ArticleWorld journal of pediatrics : WJP2014
A novel CLCN5 mutation in a Chinese boy with Dent's disease.
Article in World journal of pediatrics : WJP, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 2 citations in OpenAlex.
- Next-Generation Sequencing in Early Diagnosis of Dent Disease 1: Two Case Reports.Frontiers in medicine · 2018Article
- Proteinuria in Dent disease: a review of the literature.Pediatric nephrology (Berlin, Germany) · 2017Review
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Authors and funding
4 authors at 1 institution in 2 countries.
Funding
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Abstract
backgroundDent's disease is a rare X-linked recessive hereditary disease caused by mutations in either the CLCN5 or OCRL1 genes. This disease is characterized by manifestations of proximal renal tubule dysfunction associated with low molecular weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure.
methodsWe report a Chinese boy with Dent's disease, clinically diagnosed by LMWP and hypercalciuria. Genetic analysis was made of the CLCN5 and OCRL1 genes. Related studies were also reviewed.
resultsA splice site mutation IVS6, +2T>C of the CLCN5 gene was revealed in this case, and it was not reported previously.
conclusionsClinical and genetic analysis is valuable for the diagnosis of Dent's disease. A novel mutation in the CLCN5 gene was identified in our patient.
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