Division of Medical Genetics, Department of Molecular Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy; Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.
Department of Obstetrics and Gynecology, S. Eugenio Hospital, Rome, Italy.
Arch Pediatr. 2022 Oct;29(7):530-533. doi: 10.1016/j.arcped.2022.08.011. Epub 2022 Sep 1.
Bartter syndrome (BS) refers to a group of hereditary kidney disorders. One antenatal form is Bartter syndrome type 1 (BS1), caused by pathogenic variants in the SLC12A1 gene. We report a case of BS1 presenting with severe polyhydramnios. The fetus was found to carry three pathogenic variants of SLC12A1, leading to the antenatal diagnosis of BS1 and its prompt management. At age 18 days, clinical conditions were complicated by the onset of sepsis requiring supportive measures as well as steroid and antibiotic therapy. Any newborn with an antenatal history of polyhydramnios or postnatal polyuria should be suspected of having BS, since delayed diagnosis may lead to rapid renal failure.
巴特综合征（BS）是一组遗传性肾脏疾病。一种产前形式是巴特综合征 1 型（BS1），由 SLC12A1 基因突变引起。我们报告了一例表现为严重羊水过多的 BS1 病例。该胎儿携带 SLC12A1 的三种致病性变异，导致产前诊断为 BS1，并进行了及时的管理。在 18 天时，临床情况因败血症发作而变得复杂，需要支持性措施以及类固醇和抗生素治疗。任何有产前羊水过多或产后多尿病史的新生儿都应怀疑患有 BS，因为延迟诊断可能导致快速肾衰竭。
