familial juvenile nephronophthisis


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.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
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Atypical macular coloboma (dysplasia) associated with familial juvenile nephronophthisis and skeletal abnormality.
A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. Hum Mol Genet.
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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