The article is a review on hereditary polycystic kidney diseases with a special attention on their prenatal genetic diagnosis, as ultrasound examination is often not informative in early pregnancy. The genes causing most of these diseases are already isolated, thus direct mutation-analysis is possible. However in practice indirect linkage analysis is widespread, due to its relatively lower demands on work and costs. Autosomal dominant polycystic kidney disease is a common disorder. Its relationship with hypertension makes it of great importance. Prenatal diagnosis is required in families serious manifestations of the disease in early childhood. Autosomal recessive polycystic kidney disease is more scarce, still more frequently diagnosed prenatally. Early prenatal diagnosis is required, because of the fatal outcome of the disease. The other listed polycystic kidney diseases are constituents of multiple malformation syndromes. In familial cases the most important tool of prenatal diagnosis is the molecular genetic examination.
|Translated title of the contribution||Hereditary cystic kidney diseases|
|Number of pages||7|
|Journal||Lege Artis Medicinae|
|Publication status||Published - Sep 2 1999|
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