hypophosphatemic rickets, X linked recessive
Jump to navigation
Jump to search
Introduction
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
- serum chemistry