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Obstetrics » Obstetrics 2nd And 3rd Trimester
Autosomal recessive polycystic kidney disease
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Author(s) :
Vicente J. Ruiz, MD
Presentation A 29 year old woman, G1, P0, A0 presented for antenatal ultrasound. The gestational age of the fetus at the time of examination was 30w 3d.
Caption: Transverse image of the fetal abdomen
Description: Both the kidneys are enlarged and hyperechoic [delineated by arrows]. This is due to the presence of numerous small cysts that gives this characteristic ultrasound pattern.
Caption: Parasagittal view of the thorax and abdomen
Description: Ascites with a bowel loop floating in the fluid is noted. The enlarged and hyperechoic right kidney is seen again.
Caption: Sagittal view of the thorax and abdomen
Description: This is the same image as the previous one, with all the visualized structures labeled.
Caption: Transverse color Doppler image
Description: There is almost no amniotic fluid. Color Doppler demonstrates the presence of a single umbilical artery.
Differential Diagnosis Autosomal recessive polycystic kidney disease, autosomal dominant polycystic kidney disease
Final Diagnosis Autosomal recessive polycystic kidney disease (also known as infantile or Potter type I polycystic kidney disease).
Discussion This case illustrates the typical ultrasound appearance of infantile polycystic kidney disease, characterized by hyperechoic and enlarged kidneys. The cysts are usually too numerous and too small to be idenditifed seperately and give the typical hyperechoic appearance to the kidneys. The amniotic fluid volume is reduced.  Fetal ascites is also present.

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Follow Up The fetus was born at 32 weeks of gestation, and died two hours later. The diagnosis of autosomal recessive polycystic kidney disease was confirmed at autopsy.
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