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Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia
BS. Lipska-Ziętkiewicz, J. Gellermann, O. Boyer, O. Gribouval, S. Ziętkiewicz, JA. Kari, MA. Shalaby, F. Ozaltin, J. Dusek, A. Melk, AK. Bayazit, L. Massella, L. Hyla-Klekot, S. Habbig, A. Godron, M. Szczepańska, B. Bieniaś, D. Drożdż, R. Odeh,...
Language English Country United States
Document type Journal Article
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- MeSH
- Arteriosclerosis diagnosis genetics pathology MeSH
- Child MeSH
- DNA Helicases genetics MeSH
- Adult MeSH
- Phenotype MeSH
- Genetic Testing MeSH
- Genotype MeSH
- Cohort Studies MeSH
- Infant MeSH
- Kidney pathology MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Mutation MeSH
- Nephrotic Syndrome diagnosis genetics pathology MeSH
- Osteochondrodysplasias diagnosis genetics pathology MeSH
- Pulmonary Embolism diagnosis genetics pathology MeSH
- Child, Preschool MeSH
- Immunologic Deficiency Syndromes diagnosis genetics pathology MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Infant MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Child, Preschool MeSH
- Publication type
- Journal Article MeSH
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.
Department of Pediatric Nephrology Cukurova University Adana Turkey
Department of Pediatric Nephrology Lublin Medical University Lublin Poland
Department of Pediatric Nephrology Pediatrics and Oncology Center Chorzów Poland
Department of Pediatric Nephrology University Children's Hospital Cologne Germany
Department of Pediatrics School of Medicine University of Jordan Amman Jordan
Department of Pediatrics University Hospital Motol Prague Czech Republic
Inserm U1163 Imagine Institute Paris Descartes University Paris France
Pediatric Kidney Liver and Metabolic Disease MHH Children´s Hospital Hannover Germany
Pediatric Nephrology Unit Department of Pediatrics Bordeaux University Hospital Bordeaux France
References provided by Crossref.org
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- $a Lipska-Ziętkiewicz, Beata S $u Department of Biology and Medical Genetics, Clinical Genetics Unit, Medical University of Gdansk, Gdansk, Poland.
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- $a 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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