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Familial juvenile nephronophthisis
Journal of Molecular Medicine (Berlin, Germany)
|May 20, 1998
Summary
Familial juvenile nephronophthisis (NPH) is a genetic kidney disease. Identifying large deletions in the NPH1 gene aids in diagnosing NPH, a condition causing kidney failure.
Area of Science:
- Genetics
- Nephrology
- Molecular Biology
Background:
- Familial juvenile nephronophthisis (NPH) is an inherited kidney disease.
- It leads to end-stage renal disease in adolescence.
- Extrarenal symptoms, like Leber amaurosis (Senior-Løken syndrome), are sometimes associated.
Purpose of the Study:
- To identify the gene responsible for the renal form of NPH.
- To investigate genetic heterogeneity in NPH and related syndromes.
- To develop a diagnostic method for NPH.
Main Methods:
- Linkage analysis was used to map the NPH1 gene to chromosome 2.
- Characterization of the NPH1 region.
- Polymerase chain reaction (PCR) was employed to detect deletions.
Main Results:
- The NPH1 gene for isolated NPH was localized to chromosome 2.
- Genetic heterogeneity was observed between NPH and Senior-Løken syndrome.
- Large homozygous deletions in NPH1 were found in about 70% of NPH patients.
Conclusions:
- The NPH1 gene is implicated in familial juvenile nephronophthisis.
- PCR detection of NPH1 deletions offers a simple, noninvasive diagnostic tool.
- This method can diagnose the majority of suspected NPH cases.