Familial juvenile nephronophthisis

J Mol Med (Berl). 1998 Apr;76(5):310-6. doi: 10.1007/s001090050222.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 2 / genetics
  • Female
  • Genetic Heterogeneity
  • Humans
  • Male
  • Nephritis, Interstitial / genetics*