title: Familial juvenile nephronophthisis.
abstract: Familial juvenile nephronophthisis (NPH) is an autosomal recessive interstitial nephritis leading to terminal renal failure around puberty. Associations with extrarenal symptoms have been reported, mainly with Leber amaurosis (termed Senior-Løken syndrome). By means of linkage analysis a gene NPH1 for the purely renal form of NPH has been localized to chromosome 2. Genetic heterogeneity has been shown between NPH and Senior-Løken syndrome and also within the group of isolated NPH cases. Further characterization of the NPH1 region led to the isolation of large homozygous deletions in approximately 70% of patients with NPH. The detection of these deletions by PCR represents a simple noninvasive method for precise diagnosis in the majority of patients suspected of having NPH.
authors.affiliation: INSERM U423, Hôpital Necker, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Konrad
authors.forename: S
authors.initials: S
authors.lastname: Saunier
authors.forename: J
authors.initials: J
authors.lastname: Calado
authors.forename: M C
authors.initials: MC
authors.lastname: Gubler
authors.forename: M
authors.initials: M
authors.lastname: Broyer
authors.forename: C
authors.initials: C
authors.lastname: Antignac
mesh_terms: D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D009395:Nephritis, Interstitial / Q000235:genetics*