ArticleBMC nephrology2020
Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: a case report.
Article in BMC nephrology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 16 citations in OpenAlex.
- Podocyte infolding glomerulopathy in a Japanese girl with systemic lupus erythematosus.CEN case reports · 2026Article
- Uncommon Factors Leading to Nephrotic Syndrome.Biomedicines · 2025Review
- Podocyte infolding glomerulopathy in a school-aged child.Pediatric nephrology (Berlin, Germany) · 2025Article
- 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
- 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
- Podocyte Infolding Glomerulopathy: A Special Morphology of Podocyte Injury Caused by Heterogeneous Diseases.Kidney international reports · 2023Article
- Integrated Chinese and Western medicine in the treatment of a patient with podocyte infolding glomerulopathy: A case report.World journal of clinical cases · 2023Article
- Podocyte Infolding Glomerulopathy: A Case Series Report and Literature Review.Journal of clinical medicine · 2023Article
- T-cell receptor signaling in Schimke immuno-osseous dysplasia is SMARCAL1-independent.Frontiers in immunology · 2022Article
- A case of Podocytic Infolding Glomerulopathy with SLE and literature review.BMC nephrology · 2021Review
- Podocyte Infolding Glomerulopathy, First Case Report From North America.Canadian journal of kidney health and disease · 2021Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSchimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, progressive renal insufficiency and defective cellular immunity. Podocytic infolding glomerulopathy (PIG) is a newly proposed disease entity characterized by microspheres or microtubular structures associated with podocytes infolding into the glomerular basement membrane (GBM) on electron microscopy (EM). CASE PRESENTATION: A 4-year-old boy was admitted to our ward due to proteinuria and edema lasting 1 month. He had a short trunk and demonstrated subtle dysmorphology, with a triangular shape, a broad nasal bridge and a bulbous nasal tip. The laboratory findings were as follows: lymphocytes, 0.5 × 10
conclusionThe pathogenic mechanism of PIG has not been clarified. Further studies are required to understand whether gene mutations, especially those related to podocytes, contribute to the pathogenesis of podocytic infolding.
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