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2004-08-24-10 Autosomal recessive polycystic kidney disease © Cuillier

Autosomal recessive polycystic kidney disease

Fabrice Cuillier, MD

Dept of Obstetrics and Gynecology, Hôpital Félix Guyon, rue des Topazes, 97400 Saint-Denis, Reunion Island, France. Ph : 0262 90 55 22.

This is a case of infantile polycystic kidney disease in a 30-year-old pregnant woman. In 1996, she gave birth at 34 weeks, to a boy with bilaterally enlarged polycystic kidneys, which was diagnosed in the second half of her pregnancy. The baby died at four hours and the diagnosis of autosomal recessive polycystic kidney disease was made. Then she gave birth to two girls without problems.

In the current fourth pregnancy, an ultrasound scan at 16 weeks of gestation revealed bilateral echogenic kidneys of normal size. This was confirmed at 24 weeks of gestation, which then also showed minimal amniotic fluid. Chromosome examination revealed a normal 46 XY karyotype. The parents decided to continue the pregnancy.

These are ultrasound images of the fetal kidney in the transverse and longitudinal sections at 27 weeks. The images show enlarged kidneys with echogenic parenchyma.

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