Prenatal Diagnosis of a Fatal Case of Fetal Autosomal Dominant Polycystic Kidney Disease

• Published in: PERINATOLOGY (구 대한주산의학회잡지) Vol. 34; no. 1; pp. 28 - 35
• Main Authors: Kah Won Suh, Ji Eun Jeong, Seong Yeon Hong, Jin Young Bae
• Format: Journal Article
• Language: Korean
• Published: 대한주산의학회 2023
• Subjects: Nephrectomy; Polycystic kidney diseases; Postnatal care; Prenatal diagnosis
• ISSN: 2508-4887

The polycystic kidney disease (PKD) is a genetic disease that can be classified into 2 groups: autosomal dominant and autosomal recessive. Autosomal dominant PKD has a mild to moderate clinical course with an average onset after adulthood. Autosomal recessive PKD can have life-threatening manifestations during the neonatal period, even before birth. Daegu Catholic Universtiy Medical Center had a prenatally diagnosed case of a known autosomal dominant PKD and the fetus suffering fetal hydrops due to severely enlarged polycystic kidneys. A cesarean section was performed at 34 weeks of gestation due to severe fetal hydrops. To relieve abdominal compartment syndrome, the neonate underwent unilateral nephrectomy just after birth but expired 4 days later due to respiratory distress. Hence, there can be a rare but possible case of fatal neonatal outcome in a mother with autosomal dominant PKD. Therefore, we recommend close observation and multifaceted counseling for the patient with family history of autosomal dominant PKD.