ArticlePloS one2017
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- Case Report: Post-transplant lymphoproliferative disorder after kidney transplantation in a child with schimke immuno-osseous dysplasia.Frontiers in immunology · 2026Article
- Myasthenia Gravis in a Child With Schimke Immuno-Osseous Dysplasia: A Case Report.Clinical case reports · 2025Article
- Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.Kidney international reports · 2025Article
- Uncommon Factors Leading to Nephrotic Syndrome.Biomedicines · 2025Review
- Expanding the Clinical Features of Schimke Immuno-osseous Dysplasia: a New Patient with a Novel Variant and Novel Clinical FindingsJournal of clinical research in pediatric endocrinology · 2025Article
- When should the nephrologist think about genetics in patients with glomerular diseases?Clinical kidney journal · 2025Review
- Different growth patterns in two siblings with Schimke immuno-osseous-dysplasia.Pediatric nephrology (Berlin, Germany) · 2025Article
- Genetic and Clinical Features of Schimke Immuno-Osseous Dysplasia: Single-Centre Retrospective Study of 21 Unrelated Paediatric Patients over a Period of 20 Years.International journal of molecular sciences · 2025Article
- Case Report: Maribavir for refractory cytomegalovirus viremia after renal transplantation in a child with Schimke's immune-osseous dysplasia.Frontiers in immunology · 2025Article
- Schimke immunoosseous dysplasia (SIOD): Delayed onset of rare disease and novel variant.Qatar medical journal · 2025Article
- Oral Diseases as a Manifestation of Inborn Errors of Immunity.Journal of clinical medicine · 2024Review
- Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience.Journal of clinical immunology · 2024Article
- Schimke immuno-osseous dysplasia. A case report in Colombia.Molecular genetics and metabolism reports · 2023Article
- Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic.Italian journal of pediatrics · 2023Article
- T-cell receptor signaling in Schimke immuno-osseous dysplasia is SMARCAL1-independent.Frontiers in immunology · 2022Article
- A novel compound heterozygous variant inThe Journal of international medical research · 2021Article
- Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells.International journal of molecular sciences · 2020Article
- An unusual cause of nephrotic syndrome: Answers.Pediatric nephrology (Berlin, Germany) · 2019Article
- Whole Exome Sequencing Identified a Novel BiallelicFrontiers in genetics · 2019Article
- RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.European journal of human genetics : EJHG · 2018Article
Corrections and comments
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Authors and funding
25 authors.
Funding
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Abstract
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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