Autosomal recessive polycystic kidney disease (antenatal ultrasound).
Diagnosis certain
Presentation
Routine obstetric scan at 13 weeks for nuchal lucency.
Patient Data
Age: Adult
Gender: Female
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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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