Autosomal Dominant Polycystic kidney Disease (ADPKD)- Mother and fetus – Case By Dr. Nitin Jadhav

Findings and Discussion:

24 wks antenatal scan showing multiple small simple cysts in maternal kidney.

Fetal both kidneys are normal in size however appears more echogenic. No obvious cysts are seen in fetal kidneys. Amniotic fluid is adequate. Rest everything was normal in foetus.

Mother was absolutely asymptomatic and renal cysts noted incidentally. ultrasound features in mother are S/O ADPKD

Appearance of fetal kidneys most likely represent antenatal presentation of ADPKD.

ARPKD usually shows enlarged echogenic kidneys with less liquor.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) on prenatal ultrasound typically presents with:

1. Multiple bilateral kidney cysts

– Cysts can be detected as early as 15-20 weeks gestation

– Size and number of cysts vary

3. Potential associated findings

– Enlarged kidneys

– Increased echogenicity

– Potential oligohydramnios if severe cystic disease

4. Genetic implications

– Autosomal dominant inheritance (PKD1/PKD2 mutations)

– 50% transmission risk if parent affected

5. Prognosis considerations

– Variable disease progression

– Some cases may have minimal impact on renal function

– Requires long-term monitoring

Key management: Genetic counseling, serial ultrasound surveillance, and pediatric nephrology follow-up recommended.