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Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis
Author(s) -
Zerres K.,
Hansmann M.,
Mallmann R.,
Gembruch U.
Publication year - 1988
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970080308
Subject(s) - oligohydramnios , autosomal recessive polycystic kidney disease , prenatal diagnosis , medicine , polycystic kidney disease , cystic fibrosis , pregnancy , kidney , echogenicity , disease , differential diagnosis , genetic counseling , pathology , cystic kidney disease , pediatrics , fetus , radiology , ultrasonography , biology , genetics
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 sono‐graphic 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.