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Renal manifestations of Dent disease and Lowe syndrome

Cited 52 time in Web of Science Cited 57 time in Scopus
Authors
Cho, Hee Yeon; Lee, Bum Hee; Choi, Hyun Jin; Ha, Il Soo; Choi, Yong; Cheong, Hae Il
Issue Date
2008
Publisher
Springer Verlag
Citation
Pediatr Nephrol 23:243-249
Keywords
Dent diseaseLowe syndromeCLCN5 geneOCRL1 geneGenetic heterogeneity
Abstract
To date, two responsible genes for the development of Dent disease have been identified: CLCN5 and OCRL1. In this study, genotype-phenotype correlations were studied in patients with Dent disease and those with Lowe syndrome. Among the 12 boys with a phenotype typical of Dent disease, nine had a mutation in CLCN5 (Dent disease 1), two had a mutation in OCRL1 (Dent disease 2), and one had no mutations in either gene. All seven boys with a clinical diagnosis of Lowe syndrome had a mutation in OCRL1. Patients with Lowe syndrome showed more frequent hypophosphatemia/rickets and more prominent tubular proteinuria than patients with Dent disease 1, and patients with Dent disease 2 had higher degree of tubular proteinuria and hypercalciuria than patients with Dent disease 1. Additionally, one patient with Dent disease 2 showed a mild degree of developmental delay, elevated serum muscle enzyme levels, and cryptorchidism. In this study, the genetic heterogeneity in Dent disease and the phenotypic heterogeneity in Lowe syndrome were confirmed. In patients with Dent disease, the presence of the above-mentioned extrarenal manifestations indicates that it is more likely that the patient is affected by Dent disease 2 than by Dent disease 1.
ISSN
0931-041X (Print)
Language
English
URI
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18038239

https://hdl.handle.net/10371/25660
DOI
https://doi.org/10.1007/s00467-007-0686-9
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College of Medicine/School of Medicine (의과대학/대학원)Pediatrics (소아과학전공)Journal Papers (저널논문_소아과학전공)
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