Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder that is both genetically and clinically heterogeneous. To date 19 genes have been associated with BBS, which encode proteins active at the primary cilium, an antenna-like organelle that acts as the cell’s signaling hub. In the current study, a combination of mutation screening, targeted sequencing of ciliopathy genes associated with BBS, and whole-exome sequencing was used for the genetic characterization of five families including four with classic BBS symptoms and one BBS-like syndrome. This resulted in the identification of novel mutations in BBS genes ARL6 and BBS5, and recurrent mutations in BBS9 and CEP164. In the case of CEP164, this is the first report of two siblings with a BBS-like syndrome with mutations in this gene. Mutations in this gene were previously associated with nephronophthisis 15, thus the current results expand the CEP164-associated phenotypic spectrum. The clinical and genetic spectrum of BBS and BBS-like phenotypes is not fully defined in Pakistan. Therefore, genetic studies are needed to gain insights into genotype-phenotype correlations, which will in turn improve the clinician’s ability to make an early and accurate diagnosis, and facilitate genetic counseling, leading to directly benefiting families with affected individuals

Poiseuille's law in polyuria

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Valkuil bij een verworven Pelger Huët.

Contains fulltext : 51147.pdf (publisher's version ) (Open Access

Oseltamivir dosing in children undergoing hemodialysis.

Contains fulltext : 89893.pdf (publisher's version ) (Open Access

Preparing for a kidney transplant: Medical nephrectomy in children with nephrotic syndrome

Contains fulltext : 220830.pdf (Publisher’s version ) (Open Access)Nephrotic syndrome is characterized by proteinuria, hypoalbuminemia, and general edema. These symptoms may persist in children who reach ESRD, which is unfavorable for the patient's allograft outcome. In addition, this may hamper early diagnosis of a relapse after transplantation. Surgical bilateral nephrectomy is often considered for that reason, but medical nephrectomy may be a less invasive alternative. In this retrospective single-center case series, we identified all children on dialysis with ESRD due to nephrotic syndrome in which a medical nephrectomy was attempted before kidney transplantation between 2013 and 2018. Outcome was measured by urine output and serum albumin levels. Eight patients with either congenital nephrotic syndrome or focal segmental glomerular sclerosis were included in the study. All patients received an ACE inhibitor as drug of first choice for medical nephrectomy, to which 5 patients responded with oligoanuria and a significant rise in serum albumin, and 3 patients responded insufficiently. In 1 of these 3 patients, diclofenac was added to the ACE inhibitor, with good result. In the other 2 patients, indomethacin was initiated without success, and surgical bilateral nephrectomy was performed. Overall, 6/8 patients had a successful medical nephrectomy and did not need surgical nephrectomy. No recurrence of nephrotic syndrome was found after kidney transplantation in all but one. Medical nephrectomy with ACE inhibitors and/or non-steroidal anti-inflammatory drugs is a safe and non-invasive therapy to minimize proteinuria in children with ESRD due to nephrotic syndrome before kidney transplantation. We suggest that this strategy should be considered as therapy before proceeding with surgical nephrectomy

De rol van 99m-Tc-MAG3 renografie in de postnatale evaluatie van kinderen met verdenking op een congenitale afwijking van de tractus urogenitalis.

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Fetal hydronephrosis: does adding an extra parameter improve detection of neonatal uropathies?

Item does not contain fulltextOBJECTIVE: The aim of this study is to assess the correlation of the average antero-posterior, transverse and longitudinal diameters of the fetal renal pelvis to neonatal outcome. METHODS: This retrospective study evaluates the neonatal outcome of all fetuses with suspected pyelectasis on ultrasonographic examination between May 1997 and March 2006. During this time, 764 fetuses with pyelectasis and 1285 renal units were scanned. We defined fetal pyelectasis as mild if the ARP was >/= 5-/= 10-/= 15 mm. A total of 612 fetuses met the inclusion criteria. The Corteville criteria in the third trimester (antero-posterior diameter >/= 7 mm) and an antero-posterior diameter (AP) of >/= 10 mm were compared with the ARP and likelihood ratio's calculated. Ultrasonographic evaluation took place in the third trimester if fetal pyelectasis was diagnosed as an isolated finding in the second trimester. This last ultrasonographic examination was used for final analysis and as a guideline for postnatal follow-up. Neonatal outcome was assessed by reviewing medical records, ultrasonographic, renographic and voiding cysto-urethrographic results. RESULTS: Of all the fetuses diagnosed with renal pelvis dilatation in the third trimester of pregnancy, 73 (11.9%) infants needed postnatal surgery. The majority of the postnatal surgery was performed in the group of fetuses with severe hydronephrosis (8.2%). This resulted in a LR of 5.81 and a post-test probability of 61.3%. In total, 78.8% of the fetuses with hydronephrosis had spontaneous resolution across all grades of severity on the first postnatal ultrasonogaphic investigation or during their follow-up. In 9.3% of the cases, uropathies were diagnosed, but no surgical intervention had taken place during the follow-up period. Using the Corteville criteria as gold standard for the third trimester (AP >/= 7 mm), 11 (1.8%) patients would not have been diagnosed with uropathies. And in the case of AP >/= 10 mm, 5.1% of the cases would have been missed. CONCLUSION: An ARP of >/= 5 mm in the second and/or third trimester of pregnancy enables a better detection of patients with uropathies and indication for surgery as compared with AP >/= 10 mm, but renders almost similar results compared with the Cortville criteria (AP >/= 7 mm) in the third trimester.1 juli 201

Early transient leg swelling at the side of renal transplant in two children.

Item does not contain fulltextTwo children are described with a huge leg swelling shortly after renal transplantation. The swelling was located at the side of the renal transplant. The swelling was caused by the compression of the iliac vein by the renal transplant combined with perirenal fluid collection. Doppler flow studies allow the exclusion of thrombosis as an explanation for the swelling. An aggressive treatment should be avoided. However, anticoagulation is required