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Dent disease complex
A group of disorders.
Pathology:
- proximal renal tubular defect
- proximal renal tubular acidosis generally not a feature
- hypercalciuria
- nephrocalcinosis
- renal insufficiency
Genetics: type 2 associated with defects in OCRL
Clinical manifestations:
- phenotypic features is similar in the various forms, except for differences in severity of bone deformities & renal impairment
Laboratory:
- 24 hour urine protein low-molecular-weight proteinuria
- urine chemistries may show features of Fanconi syndrome
a) glycosuria
b) aminoaciduria
c) phosphaturia
Specific
hypophosphatemic rickets, X linked recessive
LMW proteinuria with hypercalciuria & nephrocalcinosis
nephrolithiasis type 1
nephrolithiasis type 2 (Dent disease 1)
General
genetic disease of the kidney
Database Correlations
OMIM 300555
References
OMIM :accession 300555