Document Detail

Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance.
MedLine Citation:
PMID:  7922301     Owner:  NLM     Status:  MEDLINE    
We describe a familial form of renal Fanconi syndrome characterized by hypercalciuria, low-molecular-weight proteinuria, nephrocalcinosis and slowly progressive renal failure. Males are much more severely affected than females. The patients studied included 15 males and 10 females, and five families with up to three generations involved. Studies of the two largest families described here have already shown that their disease is inherited on the X-chromosome. The series contains the two unrelated patients originally described by Dent and Friedman in 1964 as 'hypercalcuric rickets'.
O M Wrong; A G Norden; T G Feest
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  QJM : monthly journal of the Association of Physicians     Volume:  87     ISSN:  1460-2725     ISO Abbreviation:  QJM     Publication Date:  1994 Aug 
Date Detail:
Created Date:  1994-11-10     Completed Date:  1994-11-10     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9438285     Medline TA:  QJM     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  473-93     Citation Subset:  IM    
Institute of Urology and Nephrology, University College Medical School, London.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Calcium / urine*
Fanconi Syndrome / genetics*
Kidney Calculi / genetics
Kidney Failure, Chronic / genetics*
Kidney Tubules, Proximal / physiopathology
Middle Aged
Nephrocalcinosis / genetics*
Phosphates / blood,  urine
Proteinuria / genetics*
Rickets / genetics*
Sex Factors
Reg. No./Substance:
0/Phosphates; 7440-70-2/Calcium

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Cardiac effects of sodium stibogluconate: myocardial, electrophysiological and biochemical studies.
Next Document:  Ischaemia of the small intestine in patients with systemic sclerosis: Raynaud's phenomenon or chroni...