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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.
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.
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.
Identical progression of juvenile hereditary nephronophthisis in monozygotic twins.
Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders.