nephronophthisis
Last reviewed 01/2018
- this is an inherited medullary cystic disease
- the juvenile form of nephronophthias is inherited as an autosomal recessive trait - this form causes 10-20% of cases of paediatric end-stage renal failure
- clinical features include:
- urinary symptoms - polyuria, polydipsia, enuresis
- biochemical - metabolic acidosis, renal impairment, end-stage renal failure
- anaemia and growth retardation
- extrarenal manifestations include:
- retinitis pigmentosa
- retinal degeneration
- cerebellar ataxia
- liver fibrosis
The adult form of nephronophthisis is inherited as an autosomal dominant trait. This condition does not have extrarenal manifestations. It is rare.