Division of Medical Genetics, Department of Pediatrics, Phramongkutklao Hospital and Phramongkutklao College of Medicine, Bangkok, Thailand.
Department of Pathology, Phramongkutklao Hospital and Phramongkutklao College of Medicine, Bangkok, Thailand.
BMC Pregnancy Childbirth. 2024 Oct 11;24(1):662. doi: 10.1186/s12884-024-06861-w.
Prenatal ultrasound findings of fetal bilateral echogenic kidneys accompanied by oligohydramnios can be highly stressful for both pregnant women and physicians. The diversity of underlying causes makes it challenging to confirm a prenatal diagnosis, predict postnatal outcomes, and counsel regarding recurrence risks in future pregnancies.
We report two cases of abnormal fetal echogenic kidneys with oligohydramnios detected in the early third trimester. Autosomal recessive polycystic kidney disease (ARPKD), a rare genetic syndrome, was initially suspected in both cases. However, postnatal diagnoses differed: the first case was confirmed as glomerulocystic kidney disease (GCKD) through renal pathology, while the second case was diagnosed as ARPKD with a compound heterozygous likely pathogenic PKHD1 mutation.
Prenatal diagnosis of fetal echogenic kidneys with oligohydramnios should prioritize accurate diagnosis. Given the differences in the clinical spectrum, GCKD should be considered a differential diagnosis for this condition, particularly ARPKD. This study highlights the importance and benefits of molecular diagnosis and postnatal renal pathology for precise diagnosis and effective counseling.
胎儿双侧肾脏回声增强伴羊水过少的产前超声表现可能会给孕妇和医生带来高度的精神压力。其潜在病因多样，这使得产前诊断的确认、对出生后结局的预测以及对未来妊娠中复发风险的咨询变得具有挑战性。
我们报告了两例在孕晚期早期发现的胎儿双侧肾脏回声增强伴羊水过少的病例。这两例最初均怀疑为常染色体隐性多囊肾病（ARPKD）这一罕见的遗传综合征。然而，产后诊断结果不同：第一例通过肾脏病理证实为肾小球囊性病（GCKD），而第二例被诊断为 ARPKD，携带 PKHD1 复合杂合可能致病性突变。
胎儿双侧肾脏回声增强伴羊水过少的产前诊断应优先考虑准确诊断。鉴于其临床表现的差异，GCKD 应被视为该疾病的鉴别诊断，特别是 ARPKD。本研究强调了分子诊断和产后肾脏病理学在精确诊断和有效咨询方面的重要性和益处。
