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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis.

Autosomal recessive polycystic kidney disease (ARPKD) is characterized by different proportions of cystic dilated collecting ducts invariably associated with congenital hepatic fibrosis. Because of the nearly regular arrangement of nephrons and collecting ducts, disturbances have been postulated to act rather late on embryological grounds. Prenatal diagnoses seem to confirm this observation, as can be demonstrated in our cases and those reported in the literature. Increased echogenicity and renal enlargement are the main ultrasonographic signs of ARPKD; oligohydramnios is characteristic but not always present. Repeated sonographic measurements of the kidney length seem to be the most useful parameter. As differential diagnoses, autosomal dominant polycystic kidney disease as well as Meckel syndrome have to be taken into consideration. The prognosis of cases with oligohydramnios is usually poor. In genetic counselling, the possibility of prenatal diagnosis in the second trimester of pregnancy should be given with caution.[1]


  1. Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis. Zerres, K., Hansmann, M., Mallmann, R., Gembruch, U. Prenat. Diagn. (1988) [Pubmed]
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