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

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 manifestat...

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Published inPERINATOLOGY (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
LanguageKorean
Published 대한주산의학회 2023
Subjects
Nephrectomy
Polycystic kidney diseases
Postnatal care
Prenatal diagnosis
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Summary: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.
ISSN:2508-4887