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Autosomal recessive polycystic kidney disease
K Zerres1, S Rudnik-Schöneborn, C Steinkamm
1Institut für Humangenetik, Universität Bonn, Germany.
Journal of Molecular Medicine (Berlin, Germany)
|May 20, 1998
Summary
Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder with variable presentation. Genetic mapping to chromosome 6p aids in DNA diagnosis, particularly for prenatal testing in affected families.
Area of Science:
- Genetics
- Pediatrics
- Nephrology
Background:
- Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited renal disorder.
- While often presenting in early childhood, ARPKD exhibits a broader clinical spectrum, including later onset and adult survival.
- The genetic basis of ARPKD has been localized to chromosome 6p, with no evidence of genetic heterogeneity.
Purpose of the Study:
- To summarize the current understanding of Autosomal recessive polycystic kidney disease (ARPKD).
- To highlight the genetic mapping and diagnostic implications of ARPKD.
- To discuss the variability in ARPKD presentation and prognosis.
Main Methods:
- Genetic linkage analysis using recombinant families.
- Gene mapping to chromosome 6p.
- Exclusion of candidate genes.
Main Results:
- The gene responsible for ARPKD has been mapped to chromosome 6p.
- The critical region for the ARPKD gene has been narrowed to approximately 4 cM.
- Several potential candidate genes within this region have been excluded.
Conclusions:
- The genetic locus for ARPKD is on chromosome 6p.
- DNA diagnosis, especially prenatal diagnosis, is crucial for families with a history of ARPKD.
- Further research is needed to identify the specific gene responsible for ARPKD.