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 ?
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.
Due to the great genetic heterogeneity with 9 genes involved thus far, molecular investigation of individual patients with nephronophthisis becomes very difficult, time consuming, and expensive.
Based on the large number of patients, perhaps close to two thirds, without mutations in the presently known genes, it is anticipated that many more genes will be identified to be responsible for nephronophthisis phenotype.
Two clinically indistinguishable types of MCKD, sharing a similar histologic picture with nephronophthisis, have been characterized to this point.
When observing the nephronophthisis group of diseases, as more genes are identified the spectrum of symptoms expands.
91) In the same way, recurrent mutations in all nephronophthisis genes are not observed frequently, while in most cases subjects with a distinct phenotype do not carry mutations in the respective genes and genetic linkage to known loci is excluded.
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.
Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins.
Identical progression of juvenile hereditary nephronophthisis in monozygotic twins.
Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders.