Toya Yukiko, Ishikawa Ken, Yoshida Taro, Matsumoto Atsushi, Akasaka Manami, Nozu Kandai
Department of Pediatrics, Iwate Medical University, Iwate, JPN.
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, JPN.
Cureus. 2023 Mar 25;15(3):e36667. doi: 10.7759/cureus.36667. eCollection 2023 Mar.
We reported a dichorionic diamniotic placental twin (DD twin) with a family history of a congenital nephrotic syndrome of the Finnish type (CNF), of which the parent had heterozygous for the gene mutation. The DD twin was born at 36 weeks gestation, and their fused placenta weighed 1,340 g. Although the first-born child had heavy proteinuria and hypoalbuminemia and needed daily albumin replacement to manage severe edema, the second had only mild proteinuria after birth. Genetic testing performed 28 days after birth detected homozygous for the gene mutation in only the first-born child but not in the second, which resulted in performing invasive left nephrectomy and peritoneal dialysis (PD) to manage edema in the first. For DD twins with a family history of CNF, prenatal diagnosis of CNF may be difficult. Therefore, close postnatal clinical observation and early genetic testing are essential for the diagnosis of CNF.
我们报告了一例双绒毛膜双羊膜胎盘双胎（DD双胎），其家族有芬兰型先天性肾病综合征（CNF）病史，父母为该基因突变的杂合子。该DD双胎在妊娠36周时出生，其融合胎盘重1340克。虽然第一个出生的孩子有大量蛋白尿和低白蛋白血症，需要每日补充白蛋白以控制严重水肿，但第二个孩子出生后仅有轻度蛋白尿。出生后28天进行的基因检测仅在第一个出生的孩子中检测到该基因突变的纯合子，第二个孩子未检测到，这导致对第一个孩子进行了侵入性左肾切除术和腹膜透析（PD）以控制水肿。对于有CNF家族史的DD双胎，产前诊断CNF可能困难。因此，产后密切的临床观察和早期基因检测对于CNF的诊断至关重要。
