Congenital Renal Abnormalities Research Articles

Correlation Diagnostic Contribution of SPECT/CT Imaging to 99mTc-DTPA Dynamic Scintigraphy in Patients with Different Renal Pathologies

Introduction: Dynamic renal scintigraphy with 99mTechnetium diethylenetriaminepentaacetic acid (99mTc-DTPA) is a widely performed imaging method to evaluate kidney function of patients with various renal pathologies. However the one-stop-shop combination with subsequent SPECT/CT imaging is a rarely discussed topic. Objective: The aim of the study was to evaluate the diagnostic benefits of SPECT/CT imaging to 99mTc-DTPA dynamic renal scintigraphy. Materials and Methods: A group of 32 patients (21 females and 11 males) who underwent dy- namic nephroscintigraphy with subsequent SPECT/CT was retrospectively studied. A dose of 185MBq (5mCi) 99mTc-DTPA was intravenously applied. A low-dose non-contrast CT protocol was used for attenuation correction and anatomical correlation. Results: Impaired relative renal function in various degrees of left kidney was detected in 18 patients (56%) and of right kidney in 14 patients (44%). SPECT/CT imaging identified the particular cause for the renal dysfunction in the analyzed subjects. The hybrid imaging demonstrated urolithiasis in 11 patients, postoperative ureteral strictures in 5 patients, diagnosed urological cancer in 4 patients and external compression of ureter in 2 patients as a possible obstructive cause. Congenital renal anomalies were the identified causes of impaired renal function in 10 patients – hypoplastic kidney in 4 patients, duplex kidney in 2 patients, multiple cortical cysts in 2 patients, aberrant vessel obstructing the pyeloureteral segment in 1 patient and horseshoe kidney in 1 patient. Conclusion: Dynamic renal scintigraphy combined with SPECT/CT is a very useful clinical tool, by providing not only functional but also anatomical information of the urinary tract, especially in the evaluation of obstructive uropathies and congenital renal abnormalities, that has the potential to change clinical management.

Clinical application of 99mTc-DTPA dynamic renal scintigraphy with consequent SPECT/CT imaging in patients with different nephrological conditions

Introduction: Dynamic renal scintigraphy with 99mTechnetium diethylenetriaminepentaacetic acid (99mTc DTPA) is a generally used imaging technique for evaluating renal function of patients with various nephro-urological conditions. Clinical application of SPECT/CT nephroscintigraphy has rarely been discussed. Objective: The aim of the study was to evaluate the added value of SPECT/CT imaging to dynamic renal scintigraphy with 99mTc DTPA. Materials and Methods: Thirty two patients (66% female and 34% male) who underwent dynamic nephroscintigraphy with subsequent SPECT/CT with mean age 55.9±18.25 years was observed. The CT scan was performed with a low dose protocol. A dose of 185MBq (5mCi) 99mTc DTPA was administered intravenously. Results: Our analysis demonstrated impaired relative renal function in various degrees of left kidney in 18 patients (56%) and of right kidney in 14 patients (44%). SPECT/CT imaging revealed the specific cause, responsible for the renal dysfunction in the cases. The hybrid imaging demonstrated urolithiasis in 11 patients, postopertative strictures of ureter in 5 patients, diagnosed urological cancer in 4 patients, external compression of ureter from ovarian cyst in 1 patient and compression of ureter due to nephroptosis in 1 patient as a possible obstructive cause. In 10 patients congenital renal anomalies were the identified causes of impaired renal function – hypoplastic kidney in 4 patients, duplex kidney in 2 patients, multiple cortical cysts in 2 patients, aberrant vessel obstructing the pyeloureteral segment in 1 patient and horseshoe kidney in 1 patient. Conclusion: The combination of conventional 99mTc DTPA dynamic renal scintigraphy with subsequent SPECT/CT could provide not only functional but also anatomical information of the urinary tract, especially in the evaluation of obstructive uropathies and congenital renal abnormalities, that can change the clinical management

Robot-assisted laparoscopic pyeloplasty is a valid option for ureteropelvic junction obstruction repair in adults with congenital renal abnormalities: a case series study

BackgroundCongenital renal anomalies are rare but may be associated with obstruction of the ureteropelvic junction. Given the rarity of simultaneous ureteropelvic junction obstruction [UPJO] and renal anomalies in the adult population, there is limited literature on approaching these patients. We report our experience with robotic assisted laparoscopic pyeloplasty for UPJO repair in this subset of patients.MethodsData on adult patients with simultaneous congenital renal abnormalities and UPJO who underwent robotic assisted laparoscopic pyeloplasty between 2008 and 2020 was reviewed. Pre-operative data, intraoperative parameters as well as post-operative data including symptom resolution and radiologic findings were recorded.ResultsTen patients, 4 female and 6 males, with a mean age of 47 years were identified as having simultaneous congenital renal abnormalities and UPJO. Anomalies identified were horseshoe kidney in four patients, duplex kidney with obstruction of one moiety in two patients, malrotated kidney in two patients, and pelvic kidney in two patients. Eight out of ten were symptomatic at presentation with flank pain being the most common symptom. Eight patients underwent robotic pyeloplasty via the dismembered technique, while two underwent robotic Y-V pyeloplasty. With a mean follow up time of 13 months, 8/9 (88%) symptomatic patients enjoyed symptom resolution. Post-op renogram was available for nine patients and showed resolution of obstruction in all patients (100%). One patient developed a urine leak which was managed successfully with drainage.ConclusionsRobotic assisted laparoscopic pyeloplasty is a safe, feasible and effective surgical approach in management of adult patients with concomitant UPJO and renal anomalies.

Examining congenital renal abnormalities in adult cadavers: an observational study

Abstract To know the percentages of incidences of various types of congenital anomalies of the renal system, an observational study was conducted at Departments of Anatomy of three medical colleges by dissection method and observation was made on dissected specimens for the presence of morphological anomalies in kidneys and the anatomical locations of kidneys and ureters. We found various types of renal anomalies like agenesis of kidney, nodular kidney and constricted (small) kidney location, ectopic kidneys bilateral polycystic kidneys. Conclusion: Various abnormalities were found in this study and so, knowledge of such anomalies of kidneys not only to anatomists but to all clinicians especially to urologists and nephrologists and radiologists.

Inappropriate Methods May Lead to Misleading Conclusions From the Meta-analysis of Observational Studies.

To the Editors: We read the article by Renko and colleagues with the outmost interest.1 This article discusses an important and relevant aspect of urinary tract infection (UTI) for pediatricians. The authors in this article systematically reviewed and synthesized data on risk factors for UTI in children. Twenty-four studies were included in the meta-analysis. Authors found that circumcision and breastfeeding reduce the risk of UTI, and poor fluid intake, infrequent voiding, and being overweight or obese increase the risk of UTI recurrence in children. More importantly, the authors also observed that obstipation and high-grade vesicoureteric reflux do not increase the risk of recurrent UTIs. Overall, this article addresses an important issue for clinicians, but we came across a few methodological concerns, which may affect the validity of the findings of this meta-analysis. It is usually recommended that the literature search be comprehensive (at least 2–3 bibliographic electronic databases) before conducting a meta-analysis. Systematic reviews of observational studies require an even more robust literature search.2,3 Authors performed a literature search only in 1 database (PubMed); hence, the likely possibility that few studies may have been missed putting this systematic review at higher risk of publication bias. In this article, authors did not report publication bias, which was not discussed under limitations. A few missed studies (Gondim et al. 2018, Shaikh et al. 2016, Conway et al. 2007, and Cho et al. 2005) that assess risk factors for UTI are missed. High-grade VUR and bladder-bowel dysfunction (BBD) are 2 widely recognized and reported risk factors for UTI. Still, the present meta-analysis failed to demonstrate these risk factors for recurrence of UTI, as the literature search was not extensive and missed studies. The authors state that they have followed the checklist of the Meta-analysis of Observational Studies in Epidemiology group (MOOSE) but failed to report the search strategy for literature search, which is an essential component per this MOOSE guidance. In the current risk-stratification model for recurrence of UTI, age, sex, VUR severity, BBD, and circumcision status are considered important factors.4 However, the authors in this meta-analysis did not assess age and sex as risk factors and failed to show the other 2 factors (BBD and VUR) as risk predictors for recurrent UTI in children. Similarly, some studies (Ellison et al. 2018, Dubrovsky et al. 2015, Braga et al. 2015, Alsaywid et al. 2010, Nayir et al. 2001) assessing the circumcision status as a risk factor for UTI are also missed.5 These findings are likely caused by a suboptimal literature search and an inappropriate study selection process. The authors mention low heterogeneity in the text, but it has not been reported for most risk factors except I2 –7.5% for circumcision status. Furthermore, the authors do not explicitly report what was considered severe congenital renal abnormalities as they used it as one of the exclusion criteria. Although they included studies with VUR grade IV and V, we feel that these limitations could have been better discussed in the limitation section because these may have had a significant impact on this meta-analysis’s finding.

National Assessment of Ear Abnormalities as Predictors for Renal Abnormalities

PURPOSE: Ear malformations and renal abnormalities are established to have some level of association. However, there is still ongoing debate regarding the utility, cost-effectiveness, and overall need to screen children with ear malformations for renal abnormalities. Herein, we utilized the 2016 Kids’ Inpatient Database (KID) to examine the association and relationship between different types of ear abnormalities commonly seen in children and renal abnormalities. METHODS: KID is a large national inpatient database that compiles admissions and data regarding diagnosis, race, procedures etc. Patients who had ICD-10 diagnoses of ear abnormalities (Q17) were identified. Those without ear abnormalities served as the control group. Patients with renal malformations (Q60 and Q63) were identified. Logistic regression was then conducted to analyze if patients with ear malformations had significantly different odds of having renal malformations. Statistical analyses were conducted in STATA using an α<0.05 for determining significance of predictors. RESULTS: 8324 patients were identified with ear abnormalities. 5321 patients were identified with congenital renal abnormalities. Those with microtia were found to be 8.83 times more likely to have congenital renal abnormalities compared to those without. Those with an accessory auricle were 3.5 times more likely to have renal abnormalities compared to those without. Those with a diagnosis of other specified ear abnormalities and other unspecified were found to be 5.92 and 7.75 times more likely to have renal abnormalities compared to those without respectively. Those patients with a congenital misplaced ear were 9.66 times more likely to have renal malformations compared to those without. Figure 1 Additionally, we examined renal agenesis as in relation to ear abnormalities. 4784 patients were identified with renal agenesis. Patients with microtia were found to be 18.17 times more likely to have renal agenesis compared to those without. Those with an accessory auricle were 4.01 times more likely to have renal agenesis compared to those without. Patients with a misplaced ear were 14.40 times more likely to have renal agenesis compared to those without. Those with other specified and unspecified ear abnormalities were found to be 8.11 and 8.48 times more likely to have renal agenesis compared to those without respectively. Patients an other mishappen ear were 4.68 times more likely to have renal agenesis compared to those without. Figure 2 CONCLUSIONS: Our results indicate a clear association between specific ear abnormalities and renal abnormalities. As such, there may be clinical value and supportive evidence for conducting screening tests such as renal ultrasounds on pediatric patients who present for ear abnormalities. To our knowledge, this is the first study to evaluate the association of specific ear abnormalities and renal abnormalities using a national database. These associations may aid clinicians in pursuing screening regimens for patients with congenital ear anomalies.

Clinical Characteristics and Patient Outcomes of Urolithiasis and Ureteral Stones in a Pediatric Population: A Prospective Analysis from a Tertiary Care Centre

Objectives: This study was aimed to highlight the clinical characteristics and patient outcome associated with urolithiasis and ureteral stones in a pediatric urological department. Methodology: A descriptive study was conducted between February 2021 and April 2022 at Gambat Medical Hospital, Khairpur, Sindh. All patients between the ages of 2 years and 17 years presented at the outpatients department and inpatients department for the management of urolithiasis were included in the study. All patients with congenital renal abnormalities were excluded from the study. Sociodemographic and clinical characteristics, treatment/management offered, outcome, and early postoperative complications were documented. All data was analyzed using SPSS version 24. Results: During the study period of one year, a total of 72 pediatric patients were diagnosed with urolithiasis. A mean age of 8.33 (5.6) years was noted with 26 (36.1%) female patients and 46 (63.8%) male patients. 20 (27.8%) patients had left renal stones. Two of these patients had right ureteral stones as well. These patients were managed with right ureterolithotomy and double J-stent placement. There were ten patients with bilateral renal stones. Two patients with a right vesicoureteric junction (VUJ) stone were treated with ureteroscopy (URS). In six (8.3%) cases, residual stones were noted. Conclusion: The majority of the pediatric population had solitary right renal stones and the most common procedure performed at our centre was pyelolithotomy followed by nephrectomy. The majority had a good postoperative outcome. Keywords: Renal Colic, Pyelolithotomy, Percutaneous Nephrolithotomy (PCNL), PUJO, J-stent placement

The Significance of Expression Pattern of Dab1 and Reelin in the Postnatal Bladder of Dab1 -/- (Yotari) Mice

Background. The aim of our study is to provide an insight into the genetic expression landscape of Dab1 and Reelin, which are important in human genitourinary tract development and could help elucidate the critical stages of the onset of bladder anomalies.Methods. Yotari, heterozygote and wild type mice were sacrificed on the 4th, 11th and 14th postnatal day. Morphological parameters were analyzed using immunohistochemistry on mice bladder samples.Results. Significant expression of Dab1 was observed in the bladder epithelium during the 4th postnatal day and in the wt -wild type, but also in the yot -/- mouse. Reelin expression was significant in bladder epithelium during the 4th postnatal day in the wild-type and mutant mouse type. A significant expression of Dab1 positive cells in lamina propria was observed on the 4th postnatal day in yot -/- and in wt. The percentage of Reelin positive cells in lamina propria was significant on the 4th postnatal day in mutated and wild-type mice.Conclusions. An increase in the expression of Dab1 and Reelin proteins in the bladder of a yotari mouse may indicate bladder damage, due to congenital renal abnormalities and caused by a mutation in the Dab1 gene.Key words: Dab1; Reelin, CAKUT, bladder development, yotari mice

Meta-analysis of the Risk Factors for Urinary Tract Infection in Children.

Context:The incidence of urinary tract infection (UTI) varies with age, but there is limited evidence on the role of other risk factors.Objective:The aim of this meta-analysis was to investigate the risk factors for UTIs in children.Data sources:PubMed from 1966 to May 2019.Study selection:All studies assessing at least 1 possible risk factor for occurrence or recurrence of UTI with a clear definition of symptomatic UTI in children were eligible. We excluded studies with UTIs related to hospital treatment or severe congenital renal abnormalities.Data extraction:After the quality assessment we extracted data on the given risk factor in children with and without UTI. The data were extracted separately for the occurrence and recurrence of UTIs.Results:We included 24 studies in the meta-analysis. Circumcision decreased the occurrence of UTIs with an odds ratio (OR) of 0.1 [95% confidence interval (CI): 0.06–0.17) and breast-feeding with an OR of 0.4 (CI: 0.19–0.86), both with low heterogeneity. Being overweight or obese increased the risk of UTI (OR: 2.23; CI: 1.37–3.63). Both poor fluid intake (OR: 6.39; CI: 3.07–13.39) and infrequent voiding (OR: 3.54; CI: 1.68–7.46) were associated with recurrent UTIs.Limitations:The design, populations and definitions varied between the studies.Conclusions:Being overweight or obese and having poor fluid intake are modifiable risk factors that increase the risk for UTIs in children. Breast-feeding and circumcision are associated with a decreased occurrence of UTIs.

Duplication of pelvicalyceal system: A rare diagnosis made reliably by use of volume rendering technique on a 384 slice CT machine

A duplex collecting system also known as duplicated collecting system in some literatures, is one of the most common congenital renal tract abnormalities to be found incidentally during evaluation of the person for some other complaints. It shows an incomplete fusion of upper and lower pole moieties which may cause a variety of complete or incomplete duplication defects of urinary collecting system [1]. While considered an anatomical variant we need to keep in mind that these duplex collecting systems may be associated with various complications like vesicoureteric reflux, obstruction or ureterocele. In this study, we are going to discuss a case of a young boy who presented with urinary difficulty, on haematological evaluation it showed renal infection . On further radiological evaluation, patient was found to have duplication collection system.

A Retrospective Analysis of Female Müllerian Duct Anomalies in Association With Congenital Renal Abnormalities.

Müllerian (paramesonephric) duct anomalies (MDAs) are associated with several coexisting congenital abnormalities, including renal abnormalities. Although congenital renal abnormalities may remain asymptomatic, the consequences should not be underestimated. In both the literature and clinical practice, it remains necessary to improve awareness of the co-occurrence of different congenital renal abnormalities in women with MDAs. To gain further insight into this co-occurrence and to estimate whether guidelines for women with MDAs should be optimized, this study was performed. A descriptive retrospective analysis. University Medical Centre Utrecht in the Netherlands. Women with MDAs diagnosed or treated between 1980 and 2015. None. The prevalence of the co-occurrence of congenital renal abnormalities in women with MDAs. Renal status was recorded in 186 of 255 women (72.9%), and the other women (27.1%) did not have a retrievable renal status. Congenital renal abnormalities were present in 90 of 186 women (48.4%) and were observed most frequently in women having a duplex uterus with obstructed hemivagina. The most common renal abnormality was unilateral renal agenesis, which was observed in 58 of 90 women (64.4%). MDAs are highly associated with different congenital renal abnormalities, and these results emphasize that women with MDAs should be routinely screened for their co-occurrence. However, these results also highlight that there remains a lack of awareness of this association. Whether all women with congenital renal abnormalities should be routinely screened for MDAs requires further investigation.

Occurrence and Outcome of Acute Kidney Injury in Very Low Birth Weight Neonates

Background: Neonatal acute kidney injury (AKI) carries significant morbidity and mortality, particularly among very low birth weight (VLBW) neonates. We aimed to evaluate the short-term outcomes and the risk factors of AKI in VLBW infants. Methods: All extramural VLBW neonates without AKI and congenital renal abnormalities were enrolled. Serum creatinine (SCr) was estimated on days 0, 4, and 10. Neonatal AKI was defined an increase in SCr by ≥0.3 mg/dL from the previous value within a period of 48 h or &gt;1.5 time from baseline within 7 days. Results: Neonatal AKI developed in 26 (13.8%) out of 189 neonates studied. Among AKI group, 5 (19.2%) had stage 1, 9 (34.4%) neonates reached stage 2, and 12 (46.1%) neonates reached stage 3 AKI. Neonates with AKI had a significantly lower gestational age and birth weight (P &lt; 0.001). Mortality in VLBW neonates with AKI was significantly higher as compared to those without AKI (crude hazard ratio 6.2; 95% confidence interval: 2.36–15.79, P &lt;0.05). Conclusions: AKI is common in extramural VLBW neonates, is inversely correlated with gestational age and birth weight, and carries poor outcome.

Hydroureteronephrosis in a male infant

A 7-month-old boy was diagnosed with his first febrile urinary tract infection (UTI) when a catheterized urine sample revealed pyuria with significant growth of Klebsiella pneumoniae in culture. In addition, no fetal pelvicalyceal dilatation was observed. His urinary stream was also reportedly normal. Renal ultrasound done post-UTI showed bilateral hydroureteronephrosis (renal pelvis, left 23 mm; right 13 mm) and a trabeculated bladder with thickened wall of 3.3 mm. Additionally, he underwent a voiding cystourethrogram (VCUG) showing left grade V vesicoureteral reflux (VUR) and proximal dilatation of the posterior urethra (Fig. 1). Cystoscopy confirmed the diagnosis of a posterior urethral valve (PUV) which was successfully fulgurated. A dimercaptosuccinic acid radioisotope renal scan performed 3 months later showed equal cortical uptake with no photopenic defects. Infants diagnosed with UTI should undergo renal sonographic evaluation even though antenatal scans had been normal, since this could be the first occurrence of congenital structural renal abnormality. Patients found to have hydroureteronephrosis on sonography should undergo further examination with VCUG for the identification of VUR or bladder and urethral abnormalities. The presence of a dilated posterior urethra, bladder neck hypertrophy, bladder trabeculation, and secondary VUR on VCUG would strongly indicate the diagnosis of PUV.1Berrocal T. López-Pereira P. Arjonilla A. Gutiérrez J. Anomalies of the distal ureter, bladder, and urethra in children: embryologic, radiologic, and pathologic features.Radiographics. 2002; 22: 1139-1164Crossref PubMed Scopus (166) Google Scholar PUV is the most common cause of congenital bladder outlet obstruction in males, affecting 0.02% of live male births. Most cases are detected antenatally or early postnatally, with poor urinary stream or recurrent UTIs. Milder cases may also occur at a later stage in childhood with voiding difficulties.2Hodges S.J. Patel B. McLorie G. Atala A. Posterior urethral valves.ScientificWorldJournal. 2009; 9: 1119-1126Crossref PubMed Scopus (63) Google Scholar,3Lopez Pereira P. Martinez Urrutia M.J. Espinosa L. Jaureguizar E. Long-term consequences of posterior urethral valves.J Pediatr Urol. 2013; 9: 590-596Abstract Full Text Full Text PDF PubMed Scopus (27) Google Scholar Importantly, PUV can lead to progressive renal disease, the pathogenesis of which includes obstructive uropathy and underlying renal dysplasia associated with abnormal nephrogenesis. Mainstay treatment of PUV is surgical relief of obstruction, usually by valve ablation; upper urinary tract diversion can also be done as a temporary measure or if urinary tract dilatation is persistent. Although surgical correction can relieve obstructive uropathy and prevent recurrent UTIs, renal dysplasia is not reversible. Since the degree of underlying renal dysplasia may lead to poor renal function, the longitudinal follow-up of all patients with PUV is important for serial monitoring of renal function, even after surgical correction.3Lopez Pereira P. Martinez Urrutia M.J. Espinosa L. Jaureguizar E. Long-term consequences of posterior urethral valves.J Pediatr Urol. 2013; 9: 590-596Abstract Full Text Full Text PDF PubMed Scopus (27) Google Scholar

Expansion of Human iPSC-Derived Ureteric Bud Organoids with Repeated Branching Potential

Ureteric bud (UB) is the embryonic kidney progenitor tissue that gives rise to the collecting duct and lower urinary tract. UB-like structures generated from human pluripotent stem cells by previously reported methods show limited developmental ability and limited branching. Here we report a method to generate UB organoids that possess epithelial polarity and tubular lumen and repeat branching morphogenesis. We also succeed in monitoring UB tip cells by utilizing the ability of tip cells to uptake very-low-density lipoprotein, cryopreserving UB progenitor cells, and expanding UB tip cells that can reconstitute the organoids and differentiate into collecting duct progenitors. Moreover, we successfully reproduce some phenotypes of multicystic dysplastic kidney (MCDK) using the UB organoids. These methods will help elucidate the developmental mechanisms of UB branching and develop a selective differentiation method for collecting duct cells, contributing to the creation of disease models for congenital renal abnormalities.

Renal cell carcinoma with ipsilateral duplex system: Case report and review of literature

Renal cell carcinoma is the most common malignant renal tumour in adults but quite rare in children. Duplex renal collecting systems are relatively common congenital renal abnormalities. However, its coexistence with renal cell carcinoma is yet to be established beyond a mere coincidence. So far, there are only 2 cases of such coexistence in literature till date. We therefore report a case of a 13-year-old girl who was referred to us with a right flank mass. Abdominal computerized tomographic scan revealed a right renal tumour necessitating a laparotomy at which a duplex collecting system was discovered in the ipsilateral kidney and a nephrouterectomy was done with a histologic finding of renal cell carcinoma. We report this rare relationship and review of literature to stimulate further study into this rare association.

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.

The gene IL6ST encodes GP130, the common signal transducer of the IL-6 cytokine family consisting of 10 cytokines. Previous studies have identified cytokine-selective IL6ST defects that preserve LIF signaling. We describe three unrelated families with at least five affected individuals who presented with lethal Stüve-Wiedemann-like syndrome characterized by skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. We identified essential loss-of-function variants in IL6ST (a homozygous nonsense variant and a homozygous intronic splice variant with exon skipping). Functional tests showed absent cellular responses to GP130-dependent cytokines including IL-6, IL-11, IL-27, oncostatin M (OSM), and leukemia inhibitory factor (LIF). Genetic reconstitution of GP130 by lentiviral transduction in patient-derived cells reversed the signaling defect. This study identifies a new genetic syndrome caused by the complete lack of signaling of a whole family of GP130-dependent cytokines in humans and highlights the importance of the LIF signaling pathway in pre- and perinatal development.

Diagnosis and Management of Genetic Derivation 22 and 11 Chromosome-Emanuel Syndrome in 10-Year Old Boy

Emanuel syndrome (ES) is a very rare chromosomal disorder, also known as Supernumerary derivative (22)t(11;22) Syndrome. Although the chromosomal disorder exhibits classic clinical features to the post-natal child, parents usually may be phenotypically normal. In most of the cases, a carrier parent has inherited the t(11;22) from one of his parents. Usually it presents a wide range of clinical presentation, such as growth delay, failure to thrive, congenital heart defects, renal abnormalities, craniofacial dysmorphism and microcephaly. ES as a complex disorder that requires a multidisciplinary team of different specialists aims for improving the quality of life and obtaining a stationary condition. Early detection and follow-up of the development of milestones in these patients leads to rapid improvement of their clinical and laboratory findings. We here present an interesting case of a 10 year old male with ES managed step by step complications in years.

Role of Multi-Detector Computed Tomography Urography in Evaluation of Renal Tract Abnormalities

Introduction: Computed Tomography Urography (CTU) is currently the modality of choice for imaging the urinary tract. Advanced CTU allows a thorough evaluation of the kidneys, ureters, urinary bladder and other structures simultaneously. Common conditions investigated by means of CTU include renal calculi, renal cancer, congenital kidney and ureter abnormalities, and certain renal inflammatory conditions. Aim: To evaluate the efficacy of Multi-Detector Computed Tomography (MDCT) urography in diagnosing renal tract abnormalities and correlation of the imaging data with clinical features. Materials and Methods: It was a descriptive study conducted between November 2017 and November 2019 involving fifty patients, aged 18-80 years with various renal abnormalities. This was a descriptive study involving both outpatients and inpatients. Triphasic examinations were carried out, including noncontrast, contrast enhanced and delayed images using a multidetector-row CT scanner. Chi-square and Fisher’s-Exact Test were used to assess the significance of study parameters. Results: Of the 50 suspected cases, 48 (96%) had renal tract abnormalities. The most common diagnosed condition was urolithiasis (36%), followed by congenital abnormalities (24%), renal masses/cysts/infections (14%), and bladder pathology/collecting system abnormalities/postoperative complications (16%). Urolithiasis was characterised by severe abdominal pain. Patients having renal masses in the urinary tract exhibited haematuria and weight loss. In case of congenital renal abnormalities, the clinical features were not significantly correlated. Conclusion: MDCT urography is a very useful tool for diagnosing renal tract abnormalities.

Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities

BackgroundCopy number variations (CNVs) involving the 17q12 region are associated with a broad range of clinical phenotypes. Deletion of the 17q12 chromosome results in structural or functional abnormalities in the kidney and urethra, type 5 diabetes (MODY5), and neurodevelopmental or neuropsychiatric disorders. Microduplication of 17q12 is rare and is associated with an increased risk of epilepsy and mental retardation. We studied the prenatal diagnosis of 17q12 microduplication and microdeletion syndrome in fetuses with congenital renal abnormalities.Case presentationWe conducted a retrospective analysis of prenatal diagnoses in our hospital from January 2016 to April 2018. Abnormal renal ultrasound findings were present in 126 fetuses and the incidence of chromosomal abnormalities was 10.32%(13/126). Conventional karyotyping detected 7 of 126 fetuses as aneuploid (5.56%). In addition, chromosome microarray analysis (CMA) detected 6 fetuses(4.76%) with copy number variations (CNVs), of which 5 were shown to have 17q12 microdeletion syndrome and 1 had 17q12 microduplication syndrome. We followed up these pregnant women. The results of the testing had a significant impact on pregnancy outcome. The phenotypes of 17q12 microdeletions and microduplications vary widely, affecting patients in different ways, such as language delays, social deficiencies, and even abortion.ConclusionsThe characteristics of 17q12 microdeletions and microduplications are so vague that the condition is often misdiagnosed or missed. This study demonstrated that karyotype analysis combined with CMA can significantly improve the diagnostic rate in prenatal diagnosis of CNVs, which can provide evidence for genetic counseling in such pregnancies.

Radiation Dose Reduction of Unenhanced CT Limited to the Kidneys for Follow-Up of Patients With Known Nephrolithiasis Without Symptoms.

OBJECTIVE. The purpose of this study is to identify the landmarks and associated radiation dose reduction for limited CT of the kidneys of patients requiring follow-up for known nephrolithiasis. MATERIALS AND METHODS. This retrospective study included all adult patients who underwent CT examination type "CT abdomen + pelvis renal stone" at our institution during 2017. Several exclusion criteria were identified, including scoliosis and congenital renal abnormalities. A total of 299 patients met the inclusion and exclusion criteria. The radiation dose and z-axis length associated with the original CT scan were recorded. The upper and lower limits of both kidneys in relation to the vertebral body endplates were recorded, to determine the z-axis length for a CT scan limited to the kidneys. A commercially available radiation dose analytics software package was used to provide estimates of whole-body-and individual organ-equivalent doses for the original CT scan and the limited range CT scan. RESULTS. The superior endplate of T11 and the inferior endplate of L5 are landmarks that will include both kidneys on almost all scans. A limited z-axis range leads to a mean scan length reduction of 50%. The whole-body mean effective dose is reduced by 41.5%, and the doses to the breast and the gonadal and bladder organs are reduced by 71.7%, 73.8%, and 81.8%, respectively. CONCLUSION. For patients without symptoms who are undergoing CT surveillance to evaluate renal calculi growth, new stone formation, or both, a limited-range scan extending from the superior endplate of T11 to the inferior endplate of L5 results in a significant reduction in radiation dose.