nephronophthisis


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nephronophthisis

 [nef″ron-of´thĭ-sis]
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.

nephronophthisis

A progressive tubulo-interstitial kidney disorder histologically characterised by modified tubules, thickened basement membrane, interstitial fibrosis and, in advanced cases, medullary cysts.

Clinical findings
Chronic renal failure, anaemia, polyuria, polydipsia, isosthenuria and growth retardation.
References in periodicals archive ?
Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure.
Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree.
Juvenile nephronophthisis and medullary cystic disease 8.
(40,50) Inversin, the ciliary protein implicated in nephronophthisis type 2, is speculated to provide the connection between mechanosensation of cilia and cyst formation.
The nephronophthisis group of disorders currently comprises 9 different types that correspond to 9 different genes.
Prediagnosis for juvenile nephronophthisis, at a median age of 6 years, is signified by early polyuria and nighttime polydipsia, both related to salt wasting, which results in hyponatremia and hypovolemia.
NPHP1 can interact with other nephronophthisis proteins through its src homology 3 and coiled-coil domains.
The infantile form of nephronophthisis is usually diagnosed during the first few years after birth.
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").
Pathway analysis in nephronophthisis (NPHP3; renalhepatic-pancreatic-dysplasia, RHPD)230 and GCK revealed Wnt signaling and interactions of the nephrocystins/ inversin proteins.
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins.