ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2019
[Clinical features and TTC21B genotype of a child with nephronophthisis type 12].
Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Phenotypic and genotypic analysis of pediatric nephronophthisis patients with different levels of proteinuria.Renal failure · 2025Article
- Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants.Molecular genetics & genomic medicine · 2024Review
- A single heterozygous nonsense mutation in the TTC21B gene causes adult-onset nephronophthisis 12: A case report and review of literature.Molecular genetics & genomic medicine · 2022Review
- Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nephronophthisis (NPHP) is a group of autosomal recessive tubulointerstitial cystic kidney disorders. This article reports a case of NPHP type 12 caused by TTC21B mutations. The girl had an insidious onset, with moderate proteinuria, renal dysfunction, stage 2 hypertension, situs inversus, and short phalanges when she visited the hospital for the first time at the age of 3 years and 6 months. The renal lesions progressed to end-stage renal disease (ESRD) before she was 4 years old. Urine protein electrophoresis showed glomerular proteinuria. There were significant increases in urinary β2-microglobulin and α1-microglobulin. Gene detection revealed two compound heterozygous mutations, c.1552T>C (p.C518R) and c.752T>G (p.M251R), in the TTC21B gene, which came from her father and mother respectively. The c.752T>G mutation was a novel mutation. It is concluded that besides typical tubular changes of NPHP, marked glomerular damage is also observed in patients with TTC21B gene mutations.
Indexed as
Identifiers
31208513PMC7389582W3024526558What OpenQuestion holds
Registered trials
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