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hypophosphatemic rickets, X linked recessive
renal disease belonging to the 'dent disease complex'
Pathology:
- proximal renal tubular defect
- decreased renal tubular phosphate reabsorption
- hypercalciuria
- nephrocalcinosis
- renal insufficiency
Genetics:
- associated with defects in CLCN5
- X-linked
- female carriers may have asymptomatic hypercalciuria or hypophosphatemia only
Clinical manifestations:
- patients present with rickets or osteomalacia
- nephrocalcinosis with progressive renal failure in adulthood
Laboratory:
- urine chemistry
a) urine calcium: hypercalciuria
b) urine protein: low molecular weight proteinuria
- serum chemistry
- serum phosphate: hypophosphatemia
Related
Dent disease complex
General
hereditary rickets
Database Correlations
OMIM 300554
References
OMIM :accession 300554