Resumo

FRAILE GOMEZ, Pilar; GARCIA-COSMES, P.; CORBACHO BECERRA, L.  e  TABERNERO ROMO, J.M.. Clinical analysis of a population with autosomal dominant polycystic kidney disease. Nefrología (Madr.) [online]. 2010, vol.30, n.1, pp.87-94. ISSN 1989-2284.

Autosomal dominant polycystic kidney disease is a multi-organic hereditary disorder. It is responsible for 7-10% of cases of end stage renal failure. It is caused by mutations in the genes PKD1 and PKD2. The diagnosis of this disease can be performed through ultrasounds, but the molecular diagnosis offers some advantages, such as the early detection of asymptomatic individuals who carry this genetic defect, in order to perform a preventive monitoring and genetic counselling. In this work, we present the results of the clinical analysis of 48 patients diagnosed with autosomal dominant polycystic kidney disease. The objectives of this work were to analyze the main clinical aspects of the disease. The average age of appearance of the first symptoms was 41.17 ± 13.41 years in women and 49.91 ± 12.52 years in men (p <0.05). Arterial hypertension was the first sign of the disease (68.42%), with more cases in men than in women (p <0.05), followed by chronic renal failure (68.29 %). The most common renal symptom during the evolution of the disease was chronic renal failure, which was present in all the patients of the study, followed by proteinuria (92.31%), end-stage renal failure (89.58%) and arterial hypertension (87.23%). In summary, our results reveal a high prevalence of patients with polycystic kidney disease who received a late diagnosis. This could possibly explain the high morbi-mortality associated to this condition. Given the high prevalence of chronic renal failure and end-stage renal failure secondary to polycystic kidney disease in our study, the early diagnostic of the disease would carry better pronostic in relation with a more strict clinical follow-up. The arterial hypertension was the most frequent clinical manifestation of the disease in our study by what this entity should be included in all the hypertense patients of unknown etiology and on the other hand, the infectious complications should be a sign of alert in every patient with polycystic kidney disease.

Palavras-chave : Arterial hypertension; Chronic renal failure; End-stage renal failure; PKD1; PKD2; Autosomal dominant polycystic kidney disease.

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