Title: X-Linked Nephrolithiasis/Dent’s Disease and Mutations in the ClC-5 Chloride Channel
Abstract: In the past several years, a number of syndromes have been defined that, though apparently distinct in several ways, all shared features of hypercalciuria, nephrocalcinosis, and evidence of renal proximal tubular reabsorptive failure; clinically significant disease was confined almost exclusively to males. In both X-linked recessive nephrolithiasis (XRN) in North America (1) and Dent's disease in the United Kingdom (2), calcium nephrolithiasis was a prominent presenting feature, and renal failure often progressed to end-stage. A family described by Buckalew in 1974 had a similar pattern of clinical abnormalities (3). In X-linked recessive hypophosphatemic rickets, described in two families in Italy and France, the most prominent feature was deforming rickets in childhood (4,5); this occurred in a third of patients with Dent's disease and rarely in XRN. In addition, a syndrome of low-molecular-weight (LMW) proteinuria with hypercalciuria and nephrocalcinosis was described in Japanese schoolchildren without kidney stones, clinical bone disease, or significant renal failure (6). The similarities among all of these syndromes were substantial, particularly the consistent finding of LMW proteinuria which strongly suggested proximal tubular dysfunction, as well as hypercalciuria and nephrocalcinosis. Beyond these phenotypic similarities, a common genetic etiology has been identified, and clearly establishes that these are all variants of a single disease.
Publication Year: 2000
Publication Date: 2000-01-01
Language: en
Type: book-chapter
Indexed In: ['crossref']
Access and Citation
Cited By Count: 8
AI Researcher Chatbot
Get quick answers to your questions about the article from our AI researcher chatbot