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nephrolithiasis type 2 (Dent disease 1)
Pathology:
- renal disease belonging to the 'dent disease complex'
- hypercalciuria
- hypophosphatemia
- aminoaciduria
- nephrocalcinosis
- nephrolithiasis
- renal insufficiency leading to renal failure in adulthood
- rickets (33% of patients)
- osteomalacia
Genetics:
- X-linked recessive
- associated with defects in CLCN5
Laboratory:
- serum chemistries
- serum phosphate: hypophosphatemia
- urine chemistries
a) urine calcium
b) urine amino acids
General
hereditary nephrolithiasis
Dent disease complex
Database Correlations
OMIM 300009
References
OMIM :accession 300009