Loss Of Corticomedullary Differentiation Research Articles

Insights into Kidney Dysplasia in Duplex Kidneys: From Radiologic Diagnosis to Histopathologic Understanding.

Duplex kidney is a urinary tract anomaly commonly associated with a wide range of primary and secondary parenchymal structural abnormalities. We present a unique comparison of US and MRI findings with histopathology following partial resection of duplex kidneys due to nephropathy. We examined a group of 21 children with duplex kidneys who were qualified for heminephrectomy (24 kidney units (KU)). All patients underwent US and MRI prior to the surgery. The imaging results were compared with histopathologic findings. In 21/24 KU, dysplastic changes were found on histopathology, including all with obstructive nephropathy and 7/10 specimens with refluxing uropathy. The loss of corticomedullary differentiation on US and increased signal on T2-weighted images (T2WI) on MRI were the imaging findings that best correlated with fibrosis. In children with megaureter, there were no statistical differences in histopathological findings between primary megaureter, megaureter with ureterocele, and megaureter with ectopia (p > 0.05). The extent of dysplasia of the affected pole correlated negatively with residual function in MRI. Kidney dysplasia and inflammation in the kidney with obstructive nephropathy are the most important histopathologic findings of this study. US is a valuable screening tool, and MRI enables morphologic and functional assessments of the nephropathy in duplex kidneys.

Chronic kidney disease on the background of bardet–biedl syndrome: a case report and review of literature

Introduction: Bardet–Biedl syndrome (BBS) is a rare autosomal recessive multisystem disorder characterized by retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties, and hypogonadism. In this case report, the authors present the clinical course and management of a patient with BBS who developed chronic kidney disease (CKD). Case presentation: An 18-year-old male presented to the emergency department with chief complaints of fever, cough, vomiting, and decreased urine output for 7 days. Parents complained that the child had a delay in development compared to other children of the same age group. On examination, the patient had tachypnea, periorbital and pedal edema, expiratory wheeze with bilateral basal crackles, polydactyly, central obesity, microtestes, and delayed developmental milestones. Ultrasonography revealed bilateral small kidneys with increased cortical echotexture and loss of corticomedullary differentiation. Based on clinical features, the patient was diagnosed with CKD in the background of BBS. Hemodialysis was initiated after the diagnosis. Discussion: The management of CKD in the background of BBS poses unique challenges due to the complex multisystem involvement of this genetic disorder. There should be early reorganization and management of this condition so that the patient can have a better quality of life. Moreover, in developing countries like Nepal, genetic testing and diagnosis should be made easily accessible for better patient outcome. Conclusion: Multidisciplinary approach involving nephrologists, ophthalmologists, endocrinologists, and geneticists is important to optimize the treatment and long-term management of Badet Biedel patients.

Multiorgan MRI findings after hospitalisation with COVID-19 in the UK (C-MORE): a prospective, multicentre, observational cohort study

The multiorgan impact of moderate to severe coronavirus infections in the post-acute phase is still poorly understood. We aimed to evaluate the excess burden of multiorgan abnormalities after hospitalisation with COVID-19, evaluate their determinants, and explore associations with patient-related outcome measures. In a prospective, UK-wide, multicentre MRI follow-up study (C-MORE), adults (aged ≥18 years) discharged from hospital following COVID-19 who were included in Tier 2 of the Post-hospitalisation COVID-19 study (PHOSP-COVID) and contemporary controls with no evidence of previous COVID-19 (SARS-CoV-2 nucleocapsid antibody negative) underwent multiorgan MRI (lungs, heart, brain, liver, and kidneys) with quantitative and qualitative assessment of images and clinical adjudication when relevant. Individuals with end-stage renal failure or contraindications to MRI were excluded. Participants also underwent detailed recording of symptoms, and physiological and biochemical tests. The primary outcome was the excess burden of multiorgan abnormalities (two or more organs) relative to controls, with further adjustments for potential confounders. The C-MORE study is ongoing and is registered with ClinicalTrials.gov, NCT04510025. Of 2710 participants in Tier 2 of PHOSP-COVID, 531 were recruited across 13 UK-wide C-MORE sites. After exclusions, 259 C-MORE patients (mean age 57 years [SD 12]; 158 [61%] male and 101 [39%] female) who were discharged from hospital with PCR-confirmed or clinically diagnosed COVID-19 between March 1, 2020, and Nov 1, 2021, and 52 non-COVID-19 controls from the community (mean age 49 years [SD 14]; 30 [58%] male and 22 [42%] female) were included in the analysis. Patients were assessed at a median of 5·0 months (IQR 4·2-6·3) after hospital discharge. Compared with non-COVID-19 controls, patients were older, living with more obesity, and had more comorbidities. Multiorgan abnormalities on MRI were more frequent in patients than in controls (157 [61%] of 259 vs 14 [27%] of 52; p<0·0001) and independently associated with COVID-19 status (odds ratio [OR] 2·9 [95% CI 1·5-5·8]; padjusted=0·0023) after adjusting for relevant confounders. Compared with controls, patients were more likely to have MRI evidence of lung abnormalities (p=0·0001; parenchymal abnormalities), brain abnormalities (p<0·0001; more white matter hyperintensities and regional brain volume reduction), and kidney abnormalities (p=0·014; lower medullary T1 and loss of corticomedullary differentiation), whereas cardiac and liver MRI abnormalities were similar between patients and controls. Patients with multiorgan abnormalities were older (difference in mean age 7 years [95% CI 4-10]; mean age of 59·8 years [SD 11·7] with multiorgan abnormalities vs mean age of 52·8 years [11·9] without multiorgan abnormalities; p<0·0001), more likely to have three or more comorbidities (OR 2·47 [1·32-4·82]; padjusted=0·0059), and more likely to have a more severe acute infection (acute CRP >5mg/L, OR 3·55 [1·23-11·88]; padjusted=0·025) than those without multiorgan abnormalities. Presence of lung MRI abnormalities was associated with a two-fold higher risk of chest tightness, and multiorgan MRI abnormalities were associated with severe and very severe persistent physical and mental health impairment (PHOSP-COVID symptom clusters) after hospitalisation. After hospitalisation for COVID-19, people are at risk of multiorgan abnormalities in the medium term. Our findings emphasise the need for proactive multidisciplinary care pathways, with the potential for imaging to guide surveillance frequency and therapeutic stratification. UK Research and Innovation and National Institute for Health Research.

Histopathological spectrum of lesions of kidney: A morphological study

Introduction: The kidneys, as essential organs with diverse functions, are of paramount importance in the human body. Their primary role involves eliminating metabolic waste products and maintaining the balance of water, salt, calcium, phosphorus, anions, and cations to uphold the plasma's acid-base equilibrium. The objective of the current study is to investigate and understand the various morphological patterns exhibited by renal diseases, as well as assess their distribution across different age groups and genders. Material and Methods: The present study was conducted at Department of Pathology, Mamata Medical College, Khammam. A total of 32 nephrectomy specimens were studied.Results: The study shows, male to female ratio is 2.5:1 with male preponderance and among 32 nephrectomy specimens 20 were non-neoplastic and 12 were neoplastic. Neoplastic lesions constitute about 20 cases with chronic pyelonephritis being the most common cause (8 cases) leading to nephrectomy. Hydronephrosis (5 cases) majority of them showed enlarged kidneys with depressed scars and loss of corticomedullary differentiation. In the age group between 5th to 6th decades maximum number of non-neoplastic lesions was seen and least is observed in between 1st to 2nd decade. Conclusion: To conclude, these findings provide valuable insights into the histopathological patterns and distribution of kidney diseases in the studied population, contributing to our understanding of the prevalence and characteristics of these conditions.

Renal Ultrasonography Findings in Cats with Feline Infectious Peritonitis

Feline infectious peritonitis (FIP) is a fatal disease caused by a mutated feline enteric coronavirus (FECV) that causes a wide diversity of clinical findings. Antemortem diagnosis may be challenging as the non-effusive form causes pyogranulomatous inflammation in various organs including the eye, brain, omentum, liver and kidney compared to the effusive form. Since it has been discussed that the kidney is the organ most susceptible to FIP-related lesion development, this study aimed to evaluate the renal ultrasonography findings in cats with naturally developed non-effusive FIP. Clinical and renal ultrasonographic examinations of 17 cats with compatible clinical findings that would suggest the presence of non-effusive FIP were performed with the appropriate protocol. Both cats’ kidneys were evaluated for echogenicity, size (longitudinal length), shape, presence of free fluid, if any, and echogenicity of this fluid. As a result of renal ultrasonography, it was observed that the most prominent abnormal ultrasonographic findings were cortical hyperechogenicity (11 out of 17 cats), medullary rim sign (11 out of 17 cats), renomegaly (10 out of 17 cats), pyelectasis (5 out of 17 cats), loss of corticomedullary differentiation (4 out of 17 cats) and distortion of internal architecture (4 out of 17 cats). In conclusion, it was observed that morphological and parenchymal alterations occur in the renal ultrasonographic evaluation in cats with non-effusive FIP, and renal ultrasonography could provide useful clinical information in evaluating the clinical reflection of vasculitis due to FIP. Although these abnormal renal ultrasonography findings were not specific for FIP, it was concluded that the combination of the observed ultrasonographic findings and other compatible clinical findings and their evaluation together can be used to increase the index of suspicion for antemortem FIP infection.

A case of sudden death due to pulmonary embolism of bone marrow origin, masked as acute drug toxicity: A rare case in a bewildering clinical scenario

Sudden death is unexpected death within 24 hours from the onset of symptoms with or without known preexisting conditions. Respiratory pathologies are the second most common cause of such deaths. 39 years old male patient with a history of mental illness for the last 10 years and on regular treatment with antipsychotic medications, suffered sudden deterioration of higher functions and was admitted to the Medical College, and Hospital, Kolkata with a provisional diagnosis of drug toxicity. He succumbed to his condition within 24 hours of admission and the dead body was referred to Kolkata Police Morgue for a medicolegal autopsy.Shows multi-system involvement in the form of Pulmonary Oedema, consolidation, broncho-pneumonic changes and subpleural petechiae, Cardiomegaly due to biventricular hypertrophy, Cerebral Oedema, Enlarged kidneys with loss of cortico-medullary differentiation and streaky cortico-medullary haemorrhages. Stomach findings were unremarkable.1) Toxicological Examination of blood, bile, vitreous and routine viscera was negative for any poison or pharmacological agents.2)Histopathological examination with routine H&amp;E staining showed Pulmonary oedema with lymphocytic infiltration and the presence of fat and hematopoietic precursor cells in pulmonary vessels, Interstitial Oedema and focal glomerulosclerosis and Periportal inflammation in the liver.

Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is a condition usually caused by a single gene mutation and manifested by both renal and extrarenal features, eventually leading to end-stage renal disease (ESRD) by the median age of 60 years worldwide. Approximately 89% of ADPKD patients had either PKD1 or PKD2 gene mutations. The majority (85%) of the mutations are in the PKD1 gene, especially in the context of family history. Objectives: This study investigated the genetic basis and the undiscovered genes that are involved in ADPKD development among the Saudi population. Materials and Methods: In this study, 11 patients with chronic kidney disease were enrolled. The diagnosis of ADPKD was based on history and diagnostic images: CT images include enlargement of renal outlines, renal echogenicity, and presence of multiple renal cysts with dilated collecting ducts, loss of corticomedullary differentiation, and changes in GFR and serum creatinine levels. Next-generation whole-exome sequencing was conducted using the Ion Torrent PGM platform. Results: Of the 11 Saudi patients diagnosed with chronic kidney disease (CKD) and ADPKD, the most common heterozygote nonsynonymous variant in the PKD1 gene was exon15: (c.4264G &gt; A). Two missense mutations were identified with a PKD1 (c.1758A &gt; C and c.9774T &gt; G), and one patient had a PKD2 mutation (c.1445T &gt; G). Three detected variants were novel, identified at PKD1 (c.1758A &gt; C), PKD2L2 (c.1364A &gt; T), and TSC2 (deletion of a'a at the 3'UTR, R1680C) genes. Other variants in PKD1L1 (c.3813_381 4delinsTG) and PKD1L2 (c.404C &gt; T) were also detected. The median age of end-stage renal disease for ADPK patients in Saudi Arabia was 30 years. Conclusion: This study reported a common variant in the PKD1 gene in Saudi patients with typical ADPKD. We also reported (to our knowledge) for the first time two novel missense variants in PKD1 and PKD2L2 genes and one indel mutation at the 3'UTR of the TSC2 gene. This study establishes that the reported mutations in the affected genes resulted in ADPKD development in the Saudi population by a median age of 30. Nevertheless, future protein-protein interaction studies to investigate the influence of these mutations on PKD1 and PKD2 functions are required. Furthermore, large-scale population-based studies to verify these findings are recommended.

Ultrasonographic Diagnosis of Urinary System Affections in Dogs

In present investigation total 37 dogs with different urinary system affection were included. Common physical findings in urinary tract disease were stranguria / dysuria, haematuria, anuria and urinary incontinence. Ultrasonographic examinations showed hyperechoic calculi with acoustic shadow in case of kidney stone; lack of demarcation between the cortex and medulla and enlarged kidney in hydronephrosis, and non-homogenous small kidneys with loss of corticomedullary differentiation when dog was affected with chronic kidney disease. Cystic and urethral calculi ultrasonographically appeared as hyperechoic structures creating acoustic shadowing. Further renal mass, cystitis and urinary bladder mass were clearly diagnosed using ultrasonography. On the basis of present findings, we concluded that ultrasonography could be best exploited in the diagnosis of urinary system affections.

Primary Hyperoxaluria Type 1: A great masquerader

Primary hyperoxaluria (PH) Types I, II, and III is an autosomal recessive inherited disorder of defect in glyoxylate metabolism due to specific hepatic enzyme deficiencies causing renal damage due to deposition of oxalate crystals that induce renal epithelial cell injury, and inflammation resulting in reduced renal oxalate elimination leading to extra renal deposition of calcium oxalate crystals. PH is under diagnosed because of phenotypic heterogeneity masquerading as infantile nephrocalcinosis (NC) with or without renal failure or renal calculus disease in adults. We present three children with genetically proven PH1 seen over last 2 years along with a brief review of the literature. In this series all cases were female. Two girls had infantile onset of symptoms and one presented in childhood. Renal failure in all with varying sonography features including small size kidneys, multiple renal calculi, bulky kidneys with loss of corticomedullary differentiation were seen. Extrarenal affection was seen in one child. Renal replacement therapy was provided in all. Awareness of PH and early diagnosis by measurement of plasma and urinary oxalate and molecular characterization helps in prompt aggressive therapy, preventing extrarenal manifestations and plan long term management.

MO393: Kidney Echogenicity and Kidney Length as Surrogate Markers of Kidney Function With an Increased Echogenic Pattern Being the Most Predictive of Renal Dysfunction, Particularly in HIV

Abstract BACKGROUND AND AIMS Non-communicable diseases (NCDs) are rapidly emerging as a major cause of chronic kidney disease (CKD) in Africa with a reported prevalence of 10.7% locally. At current, few high-quality studies assessing the epidemiology of CKD in South Africa have been published. Alarmingly, CKD is now at epidemic proportions and is a leading cause of mortality with significant cost implications. This study aims to investigate economic means of predicting renal function in CKD by exploring the association between estimated glomerular filtration rate (eGFR) and renal morphology evaluated by ultrasound (US). METHOD This is a retrospective descriptive chart review conducted at the Department of Nephrology, Inkosi Albert Luthuli Central Hospital (IALCH), Cato Manor, Kwa-Zulu Natal from January 2016 to December 2016. A total of 455 patients who had met the Kidney Disease Improving Global Outcomes (KDIGO) definition of CKD with eGFR (MDRD) and kidney US performed were included. Demographic, clinical, laboratory and kidney morphological data [kidney length (KL), increased echogenicity (IE) and loss of corticomedullary differentiation (LCMD)] on US were collected and analyzed with SPSS software (v. 27). Associations between eGFR, parameters on US and CKD risk factors were determined using logistic regression analysis. RESULTS Black Africans (75.2%; n = 342) and females (56.9%; n = 259) predominated the sample. Whilst, Indians, Whites and Coloreds comprised of 20.4%, 2.42% and 1.98% of the study respectively. The median age was 45.8 ± 14.3 years. Hypertension (34.9%), diabetes (26.8%), HIV (27.5%) and glomerulonephritis 9.89% were the four most frequently reported risk factors, of which Black Africans comprised more than 50% of cases (P &amp;lt; 0.001). A significant proportion of patients 65.7% (n = 307) had end-stage renal disease with a median eGFR of 14.4 ± 12.8mL/min/1.73m2 (P &amp;lt; 0.001). The median right and left KL were short at 8.49 ± 2.16 cm and 8.60 ± 2.20 cm respectively. Black Africans were also found to have significantly shorter KLs and lower eGFRs (P &amp;lt; 0.001). The dual effect of IE and LCMD predisposed to significantly shorter KLs and lower eGFRs than in the presence of one or no abnormality on US (P &amp;lt; 0.001). IE [−9.29 odds ratio (OR); 95% confidence interval (CI) (−13.8 to −4.77); P &amp;lt; 0.001] and KL [right: 5.02 OR; 95% CI (3.44–6.60); P = 0.04; left: 5.11 OR; 95% CI (3.56–6.66); P = 0.04] were found to be significant predictors of eGFR. HIV was the only risk factor found to be negatively associated with all determined measures of renal function, as well as the sole predictor of IE [2.31 OR; 95% CI (0.17–3.15); P = 0.02]. CONCLUSION The CKD epidemic is driven by the complex interplay between communicable (HIV) and NCDs (HPT/DM) and has emerged as important public health and economic threat in Southern Africa. Africans are most vulnerable presenting with an advanced and accelerated disease course. GFR determination and US are inexpensive means of determining renal function, particularly in resource-limited settings. IE and KL are surrogate markers of kidney function with an increased echogenic pattern being most predictive of kidney dysfunction in CKD, particularly in HIV.

MO042: Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease

Abstract BACKGROUND Massively parallel sequencing (MPS) has propelled precision medicine into the next generation. With genetic data more accessible than ever, the focus has now shifted from obtaining data to converting the acquired data into applicable clinical information. A major obstacle to such task arises when there is limited knowledge of the phenotypic spectrum of a genetic entity, limiting the application of virtual panels and prioritization of genetic candidates. METHOD We performed in-depth clinical, imaging and histological phenotyping of an index family presenting with extremely early-onset hypertension and kidney disease. We then performed genetic investigations on the proband, starting with a limited MPS panel testing for monogenic causes of arterial hypertension. This was followed by Genomics England 100 000 Genomes Project whole genome sequencing (WGS) and application of a 26-gene virtual panel for ‘extreme early-onset hypertension’. Subsequently, we reviewed the 100 000 Genomes Project rare disease data for patients recruited with extreme early-onset hypertension. We also conducted a literature review to identify any existing studies correlating TTC21B mutations and systemic hypertension. RESULTS The proband (Table 1, II.1) was a 3.5-year-old girl presenting with severe hypertension, proteinuria, kidney failure, left ventricular hypertrophy, liver function test abnormalities and growth retardation. A kidney ultrasound scan showed bilateral small kidneys with loss of corticomedullary differentiation. Kidney biopsy showed sclerosed glomeruli, severe tubular atrophy with tubulointerstitial fibrosis in addition to arteriolar changes in secondary to systemic hypertension. Her sibling (Table 1, II.2) equally presented with early-onset hypertension and progressive kidney disease. MPS panel testing and WGS virtual panel for early-onset hypertension both failed to identify pathogenic variants. Manual curation of WGS data then revealed a heterozygous nonsense variant p.(Gln834Ter) in conjunction with a heterozygous missense variant p.(Pro209Leu) in TTC21B, both of which were predicted to be pathogenic according to ACMG criteria. This was missed as the gene did not form part of the hypertension virtual panel. TTC21B mutations have been previously associated with typical ciliopathies such as nephronophthisis (NPHP) and Jeune asphyxiating thoracic dystrophy, but only recently implicated in glomerular kidney disease such as focal segmental glomerulosclerosis (FSGS). Literature review suggests roles for TTC21B (IFT139) both in the primary cilium and in podocyte cytoskeleton, revealing a striking association between TTC21B missense variants and early-onset hypertension. Searching the 100 000 Genomes Project revealed one additional case of arterial hypertension and mild proteinuria explained by biallelic mutations in TTC21B. CONCLUSION In conclusion, biallelic mutations in TTC21B produce a spectrum of phenotypes from typical ciliopathies to kidney-limited phenotypes. The latter are mostly encountered in patients carrying two missense, often hypomorphic, variants, and are characterized by lesions of the glomerular as well as the tubulointerstitial compartment, resembling both FSGS and NPHP. Increased clinical recognition of this mixed glomerular and tubulointerstitial disease with often mild or absent features of a typical ciliopathy as well as inclusion of TTC21B on gene panels for early-onset arterial hypertension may shorten the diagnostic odyssey for patients affected by this rare tubuloglomerular kidney disease.

Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features.

Background. Joubert syndrome (JS) is a rare autosomal recessive ciliopathy with an estimated prevalence of 1 in 100,000. JS is characterized by hyperpnoea, hypotonia, ataxia, developmental delay and various neuropathological abnormalities in the brain including cerebellar hypoplasia and cerebellar vermis aplasia. JS can also have variable multi-organ involvement, including the retina, kidneys, liver, and musculoskeletal system. Methods and Results. Here we report a clinical description of two-year-old girl presenting with breathing difficulties, hyperechoic kidneys with loss of corticomedullary differentiation. Brain magnetic resonance imaging revealed the typical molar tooth sign consistent with a clinical diagnosis of JS and retinal examination showed severe retinal dystrophy leading to blindness. Molecular genetic analysis using whole exome sequencing and Sanger sequence confirmation demonstrated a homozygous mutation (c.5493delA, p.(A1832fs*19) in CEP290 which segregated from either parent and was consistent with the multisystem ciliopathy phenotype. This precise variant has been described previously in 2 families from the Kosovar-Albanian region suggesting this allele is a recurrent mutation in this population. Conclusions. Mutations in CEP290 lead to multisystem ciliopathy syndromes and molecular genetic diagnostics of such cases allows precise diagnosis, screening of at risk relatives and appropriate management.

Relationship between renal ultrasonographic, CD4 cell count and proteinuria findings in HIV infected adult patients in Jos, Nigeria

This study intends to describe renal sonographic outcomes in matured patients with HIV/AIDS in Plateau State capital Jos and relate the outcome with proteinuria and the subjects’ CD4 cell count. The 504 subjects were evaluated for renal ultrasound scan, CD4 cell counts and dipstick proteinuria (using Combi 10 Urinalysis strips) were obtained, and their findings recorded. Twenty-four (4.8%) of the patients had abnormal renal sonographic findings while 480 (95.2%) had normal findings. Sixteen (3.2%) out of the 24 patients with abnormal renal ultrasound had enlarged kidneys, 24 (4.8%) patients had increased renal echogenicity while 19 (3.8%) had loss of corticomedullary differentiation. One (0.2%) patient was observed to have a globular kidney. Significant proteinuria was observed in all the 24 (4.8%) patients with abnormal renal sonographic findings to suggest HIV-associated nephropathy (HIVAN) while the remaining 480 (95.2%) patients had no significant proteinuria. Hence, the prevalence of HIVAN in this study was 4.8%. Kidney size, renal echogenicity and corticomedullary differentiation correlated significantly with proteinuria count with P-values of 0.05, r = 0.084) and between corticomedullary differentiation and CD4 cell amount (p >0.05, r = 0.049). Sonographically based determination of renal size and echogenicity/echopattern combined with proteinuria are good determinants of renal parenchymal disease and may have diagnostic usefulness as a non-invasive procedure in the identification of HIVAN in HIV-positive subjects with renal disease. Key words: HIV, AIDS, HIV-associated nephropathy, kidneys, ultrasonography, proteinuria.

Multiparametric ultrasound findings in acute kidney failure due to rare renal cortical necrosis

Renal cortical necrosis (RCN) is a rare cause of acute kidney failure and is usually diagnosed on the basis of characteristic enhancement patterns on cross-sectional imaging. Contrast-enhanced ultrasound (CEUS) offers benefits in patients with kidney failure in the clinical setting including the use of a nonnephrotoxic intravascular contrast agent and the fact that it can be performed at the bedside in critical cases. Therefore, the aim of this study is to investigate whether CEUS can reliably identify typical imaging features of RCN. We retrospectively analyzed 12 patients with RCN examined in our department and confirmation of the diagnosis by either histopathology, other contrast-enhanced cross-sectional imaging tests, and/or CEUS follow-up. Assessed parameters in conventional US were reduced echogenicity, loss of corticomedullary differentiation, length and width of kidney, hypoechoic rim, resistance index and in CEUS delayed wash-in of contrast agent (> 20 s), reverse rim sign, maximum nonenhancing rim and additional renal infarction. Furthermore, imaging features in RCN were compared with the findings in renal vein thrombosis (RVT), among them echogenicity, corticomedullar differentiation, hypoechoic rim, RI value, delayed cortical enhancement, total loss of cortical perfusion and enhancement of renal medulla. All 12 patients showed the reverse rim sign, while a hypoechogenic subcapsular rim was only visible in four patients on B-mode ultrasound. A resistance index (RI) was available in 10 cases and was always less than 1. RI was a strong differentiator in separating RVT from RCN (RI > 1 or not measurable due to hypoperfusion as differentiator, p = 0.001). CEUS showed total loss of medullary enhancement in all cases of RVT. With its higher temporal resolution, CEUS allows dynamic assessment of renal macro- and microcirculation and identification of the typical imaging findings of RCN with use of a nonnephrotoxic contrast agent.

CRANIOFACIAL FIBROUS DYSPLASIA: A CASE REPORT

Craniofacial fibrous dysplasia (CFD) is a benign bone development anomaly characterized by involvement of the skull and facial bones. This disease can affect 1 bone or multiple bones resulting in deformity, fractures, and pain. An 18-year-old male with facial asymmetry presented with an extensive and not well-demarcated lesion involving the left craniofacial side. Tomographic examination showed an expansive bone lesion with loss of corticomedullary differentiation affecting the left maxilla, maxillary sinus, ethmoid, sphenoid infundibulum, and nasal and frontal bones. After biopsy, the microscopic examination revealed irregular trabeculae of the lamellar bone immersed in a moderately cellularized and vascularized dense connective tissue. Curvilinear bone trabeculae arranged in a pattern of Chinese letter form was noted. The diagnosis of CFD was made. The treatment has consisted of multiple surgeries to restore the facial contour and asymmetry. The patient remains in follow-up.

B-mode and Doppler ultrasound of chronic kidney disease in dogs and cats.

Ultrasound is the imaging test of choice for renal evaluation, because it provides information about the position, size, shape, internal architecture and hemodynamics of the kidneys without harming the patient. In chronic kidney disease, the main findings observed in B-mode ultrasound images are increased cortical echogenicity, loss of corticomedullary differentiation, reduced renal volume and irregular renal contour, and when these changes are associated, they are indicative of end-stage renal disease. However, the cause of kidney disease cannot be determined by ultrasonography, but must be confirmed by means of biopsy, although the presence of ultrasonographic changes indicative of the end-stage of the disease may contraindicate this procedure. The Doppler ultrasound test complements the ultrasonic B-mode examination and enables the assessment of renal perfusion based on a calculation of the hemodynamic indices, which are increased in cases of chronic kidney lesions, with higher values ​​in the most severe cases. Thus, ultrasound examinations are not only useful in diagnostics but also play an important role in defining the prognosis of patients with chronic kidney disease.

Posterior urethral valves: Risk factors for progression to renal failure

Posterior urethral valves (PUVs) are the most common etiology for congenital urethral obstruction and congenital bilateral renal obstruction. PUVs produce a spectrum of urologic and renal sequelae. Our aims were to assess outcomes of PUV patients, to determine whether vesicoureteral reflux (VUR) is a risk factor for progression to renal failure, and to identify other risk factors for poor outcomes. We conducted a retrospective analysis of PUV patients from 2006 to 2014. Data collected included demographics, initial renal ultrasound (RUS) findings, creatinine at presentation and nadir, pre- and postoperative VUR status, presence or absence of recurrent urinary tract infections (UTIs), and surgical intervention(s). Univariate and multivariate analyses were used to determine risk factors for renal failure. Of 104 patients, 42.3% (44/104) were diagnosed prenatally, 31.8% (14/44) of whom underwent prenatal intervention. Postnatally, 90.4% (94/104) initially underwent transurethral resection of PUVs (TUR-PUVs). Vesicostomy was the next most common index surgery (4.8%). Forty-two percent (44/104) required >1 surgery. The predominant second surgery was repeat TUR-PUV in 16 patients. At last follow-up (mean 28.8 months after initial surgery), 20.2% had chronic kidney disease (CKD) of at least stage IIIA, and 8.6% had progressed to end-stage renal disease (ESRD). Antenatal diagnosis, prematurity, abnormal renal cortex, and loss of corticomedullary differentiation (CMD) on initial RUS were associated with CKD and ESRD on univariate analysis, as were elevated creatinine on presentation and at nadir. Presence of pre- or postoperative VUR and recurrent UTIs were associated with the need for multiple surgeries, but not with poor renal outcomes. On multivariate analysis, nadir creatinine was the only independent predictor of final renal function. Our finding that creatinine is the only independent risk factor for poor renal outcomes in PUV patients is consistent with the literature. The effect of VUR has been controversial, and our finding that VUR is associated with need for multiple surgeries but not with CKD or ESRD is novel. Limitations include biases inherent to retrospective studies and relatively small sample size. The majority of patients with PUVs (56.7%) required one surgery and maintained renal function with CKD II or better (79.8%) up to 2 years after initial surgery. While multiple factors were associated with poor renal outcomes, nadir creatinine was the only independent predictor. VUR and recurrent UTIs were not associated with poor renal outcomes. Longer follow-up is necessary to identify risk factors for delayed progression of renal disease.

Neonatal renal venous and arterial thrombosis

Renal vein thrombosis (RVT) is one of the more common forms of neonatal thrombosis accounting for 15-20% of systemic thromboembolism[1,2]. A median age at presentation of 2-3 days have been reported [1,3], with unilateral and bilateral involvement of renal vein in 89-72% and 28-11% of cases, respectively[4,5]. The clinical presentation of RVT consists of increased kidney size, macroor microhematuria, reduced urine output with some degree of renal failure and thrombocytopenia. RVT in neonates is a multifactorial disease and it was associated with coagulopathy, maternal diabetes, birth asphyxia, sepsis, placement of central venous lines (CVL) and hereditary thrombophilic factors[5,6]. In specific, FV 1691G>A mutation and elevated Lp(a) concentrations are independent risk factors for the development of RVT in neonates. In non-CVL-related RVT, thrombus formation occurs in the small vessels of the kidney and may extend into the renal vein and inferior vena cava. In the neonates with CVL-related RVT, the thrombus most likely formed first in the vessel adjacent to the CVL and then extended into the kidney[4]. Renal ultrasonography shows unior bilateral kidney enlargement with loss of cortico-medullary differentiation and reduced or absent flow in renal vein[7]. Long-term functional complications include renal insufficiency, renal tubular dysfunction and hypertension in up to 30% of patients[1,8]. Controlled data on appropriate clinical management of neonatal RVT are lacking and recommendations of its treatment are based on low quality evidence. Current guidelines suggest for unilateral RVT in the absence of renal impairment or extension into the inferior vena cava, either 1) supportive care with radiologic monitoring for extension of thrombosis or 2) anticoagulation with unfractionated heparin (UFH)/ low-molecolar-weight heparin (LMWH) in therapeutic doses rather than no therapy[9]. For unilateral RVT that extends into the inferior vena cava, anticoagulation with UFH/LMWH for a total duration of between 6 weeks and 3 months is suggested[9]. For bilateral RVT with evidence of renal impairment, anticoagulation with UFH/LMWH or initial thrombolytic therapy with tissue plasminogen activator followed by anticoagulation with UFH/LMWH is suggested[9]. Renal artery thrombosis (RAT) in the neonate is far less common than RVT, and there is little information about its incidence. It is associated with umbilical catheters, patent ductus arteriosus and hereditary thrombophilia [10,11]. The clinical presentation is rather silent and renal ultrasound findings can be minimal unless Doppler imaging is used. The outcome of the affected kidneys is poor with common global atrophy. For neonates with a peripheral arterial catheter-related thrombosis, immediate removal of the catheter and UFH anticoagulation with or without thrombolysis or surgical thrombectomy and microvascular repair with subsequent heparin therapy are suggested[9].

Large Bladder Clot—An Unusual Presentation of Neonatal Bilateral Renal Vein Thrombosis—Case Report and Review of Literature

A 1-day-old boy born at 37 weeks gestation presented with hematuria, thrombocytopenia, and palpable irregular right flank mass. Renal ultrasound demonstrated large clot within the bladder, bilateral kidney masses with loss of corticomedullary differentiation, and reversal of diastolic flow. The patient was diagnosed with bilateral renal vein thrombosis and was managed conservatively. There was complete resolution of the bladder clot with restoration of corticomedullary differentiation bilaterally. We report the first case of renal vein thrombosis associated with a large bladder clot in a neonate.

PO-0786 Prenatal Diagnosis Of Glomerulocystic Kidney Disease Due To Mutation Hnf 1b. Importance Of Genetic Test

Background HNF 1B is a key factor for the normal development of the kidney and pancreas transcription. Mutations affecting the gene encoding this factor are related to different phenotypes of renal disease among glomerulocystic kidney disease (GCKD) is included. GCKD is entity characterised by glomerular cysts with dilatation of the Bowman space and adjacent tubules. Methods Case report: Male patient, 7 years old, with renal cystic disease prenatal diagnosis of bilateral cortical cysts distribution. Unrelated parents, mother with IgA nephropathy, no alterations of hepatic metabolism or glucose. At birth, had very enlarged kidneys with increased echogenicity and loss of cortico medullary differentiation without other extrarenal findings. The disease has slowly evolved, with increased number of cysts, always cortical distribution. No impairment of renal function, normal BP. Genetic study was performed. Results Heterozygous mutation HNF 1B was identified (c. 1-?_1674+del), consisting of the deletion in one of its complete gene alleles. Neither parent is a carrier of the mutation. Conclusions The demonstration of de novo gene mutation in this patient confirms the aetiology of cystic disease. The test is very useful because it allows early diagnosis, non-invasive, allows estimating a prognosis and genetic counselling to the family.