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

/neph·ron·oph·thi·sis/ (nef″ron-of´thĭ-sis) wasting disease of the kidney substance.
familial juvenile nephronophthisis  a progressive hereditary kidney disease, marked by anemia, polyuria, and renal loss of sodium, progressing to chronic renal failure, tubular atrophy, interstitial fibrosis, glomerular sclerosis, and medullary cysts.

nephronophthisis

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.

nephronophthisis

wasting disease of the kidney substance.
References in periodicals archive ?
On the one hand it is disappointing that Hildebrandt et al (6) in a recent review on nephronophthisis revealed that an impressive 70% of cases diagnosed with nephronophthisis remain to be associated with a genetic cause, as none of the 9 nephronophthisis types we know thus far are responsible.
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
Infantile chronic tubulointerstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?
The nephronophthisis complex: clinical and genetic aspects.
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.
Identification of a gene locus for Senior-Loken Syndrome in the region of the nephronophthisis type 3 gene.
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.
NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis.
Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus.
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.