Steroid-resistant nephrotic syndrome in a child with dysmorphic features: Answers

Safder, Osama; El-Desoky, Sherif M.; Böckenhauer, Detlef; Sebire, Neil J.; Kari, JA

doi:10.1007/s00467-014-2754-2

Pediatr Nephrol

2014

DOI: 10.1007/s00467-014-2754-2

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Steroid-resistant nephrotic syndrome in a child with dysmorphic features: Answers

Osama Safder

Sherif M. El-Desoky

Detlef Böckenhauer

et al.

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“… 4 , 5 We have reported mutations of only NPHS1, NPHS2, and WT1, and, therefore, some children with negative mutations initially were found to have other mutations such as TRPC6 6 or SMARCAL1. 7 , 8 Furthermore, we believe that we have other undiscovered mutations in our area as the underlying cause of childhood SRNS. We agree with Dr. Mubarak about the need for mult-center studies of larger scale and prospective nature, to develop international guidelines on the clinical utility of genetic testing in childhood SRNS.…”

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Reply to RE: Steroid-resistant nephrotic syndrome: impact of genetic testing

Kari

2014

Annals of Saudi Medicine

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confidence: 92%

Reply to RE: Steroid-resistant nephrotic syndrome: impact of genetic testing

Kari

2014

Annals of Saudi Medicine

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Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

et al. 2017

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Schimke immuno-osseous dysplasia (SIOD) is a rare multisystem disorder with early mortality and steroid-resistant nephrotic syndrome (SRNS) progressing to end-stage kidney disease. We hypothesized that next-generation gene panel sequencing may unsurface oligosymptomatic cases of SIOD with potentially milder disease courses. We analyzed the renal and extrarenal phenotypic spectrum and genotype-phenotype associations in 34 patients from 28 families, the largest SMARCAL1-associated nephropathy cohort to date. In 11 patients the diagnosis was made unsuspectedly through SRNS gene panel testing. Renal disease first manifested at median age 4.5 yrs, with focal segmental glmerulosclerosis or minimal change nephropathy on biopsy and rapid progression to end-stage kidney disease (ESKD) at median age 8.7 yrs. Whereas patients diagnosed by phenotype more frequently developed severe extrarenal complications (cerebral ischemic events, septicemia) and were more likely to die before age 10 years than patients identified by SRNS-gene panel screening (88 vs. 40%), the subgroups did not differ with respect to age at proteinuria onset and progression to ESKD. Also, 10 of 11 children diagnosed unsuspectedly by Next Generation Sequencing were small at diagnosis and all showed progressive growth failure. Severe phenotypes were usually associated with biallelic truncating mutations and milder phenotypes with biallelic missense mutations. However, no genotype-phenotype correlation was observed for the renal disease course. In conclusion, while short stature is a reliable clue to SIOD in children with SRNS, other systemic features are highly variable. Our findings support routine SMARCAL1 testing also in non-syndromic SRNS.

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Steroid-resistant nephrotic syndrome in a child with dysmorphic features: Answers

Cited by 2 publications

References 16 publications

Reply to RE: Steroid-resistant nephrotic syndrome: impact of genetic testing

Reply to RE: Steroid-resistant nephrotic syndrome: impact of genetic testing

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

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