Perinatology.  2023 Mar;34(1):28-35. 10.14734/PN.2023.34.1.28.

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

• Suh KW
• Jeong JE
• Hong SY
• Bae JY

• KMID: 2544107
• DOI: http://doi.org/10.14734/PN.2023.34.1.28

Abstract

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.

Keyword

Polycystic kidney diseases; Postnatal care; Prenatal diagnosis; Nephrectomy