Renal tubular dysgenesis

Fabrice Cuillier, MD

Department of Gynecology, FĂ©lix Guyon Hospital, 97400 Saint-Denis, Ile de la RĂ©union, France.

Case report

A 31-year-old woman (G1P0) with history of a pregnancy affected by fetal renal tubular dysgenesis (see her previous case here) presented to our unit at 17 weeks. Her ultrasound at 13 weeks was normal (image 1) and so was the following triple test. The fetal kidney looked normal at 17 weeks (images 2, 3), but later at 22 weeks they appeared hyperechoic (image 4) and severe oligohydramnios was present. The renal tubular dysgenesis was suspected again and the parents opted for the interruption of the pregnancy at 24 weeks. Following pathological study confirmed the diagnosis. The recurrence risk of this anomaly is 25 %.

Image 1: The image shows normal appearance of the fetal kidneys at kidneys at 13 weeks of pregnancy.

1

Images 2, 3: 17 weeks of pregnancy; the kidney and urinary bladder look normal and normal amount of amniotic fluid was present.

2A
2B

Image 4: 22 weeks - the kidney look hyperechoic and concomitant severe oligohydramnios is present.

3

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