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retinal renal dysplasia syndrome
Genetics:
- autosomal recessive
Pathology:
1) retinal pigment degeneration
2) shrunken kidneys
3) cystic changes in the renal medulla
Clinical manifestations:
1) presents in childhood
2) polyuria
3) polydipsia
4) nocturia
5) progressive renal failure in young adulthood
Interactions
disease interactions
General
nephronophthisis
syndrome
References
Medical Knowledge Self Assessment Program (MKSAP) 11, American
College of Physicians, Philadelphia 1998