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2011-07-23-12 Autosomal recessive polycystic kidney disease © Cuillier www.TheFetus.net
Autosomal recessive polycystic kidney disease

Fabrice Cuillier
, MD

Department of Gynecology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France.
 

Case report

Following images show a case of autosomal recessive polycystic kidney disease diagnosed at a fetus of a 40-year old age woman (G7P6) with non contributive history. She did not undergo first trimester biochemical and ultrasonographic screening, but underwent amniocentesis revealing normal karyotype (46, XX). Her second trimester ultrasound was reported to be normal.

At 33 weeks our exam revealed oligohydramnios, empty feal stomach and urinary bladder, large for date fetus (estimated fetal weight 2600 g) with enlarged hyperechoic kidneys (Images 1-6) and narrow thorax (Images 7, 8).

The appearance of fetal kidneys raised suspicion of autosomal recessive polycystic kidney disease. The newborn was delivered at 37 weeks and died a few hours later due to respiratory failure. Pathologic examination confirmed the diagnosis of autosomal recessive polycystic kidney disease.

Images 1, 2, 3, 4, 5, and 6: 33 weeks; enlarged hyperechoic kidneys.

 

 

 

Images 7, 8: 33 weeks; narrow thorax and hyperechoic kidneys.

 

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