familial juvenile nephronophthisis

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wasting disease of the kidney substance.
familial juvenile nephronophthisis a progressive hereditary kidney disease marked by anemia, polyuria, renal loss of sodium, progressing to chronic renal failure, tubular atrophy, interstitial fibrosis, glomerular sclerosis, and medullary cysts.

familial juvenile nephronophthisis

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Mechanism underlying early anaemia in children with familial juvenile nephronophthisis.
A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis.
Besides ARPKD, other entities that combine hepatic fibrosis with renal cysts include renal dysplasia, GCKD, early-onset ADPKD, and familial juvenile nephronophthisis.
The overlapping phenotype of nephronophthisis (eg, familial juvenile nephronophthisis (262,263)), medullary cystic kidney diseases (eg, MCKD1), and ADGCKD is provided via uromodullin ("romodullin storage diseases").

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