Autosomal recessive polycystic kidney disease -antenatal.

Case contributed by Dr Imran Ahmad Khan

Presentation

Routine obstetric scan at 13 weeks for nuchal lucency.

Antenatal ultrasound at 13 weeks showing enlarged fetal abdomen almost completely occupied by enlarged kidneys. Both kidneys are significantly enlarged and show numerous tiny cystic interfaces, consistent with autosomal recessive polycystic kidney disease.

Case Discussion

Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder that can be detected on the antenatal ultrasound where it is manifested as enlarged and echogenic fetal kidneys. The kidneys appear echogenic due to numerous tiny cystic interfaces. It can be associated with congenital hepatic fibrosis and pulmonary hypoplasia.

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Case information

rID: 66807
Published: 26th Mar 2019
Last edited: 28th Mar 2019
Inclusion in quiz mode: Included

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