由……中的一种新型纯合突变引起的产前巴特综合征
Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in .
作者信息
Acar Filiz Aktürk, Işik Güneş, Mutlu Mehmet, Kader Şebnem, Aslan Yakup, Kalyoncu Mukaddes
机构信息
Division of Neonatology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
Department of Pediatric Nephrology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
出版信息
Indian J Nephrol. 2019 Sep-Oct;29(5):360-363. doi: 10.4103/ijn.IJN_175_18.
Antenatal Bartter syndrome (BS) is an autosomal recessive hereditary renal tubular disorder caused by mutation in the () on chromosome 15q21.1. This syndrome is characterized by polyuria, hyponatremia, hypokalemic hypochloremic metabolic alkalosis, and hypercalciuria associated with increased urinary loss of electrolytes. Herein, we report a very low-birth-weight premature newborn with antenatal BS caused by a novel homozygous mutation in the , .
产前巴特综合征（BS）是一种常染色体隐性遗传性肾小管疾病，由15号染色体q21.1上的（）基因突变引起。该综合征的特征为多尿、低钠血症、低钾性低氯性代谢性碱中毒以及与电解质尿丢失增加相关的高钙尿症。在此，我们报告一例极低出生体重的早产新生儿，其患有由，中的一种新型纯合突变导致的产前BS。
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