CF-PBS与BS的发病机制的研究

囊性纤维化(CF)是一种常染色体隐性遗传疾病,由于囊性纤维化跨膜传导调节因子(CFTR)基因变异引起上皮细胞运输障碍而发生,因涉及多个器官系统,其临床表现多种多样。近年来发现假性Bartter综合征(PBS)常作为CF患儿早期临床表现。PBS是CF的常见并发症,指在没有肾小管病变的情况下表现为低钠低钾低氯性碱中毒。Bartter综合征(BS)是一种由Henle环粗大升支的盐重吸收缺陷引起的遗传性肾小管疾病。由于早期CF-PBS的临床表现与BS相似,易出现误诊。本综述重点就CF-PBS与BS的发病机制、临床表现、诊断治疗进行鉴别,旨在提高临床医师对两种疾病的诊治水平,减少误诊及漏诊。Cystic fibrosis (CF) is an autosomal recessive disorder that occurs as a result of impaired epithelial cell transport caused by a variant in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Because of the involvement of multiple organ systems, its clinical manifestations are diverse. In recent years, pseudo-Bartter syndrome (PBS) has been identified as an early clinical manifestation in children with CF. PBS is a common complication of CF and refers to the presentation of low-sodium, low-potassium, and low-chlorine alkalosis in the absence of renal tubular pathology. Bartter syndrome (BS) is an inherited renal tubular disease caused by a defect in salt reabsorption in the thick ascending branch of the loop of Henle. As the clinical manifestations of early CF-PBS are similar to those of BS, it is easy to be misdiagnosed. This review focuses on the differentiation of CF-PBS from BS in terms of pathogenesis, clinical manifestations, diagnosis and treatment, with the aim of improving clinicians’ diagnosis and treatment of the two diseases and reducing misdiagnosis and underdiagnosis.