Kistik Renal Anomalilerin Prenatal Genetik Değerlendirilmesinde Çoklu Açil-CoA Dehidrogenaz Eksikliğini (MADD) Göz Önünde Bulundurmak

Özet (abstract)

ABSTRACT Objective Multiple acyl‐CoA dehydrogenase deficiency (MADD) is caused by variants in the ETFA , ETFB or ETFDH genes. MADD type 1, the most severe phenotype, presents antenatally with congenital anomalies and, commonly, renal cystic anomalies. We describe four prenatal cases with MADD‐related genetic findings, detailed ultrasound findings, and outcomes. Methods This is a retrospective case series presenting the MADD cases detected with associated fetal renal anomalies. The spectrum of congenital anomalies associated with MADD in the brain, heart, and urinary system is documented. Disease‐causing genetic variants are described. Genotype‐phenotype correlations for the variants are also discussed. Results Of 32 cases with prenatally detected renal anomalies who underwent prenatal testing, four cases had MADD‐related genetic findings. In these four cases, three unique variants were reported (one missense variant of uncertain significance and two likely pathogenic frameshift variants). Additional findings seen in our cohort included a double‐outlet right ventricle in one case and bilateral megaureters in another. Prenatal diagnosis of MADD proved beneficial for one couple (case 1) in a subsequent pregnancy. Conclusion MADD is an important monogenic cause to consider for prenatal renal anomalies. These cases exemplify the importance of including this disorder when planning prenatal genetic testing for renal cystic anomalies.

Yazarların özeti; kaynağından alınmıştır. Prenatal Diagnosis, 2026 · DOI ↗