Bilateral Small Kidneys Research Articles

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.

Causes and outcome of pregnancy related acute kidney injury.

To determine frequencies of causes and renal outcomes of pregnancy related acute kidney injury. This descriptive case series study was conducted in Nephrology unit of a tertiary care hospital of Peshawar, from 1st August 2021 to 31st July 2022.A total of 100 patients with acute kidney injury secondary to obstetric conditions were enrolled via non-probability consecutive sampling technique. While patients with pre-existing renal disease, those with renal stones, or having bilateral small kidneys on ultrasound were excluded from the study. Patients were followed till 12 weeks postpartum period. Underlying obstetrical causes and outcome at 12 weeks postnatal period were determined. The mean age of sample of 100 cases was 29.29 ± 6.45. Mean serum creatinine at presentation was 6.5± 3.13. Majority of patient, 89% were multigravidas. Seventy eight percent patients required hemodialysis. Primary postpartum hemorrhage remained the commonest underlying cause of pregnancy related acute kidney injury in this study. The frequency of persistent renal failure in Pr-AKI (pregnancy related acute kidney injury) in this study was 14%. In about 66% of cases complete recovery occurred. All the underlying obstetrical causes, when adjusted for age, gravidity, place and mode of delivery, had no association with persistent renal failure. Primary postpartum hemorrhage is the predominant cause of pregnancy related acute kidney injury. By the end of 12 weeks postpartum, two third patients recover completely from pregnancy related acute renal injury.

Sofosbuvir and Velpatasvir Regimen Outcome for Chronic Hepatitis C Patients With End-Stage Renal Disease Undergoing Hemodialysis.

Background Patients on hemodialysis (HD) are most likely to contract hepatitis C (HCV) infection, which is associated with significant morbidity and disease progression. Direct-acting antivirals (DAAs) are safe and tolerable in chronic kidney disease (CKD) with a 90-100% cure rate, and limited data exist regarding their efficacy in end-stage renal disease (ESRD), particularly for HDpatients in South Asia. The study aimed to assess the outcome of a 12-week sofosbuvir (SOF) and velpatasvir (VEL) treatment regimen on ESRD patients with chronic HCV infection undergoing HDin the Pakistani Asian population. Methodology This prospective cohort study was conducted between January 2022 and January2023 at the outpatient nephrology and gastroenterology clinic of Sheikh Zayed Medical College and Hospital, Rahim Yar Khan, Pakistan. This study included a total of 220 ESRD patients fulfilling the inclusion criteria, aged 20-55 years, who had been undergoing weekly HD sessions for at least two years, with acquired HCV infection. Data on demographic and clinical characteristics were collected through patient interviews. Laboratory and dialysis profiling was executed to assess ESRD and discover the underlying cause by ultrasound abdomen, blood pressure measurement by sphygmomanometer, random blood sugarfor diabetes, and taking note of the duration and frequency of dialysis. HCV RNA PCR was done at selected intervals to evaluate the virological response to treatment. Sustained virological response (SVR), liver cirrhosis status, and number of weekly HD sessions were compared at one year of SOF/VEL regimen. Results The mean age of patients with ESRD was 41.8 with a standard deviation (SD) of 9.3 years, and HCV diagnosis was 1.3 years with SD of 0.4 years; 52.7% (n=116) were males, 47.3% (n=104) were females, 75% (n=165) were urban dwellers, and 93.6% (n=206) were married.CKD that requires dialysis was caused mainly by hypertension (78, 35%), diabetes mellitus type 2 (52, 24%), bilateral small kidney disease (40, 18%), and others (34, 16%). One hundred and six (48.2%) received dialysis thrice weekly, 83 (37.7%) twice, and 31 (14.1%) once weekly. The study monitored the rapid virological response (RVR) at four weeks of SOF/VEL regimen in 89.5% of ESRD patients, observed end-of-treatment response (ETR) at 12 weeks in 93.2%, and noted 91.4% SVR response at one year. Only four (1.8%) relapses were observed in the study, which was statistically insignificant. The status of liver cirrhosis showed a 50% improvement, decreasing from 40% to 20%. The frequency of weekly HD sessions decreased from thrice to twice-thrice a week. Conclusion The prevalence of contracting HCV is high among CKD and dialysis ESRD patients. All-oral DAA therapy has revolutionized HCV treatment with co-morbidities. Renal functions improved after the SOF/VEL regimen for chronic HCV infection in ESRD patients undergoing HD, with the number of weekly dialysis sessions reduced and SVR reaching 91.4%. Thus, a single-tablet, pan-genotypic DAA regimen of SOF/VEL for 12 weeks is safe, effective, and tolerable regardless of the underlying etiology of ESRD, complications of cirrhosis, HCV genotype, or previous treatment exposure. The successful treatment of HCV and achieving SVR lowers the risk of ESRD complications, improves extra-hepatic manifestations, and greatly enhances survival. Further studies are warranted after the availability of other DAAs to confirm findings with no limitations.

POS-054 UTILITY OF PLASMA EXCHANGE AND RITUXIMAB IN PERIOPERATIVE PERIOD AMONG PATIENTS OF COMPLEMENT-ASSOCIATED RENAL DYSFUNCTION UNDERGOING TRANSPLANTATION: REPORT OF THREE RARE CASES

POS-054 UTILITY OF PLASMA EXCHANGE AND RITUXIMAB IN PERIOPERATIVE PERIOD AMONG PATIENTS OF COMPLEMENT-ASSOCIATED RENAL DYSFUNCTION UNDERGOING TRANSPLANTATION: REPORT OF THREE RARE CASES

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.

Wolf-Hirschhorn Syndrome with Hyperparathyroidism: A Case Report and a Narrative Review of the Literature.

Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion condition. The WHS core phenotype includes developmental delays, intellectual disabilities, seizures, and distinctive facial features. Various other comorbidities have also been reported, such as hearing loss, heart defects, as well as eye problems and kidney problems. In this report, we present a case of WHS accompanied by hyperparathyroidism and hypercalcemia, which has not been previously reported. A girl was born at 37 weeks of gestation by vaginal delivery. She was small for the gestational age (2,045 g) and admitted to neonatal intensive care unit. She had typical WHS facial features and was found to have bilateral small kidneys associated with transient metabolic acidosis and renal insufficiency. She had right-sided sensorineural hearing loss, a small atrial septal defect, and colpocephaly and hypoplasia of corpus callosum. She had a single seizure which was well controlled with an oral antiepileptic medication. Cytogenetic studies demonstrated a large terminal chromosome 4p deletion (21.4 Mb) and 4p duplication (2.1 Mb) adjacent to the deletion. A unique finding in this patient is her consistently elevated levels of parathyroid hormone and serum calcium, suggesting hyperparathyroidism. We present this rare case along with a review of the literature and hope to draw an attention to a potential relationship between WHS and hyperparathyroidism.

MO048PATHOGENIC VARIANTS IN CHLORIDE VOLTAGE-GATED CHANNEL 5 (CLCN5), ASSOCIATED WITH DENT DISEASE TYPE 1, SHOULD BE CONSIDERED IN END-STAGE KIDNEY DISEASE OF UNKNOWN AETIOLOGY

Abstract Background and Aims Hemizygous variants in chloride voltage-gated channel 5 (CLCN5) on chromosome Xp11.22 cause Dent disease type 1, characterised by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure. We describe a truncating pathogenic variant in two brothers presenting with end-stage kidney disease (ESKD) and no evidence of nephrolithiasis or nephrocalcinosis. Method Two white British brothers presented to a different regional centre over 20 years ago with ESKD of unknown aetiology. The UK 100,000 Genomes Project provided a unique opportunity to make a molecular diagnosis using whole-genome sequencing linked to clinical records. Results The older brother presented with ESKD aged 23 with bilateral small kidneys and no evidence of nephrolithiasis or nephrocalcinosis on ultrasound. He had various musculoskeletal pains, 'cutaneous ectopic calcification' and secondary hyperparathyroidism, all of which improved post parathyroidectomy. Investigation of his 17-year-old brother for consideration of kidney transplant donation revealed progressive chronic kidney disease (CKD), microscopic haematuria, proteinuria (3g/24hours) and hypokalaemia. There was no nephrocalcinosis or renal calculi on ultrasound or cystoscopy. Renal biopsy showed tubulointerstitial changes with patchy fibrosis and marked chronic inflammatory cell infiltrates. He had a history of enuresis, polydipsia, delayed bone age and general developmental delay. ESKD by the age of 22 was complicated by hypertension and hyperparathyroidism requiring parathyroidectomy. Right knee pain with 'unusual osteochondral abnormality' on MRI resulted in a supracondylar femoral osteotomy. Early serum and urine biochemistry results were not available. A hemizygous nonsense variant p.Arg417Ter in CLCN5 was identified by whole-genome sequencing via the 100,000 Genomes Project. Sanger sequencing at the Wessex Regional Genetics Laboratory confirmed this. This variant was predicted to be protein-truncating, was absent in the genome aggregation database (gnomAD) and equivalent to a variant associated with Dent disease in other patients therefore classified as a class 5 pathogenic variant according to ACMG guidelines. Three male children with Dent disease have previously been reported with the pathogenic variant p.Arg347Ter. A seven and a twelve year old from two different families in Japan had microscopic haematuria, proteinuria, elevated β2-microglobulin and normal renal function. The twelve-year-old had mild hypercalciuria, but neither had a history of nephrolithiasis or nephrocalcinosis. A four-year-old Turkish boy manifested hypophosphataemia, nephrolithiasis and nephrocalcinosis. Unusually for Dent disease, he also had hypokalaemic hypochloraemic metabolic alkalosis and hyper-reninaemic hyperaldosteronism more characteristic of Bartter syndrome, but with elevated β2-microglobulin more typical of Dent disease. None of these cases had CKD but were all reported at a very young age. Conclusion Approximately 15% of patients with ESKD in Europe have an unknown aetiology. Dent disease has a variable phenotype and screening of patients for low molecular weight proteinuria such as β2-microglobulin is not routinely performed. Dent disease type 1 should be considered in patients presenting with unexplained renal failure even without typical clinical features.

The Impact of Predialysis Patient Education Counseling on Relative Frequencies of Renal Replacement Modalities.

Background and objectiveThe predialysis education program (PDEP) is an integral part of the management of patients with end-stage renal disease (ESRD). Hence, the aim of this study was to assess the distribution of renal replacement therapy (RRT) among patients with ESRD who received PDEP counseling at a single tertiary care center in Khamis Mushait, Kingdom of Saudi Arabia (KSA).MethodologyIn this study, we included 177 patients with ESRD who received a series of structured PDEP counseling sessions between March 2018 and February 2019 at the Armed Forces Hospital, Southern Region, Khamis Mushait, KSA. All patients were offered available RRT options, which included hemodialysis (HD), continuous ambulatory peritoneal dialysis (CAPD), or renal transplantation. Patients' opted RRT modality was recorded and managed as per the international guidelines and institutional protocols.ResultsOut of 177 patients, 58.8% (104) were males, with a mean age of 59 ± 13.7 years. The most common comorbid condition as the primary diagnosis was diabetic nephropathy in 49.7% (88), followed by hypertension in 30.5% (54), bilateral small kidney in 15.3% (27), and renal stone in 5.1% (nine) of the patients. Among the available RRTs, 51.4% (91) chose HD, 5.1% (nine) decided on CAPD, four patients (2.3%) opted for renal transplantation, while the remaining 41.2% (73) had yet to choose one, out of which 83.6% (61/73) had stage-IV chronic kidney disease (CKD) while the remaining 16.4% (12/73) had stage-V CKD.ConclusionsIn conclusion, a series of structured PDEP sessions for the patients progressing to ESRD can facilitate their selection of RRT. In a resource-limited setting, such as ours, where the number of patients who seek treatment for ESRD is rising, PDEP can provide patients with adequate information and knowledge to equip them with the ability regarding the selection of a self-care RRT modality.

Use of sildenafil in an infant with persistent pulmonary hypertension secondary to lung and renal hypoplasia \u2013 a case report

BackgroundPremature preterm rupture of membranes (PPROM) is reported to be associated with high rates of neonatal mortality and morbidity. Sildenafil has been used in infants with persistent pulmonary hypertension of newborn (PPHN) due to congenital diaphragmatic hernia (CDH) and bronchopulmonary dysplasia (BPD). Recently, Sildenafil has been evaluated as an alternative or adjunctive pulmonary vasodilator. This case report illustrates the use of early sildenafil for PPHN and right ventricular dysfunction in an unusual setting of lung and renal hypoplasia.Case presentationA male infant was born at 37 weeks with a birth weight of 2840 g. Rupture of membranes developed at approximately 24 weeks of gestational age (GA). Bilateral small kidneys (< 2 standard deviations below average) were detected on ultrasound (US) examination at 30 weeks of gestation. The baby developed pneumothorax and pulmonary hypertensive crisis towards the end of the first day. An echocardiogram showed a dilated right ventricle, moderate right ventricular systolic dysfunction, hypoplastic pulmonary arteries and a large patent ductus arteriosus with bidirectional flow. The patient was sedated, paralyzed, and inhaled nitric oxide was administered to decrease the pulmonary resistance. In anticipation of persistent pulmonary hypertension due to the hypoplastic lungs and small calibre of pulmonary arteries, sildenafil was started on day of life (DOL) 5 at a dosage of 0.25 mg/kg/dose Q8H and gradually increased to 2 mg/kg/dose Q8H on DOL 9. The patient was finally extubated on DOL 7 and weaned off of non-invasive respiratory support on DOL 26. Sildenafil was gradually weaned beginning on DOL 21 and discontinued on DOL 48. Repeat echocardiogram assessment at 3 months showed complete resolution of PHT and right ventricular dilatation.ConclusionsWe describe the early use of sildenafil in treating pulmonary hypertension associated with lung and renal hypoplasia in a non-CDH patient. Following this treatment the patient made a full recovery from right ventricular dysfunction.

Renal Dysplasia in a Maltese dog

Background: Renal dysplasia (RD) is a common cause of renal failure in young dogs. It is defined as a disorganization in renal parenchymal development, with abnormal differentiation. In all domestic animal species, RD may be hereditary or acquired. The affected animals show clinical signs of early chronic kidney disease, usually between 3 months to 3 years of age. The alterations include persistent metanephric ducts surrounded by primitive mesenchyme, glomeruli and fetal tubules, and abnormal interstitial fibrous tissue. We aimed to report the case of a 1-year-old canine with renal dysplasia.Case: A 1-year-old male Maltese dog experiencing polyuria, polydipsia, recurrent episodic vomiting, bloody diarrhea, weight loss, apathy, and anorexia was referred to a private clinic in the municipality of Itabuna-Bahia. Physical examination revealed hypochromic mucosa, dehydration estimated at 8%, rectal temperature of 37.5º C, halitosis, and a body score of 3 out of 9. Laboratory abnormalities included hematocrit of 18%, with hypochromic normocytic aregenerative anemia, azotemia (urea - 530 mg/dL, creatinine - 10.5 mg/dL), hyperglobulinemia (4.7 g/dL), low urinary density (1005), proteinuria (300 mg/dL), and urinary pH - 7.0. Ultrasonography revealed bilateral small kidneys with loss of cortico-medullary definition, cystic formations of different sizes on the renal surface, and hyperechoic areas in the parenchyma; these alterations were suggestive of bilateral chronic nephropathy. Considering the clinical, hematological, biochemical, and ultrasonographic presentation associated with the age of the patient, renal dysplasia was suspected. The patient's clinical condition progressed to loss of consciousness and convulsions, followed by death. Necropsy revealed pale, hypotrophic kidneys with firm consistency, irregular capsular surface containing multiple cortical cysts of different sizes, and altered cortico-medullar proportion. . Kidney fragments were sent to the Laboratory of Histopathology of the State University of Santa Cruz. Histopathological analysis revealed a marked alteration of renal architecture with glomeruli and immature tubules (adenomatous aspect), persistent primitive mesenchyme, and remnants of the metanephric ducts, as well as tubular dilatation associated with marked interstitial fibrosis, discrete lymphohistiocytic interstitial nephritis, and multifocal areas of mineralization.Discussion: The clinical changes observed in the present case occurred as a consequence of chronic kidney failure caused by RD and included anorexia, apathy, vomiting, bloody diarrhea, polyuria, polydipsia, and dehydration. These alterations were also found in other reported cases. The macroscopic findings were similar to those described in the literature and are characteristic of chronic kidney disease: small, firm, pale-colored kidneys. Microscopic changes of renal dysplasia include persistent metanephric ducts surrounded by primitive mesenchyme, glomeruli and fetal tubules, and abnormal interstitial fibrous tissue. In the histopathological renal evaluation in the present report, morphological alterations compatible with the described alterations in the literature were observed, thus allowing the diagnosis of renal dysplasia. Renal dysplasia can affect young dogs of different breeds, causing clinical manifestations of chronic kidney disease. In view of this, this disease should be included as a differential diagnosis in patients under 3 years old who present signs of chronic nephropathy.

Clinical Characteristics of Patients on Long-term Hemodialysis.

To study the clinical characteristics of patients on hemodialysis for more than ten years in order to highlight the modifiable factors that may improve survival in low socioeconomic status. Observational cross-sectional study. Department of Nephrology, The Kidney Centre Postgraduate Training Institute (TKCPGTI), Karachi, from November 2017 to January 2018. Clinical records of 38 patients, who have been on thrice weekly hemodialysis for more than ten years at the study centre with registration period from 1989 to 2018, were reviewed. The participants were placed in three groups according to duration of hemodialysis: 10 to 15 years; 15 to 20 years, and >20 years. Background information (age, gender, age at initiation of hemodialysis, cause of renal failure), dialysis dose (urea reduction ratio), anemia (hemoglobin), bone-mineral metabolism (calcium, phosphate and iPTH), and nutrition (albumin) were evaluated. The parameters were compared among the groups and with respect to K/DOQI and EBPG guidelines. Mean age at institution of hemodialysis was 33.5 years. The most common cause of End Stage Renal Disease (ESRD) was of unknown etiology (bilateral small shrunken kidneys). Chronic sclerosing glomerulonephritis was the second most common cause. The mean hemoglobin level was 10.98 +1.4 g/dL. Mean phosphate, calcium and iPTH were 4.75 ±1.34 mg/dL, 9.62 ±0.64 mg/dL and 281.5 pg/ml, respectively. Serum albumin was 3.66 ±0.39 mg/dL. These indexes were comparable to recommended guidelines. Clinical characteristics and other profiles of patients on hemodialysis for more than 10 years are comparable to the standard K/DOQI and EPBG guidelines. We believe that complying the standard guidelines for management of patients on chronic hemodialysis can result in better long-term outcome and survival in our population.

Peritoneal dialysis for autosomal dominant polycystic kidney disease: a retrospective study.

To describe the long-term clinical outcomes of patients with autosomal dominant polycystic kidney disease (ADPKD) who are on peritoneal dialysis (PD) therapy. We performed a retrospective matched-cohort analysis comparing the clinical outcomes of 30 ADPKD patients with those of 30 non-diabetic patients who had bilateral small kidneys between July 1 2007 and July 31 2014. The patient groups were matched by age, gender, and time of PD initiation. There were no significant differences in the demographic or biochemical parameters, comorbid conditions, residual glomerular filtration rate, or Charlson comorbidity score at the beginning of PD. The median renal volume was 1315 ml for the ADPKD group and 213 ml for the control group. Patients with ADPKD had similar 3-year patient survival (90.6% versus 86.3%, P=0.807) and technique survival (89.2% versus 74.3%, P=0.506) compared with non-ADPKD patients. Also, there was no significant difference in the peritonitis-free survival between the ADPKD and control groups (P=0.22), and rates of peritonitis were similar (0.19 versus 0.21 episodes per patient-year, P=0.26). No differences were observed in the incidence of PD-related complications, such as hernia and dialysate leak. ADPKD is not a contraindication for PD, and a subgroup of ADPKD patients with relatively small kidney volume can be treated using PD.

Pelvic Lipomatosis Causing Renal Failure.

Observation A 34-year-old Cape Verdean male with terminal chronic renal failure of unknown etiology since two years was referred to the urology department for a second opinion after finding an infiltrative mass on routine renal ultrasound. The patient was nonobese and otherwise asymptomatic. Clinical examination revealed a large palpable mass in the pelvis. Laboratory examination showed highly elevated blood levels of creatinine (10.98 mg/dL (nl: 0.67– 1.17 mg/dL)) and urea (123 mg/dL (nl: 16.6–48.5 mg/dL)). We decided to perform a contrast-enhanced CT scan for further evaluation of the mass. The application of contrast agents in this patient with renal failure was permitted because these contrast agents were washed out by dialysis afterwards. The CT examination showed a large pelvic infiltration by fatty tissue with typical attenuation (–40 to –100 Hounsfield units) (Figure 1, arrows) and bilateral small kidneys with atrophy and hydroureteronephrosis. The fatty tissue caused extrinsic compression of the bladder (Figures 1, 2, and 3, white star) and rectum (Figure 2, black star) resulting in morphological deformity. The findings led to the diagnosis of pelvic lipomatosis with secondary chronic renal failure.

An early breathing disorder in a newborn: Jeune syndrome

Introduction: Jeune syndrome affects an estimated 1 in 100.000 to 130.000 people. The syndrome causes breathing disorders and upper or lower respiratory tract infections because of thoracic cage which is smaller and narrower than usual. Case: Here we report a male newborn presented with narrow thoracic cage and short limbs. Radiological evaluation with PA chest graphy showed abnormal short ribs. 3D CT showed decreased antero-posterior diameter of chest cavity, horizontally located round ended ribs, and shallow acetabular cavity. Abdomen ultrasonography detected bilateral small kidneys accompanied by left pelvi-caliectasis and milimetric intraparanchimal liver calcification. Following recurrent lower respiratory tract infections, the baby expired within fourth month. The final diagnosis was Jeune syndrome. Conclusion: Jeune syndrome is a rare seen congenital anomaly. Radiological evaluation is essential for the diagnosis. Characteristic findings include many skeletal abnormalities on costochondral junctions, clavicles, iliac bones, long bones of the extremities, and phalanges of both hands and feet. About 60% to 70% of children with this condition die from respiratory failure as babies or young children which are the problem. Early diagnosis to decrease mortality is highly dependent on the early diagnosis of this syndrome.

Update on uncertain etiology of chronic kidney disease in Sri Lanka's north-central dry zone.

This manuscript updates a review previously published in a local journal in 2012, about a new form of chronic kidney disease that has emerged over the past two decades in the north-central dry zone of Sri Lanka, where the underlying causes remain undetermined. Disease burden is higher in this area, particularly North Central Province, and affects a rural and disadvantaged population involved in rice-paddy farming. Over the last decade several studies have been carried out to estimate prevalence and identify determinants of this chronic kidney disease of uncertain etiology. Summarize the available evidence on prevalence, clinical profile and risk factors of chronic kidney disease of uncertain etiology in the north-central region of Sri Lanka. PubMed search located 16 manuscripts published in peer-reviewed journals. Three peer-reviewed abstracts of presentations at national scientific conferences were also included in the review. Disease prevalence was 5.1%-16.9% with more severe disease seen in men than in women. Patients with mild to moderate stages of disease were asymptomatic or had nonspecific symptoms; urinary sediments were bland; 24-hour urine protein excretion was <1 g; and ultrasound demonstrated bilateral small kidneys. Interstitial fibrosis was the main pathological feature on renal biopsy. The possibility of environmental toxins affecting vulnerable population groups in a specific geographic area was considered in evaluating etiological factors. Pesticide residues were detected in affected patients' urine, and mycotoxins detected in foods were below maximum statutory limits. Calcium-bicarbonate-type water with high levels of fluoride was predominant in endemic regions. Significantly high levels of cadmium in urine of cases compared to controls, as well as the disease's dose-related response to these levels, has drawn attention to this element as a possible contributing factor. Familial clustering of patients is suggestive of a polygenic inheritance pattern comparable to that associated with diseases of multifactorial etiology. Available data suggest that chronic kidney disease of uncertain etiology is an environmentally acquired disease, but to date no definitive causal factor has been identified. Geographic distribution and research findings suggest a multifactorial etiology.

Oligomeganephronia in an adult without end stage renal failure

A 23year-old male was investigated for hypertension, moderate renal insufficiency, persistent proteinuria and bilateral small kidneys. The renal pathological features were diagnostic with greatly enlarged glomeruli (the mean diameter was 325μm, which was approximately two times larger than normal glomeruli), indicating oligomeganephronia (OMN). He also showed malrotated kidneys, expanded extrarenal pelvis, and hearing loss. Thus, these clinical and pathological features aided in diagnosing the renal disorder as OMN. This is a very rare case of OMN, which did not advance to end-stage renal failure as an adult. We believe that multiple anomalies might be suggestive findings of OMN in patients, such as renal insufficiency, persistent proteinuria, and bilateral small kidneys.

Giant cell transformation of podocytes: A unique histological feature associated with cystinosis

Fanconi's syndrome is an unusual cause of renal insufficiency in pediatric patients. Infantile cystinosis is one of the identifiable and treatable etiologies of Fanconi's syndrome. Early diagnosis of cystinosis permits institution of specific therapy with cysteamine. A 3-year-old girl presented with failure to thrive, polyuria, and polydipsia. She was found to have renal tubular defect with renal dysfunction and bilateral small contracted kidneys. A renal biopsy revealed extensive giant cell transformation of podocytes in the glomeruli with focal tubular atrophy and dilatation. However, no crystals were identified. Subsequent ophthalmoscopic examination revealed fine cystine crystals in the cornea and a diagnosis of cystinosis causing Fanconi's syndrome was made. Polykaryocytic transformation of visceral epithelial cells is an important diagnostic clue of nephropathic cystinosis and should be carefully looked for in renal biopsy from a child with Fanconi's syndrome and renal insufficiency.

Air in the Urinary System

A 76-year-old man presented with a 2-day history of progressive and sharp lower abdominal pain of moderate severity, associated with urinary frequency and hematuria. Medical history included uncontrolled type 2-diabetes mellitus, stage 3 chronic kidney disease and neurogenic bladder. He had self-catheterized himself for 1 year. Physical findings were tenderness in the left lower quadrant and suprapubic area. Computed tomography scan of the abdomen showed bilateral small kidneys with hydronephrosis.

Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion

A 7-year-old Japanese girl with conductive deafness and preauricular fistulae developed proteinuria. She had renal insufficiency, and ultrasound revealed bilateral small kidneys. These findings indicated that she had branchio-oto-renal (BOR) syndrome. In the present patient, we identified, by using multiplex ligation-dependent probe amplification (MLPA) analysis, a heterozygous EYA1 gene deletion comprising at least exons 5 to 7. In her parents, we did not detect any deletion in EYA1 by MLPA, so the deletion was a de novo mutation. PCR analysis and sequencing of patient DNA revealed a heterozygous approximately 17 kb EYA1 deletion starting from the eight last bases of exon 4 and proceeding to base 1,217 of intron 7. Furthermore, in place of this deleted region was inserted a 3756-bp-long interspersed nuclear elements-1 (LINE-1, L1). Accordingly, RT-PCR showed that exons 4-7 were not present in EYA1 mRNA expressed from the mutated allele. Although there are reports of L1 element insertion occurring in various human diseases, this is the first report of a large EYA1 deletion in combination with L1 element insertion.

Single-Setting Bilateral Hand-Assisted Laparoscopic Partial Nephrectomy

To assess the feasibility and safety of single-setting bilateral hand-assisted laparoscopic partial nephrectomy. Between August 2003 and June 2004, we performed single-setting bilateral laparoscopic partial nephrectomies on three patients. A hand-assisted approach was used, employing the same hand-assistance incision for both sides. Renal hilar clamping was not required, as the depth of penetration of all six tumors was only 0 to 4 mm (mean, 1.8 mm). The tumor diameters ranged from 1.8 to 3.8 cm (mean, 2.4 cm). All operations were performed successfully, with no conversion to open surgery. Excision was performed with bipolar forceps, and final hemostasis was obtained with an argon beam coagulator (Valleylab, Boulder, CO) and Floseal (Baxter, Deerfield, IL), without suturing. The mean estimated blood loss was 208 mL. The mean operative time was 246 minutes, which included repositioning. There were no intraoperative complications, and the postoperative course was uneventful in all patients except for a hospital stay of 5 days in one patient owing to transient ileus. Pathology revealed a benign lesion on one side and renal cell carcinoma on the other side in two patients, and bilateral leiomyomas in one patient. All margins of resection were negative, and neither of the two patients with cancer has had recurrence at a mean follow-up of 51 months. Among all three patients, the mean preoperative serum creatinine was 0.9 mg/dL, and the average level at a mean of 35 months postoperatively was 1.0 mg/dL. Single-setting bilateral hand-assisted laparoscopic partial nephrectomies can be safely and effectively performed on patients with bilateral small exophytic kidney tumors. We do not recommend this technique if both kidneys require temporary hilar occlusion, but it can be considered if only one kidney requires hilar occlusion.