Resumo

TORRA BALCELLS, R.  e  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.

Palavras-chave : ADPKD; Autosomal dominant polycystic kidney disease; Genetic diagnosis; PKD1; PKD2; Mutations.

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