Samara Athina A, Mousios Paschalis, Perros Paraskevas, Koutras Antonios, Manolakos Emmanouil, Anastasakis Eleftherios, Skentou Chara, Dafopoulos Konstantinos, Garas Antonios, Sotiriou Sotirios
Department of Embryology, Faculty of Medicine University of Thessaly Larissa Greece.
Department of Obstetrics and Gynaecology Alexandra General Hospital Athens Greece.
Clin Case Rep. 2025 Aug 27;13(9):e70749. doi: 10.1002/ccr3.70749. eCollection 2025 Sep.
Bartter syndrome is an idiopathic condition that may manifest antenatally, characterized by a spectrum of symptoms including maternal polyhydramnios, prematurity, polyuria, hypercalciuria, nephrocalcinosis, normomagnesemia, vomiting, growth retardation, and elevated renal synthesis and urinary excretion of prostaglandins. Herein, we present a case of a 36-year-old Caucasian woman (Gravida 1, Para 0) diagnosed with extensive hydramnios at the 27th week of gestation. A decision for decompressive amniocentesis was made, and the amniotic fluid was sent for biochemical testing. The biochemical results from the amniotic fluid were compatible with Bartter syndrome, and the sample was further processed for genetic testing. A week later, the hydramnios reoccurred, and a decision for a second decompression amniocentesis was made. Twelve hours following the procedure, premature membrane rupture occurred, and a female fetus weighing 925 g was delivered via an emergency cesarean section for breech presentation. In conclusion, when a case is diagnosed with idiopathic polyhydramnios, investigating underlying genetic or renal syndromes such as Bartter syndrome using comprehensive diagnostic protocols is essential.
巴特综合征是一种特发性疾病，可在产前出现，其特征包括一系列症状，如母体羊水过多、早产、多尿、高钙尿症、肾钙质沉着症、正常血镁、呕吐、生长发育迟缓以及肾脏前列腺素合成和尿排泄增加。在此，我们报告一例36岁的白种女性（孕1产0），在妊娠27周时被诊断为羊水过多。决定进行减压羊膜腔穿刺术，并将羊水送去进行生化检测。羊水的生化结果与巴特综合征相符，样本进一步进行基因检测。一周后，羊水过多再次出现，决定进行第二次减压羊膜腔穿刺术。术后12小时，胎膜早破，因臀位经紧急剖宫产分娩出一名体重925克的女婴。总之，当诊断出特发性羊水过多病例时，使用综合诊断方案调查潜在的遗传或肾脏综合征，如巴特综合征至关重要。
