SciELO - Scientific Electronic Library Online

 
vol.31 issue1Clinical evidence on the use of anti-mtor drugs in renal transplantationHypouricemia and tubular transport of uric acid author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

Related links

  • On index processCited by Google
  • Have no similar articlesSimilars in SciELO
  • On index processSimilars in Google

Share


Nefrología (Madrid)

On-line version ISSN 1989-2284Print version ISSN 0211-6995

Abstract

TORRA BALCELLS, R.  and  ARS CRIACH, E.. Molecular diagnosis of autosomal dominant polycystic kidney disease. Nefrología (Madr.) [online]. 2011, vol.31, n.1, pp.35-43. ISSN 1989-2284.

Autosomal dominant polycystic kidney disease (ADPKD) is the commonest renal inherited disorder. Its estimated prevalence is 1 in 800 individuals. ADPKD patients constitute 8% of the population on dialysis or renal transplantation. The diagnosis of the disease can be made using radiological or genetic procedures. In Spain, we are now able to perform a direct genetic diagnosis of the disease, however it is neither an easy test nor cheap. This is why every case should be considered by means of an individualized approach to determine the appropriateness of genetic testing and to determine which genetic test is more adequate. Genetic testing in ADPKD is especially interesting for living donors, neonatal and sporadic cases. Genetic testing offers the chance to perform prenatal or preimplantation testing of embryos in families with severe disease. Also, the guarantee of a doubtless diagnosis will permit to treat sporadic cases, when treatment becomes available.

Keywords : ADPKD; Autosomal dominant polycystic kidney disease; Genetic diagnosis; PKD1; PKD2; Mutations.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )

 

Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License