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NPHPNational Public Health Partnership
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Cerebellar vermis hypoplasia/aplasia, oligophrenia, ataxia, ocular coloboma and hepatic fibrosis, primary criteria, mental retardation, liver disorder (fibrosis and histological abnormalities), optic nerve or chorioretinal coloboma, nephronophthisis might be present.
The various forms of nephronophthisis and medullary cystic diseases are clustered together, but medullary sponge kidney is kept separate in a final miscellaneous category.
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.
Atypical macular coloboma (dysplasia) associated with familial juvenile nephronophthisis and skeletal abnormality.
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.
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.