Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0032617 (
polyuria
)
3,056
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Dent's disease is an X-linked renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrocalcinosis or nephrolithiasis. The disease is caused by mutations in a renal chloride channel gene,
CLCN5
. We report on three boys, of Indian origin, with Dent's disease that presented at an early age (1-4 years), with
polyuria
, polydipsia, salt craving, recurrent vitamin A-responsive night blindness, hypophosphataemic rickets, hypercalciuria and low molecular weight proteinuria. All these patients were found to have novel mutations in the
CLCN5
gene.
...
PMID:Vitamin A responsive night blindness in Dent's disease. 1944 83
