Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.
Indian J Pediatr. 2020 Sep;87(9):726-732. doi: 10.1007/s12098-020-03342-8. Epub 2020 Jun 5.
Cystic fibrosis (CF), an autosomal recessive disorder, occurs due to mutations in CFTR gene resulting in impaired cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel function in various epithelia. In addition to the well-known pulmonary and pancreatic morbidities, CF is characterized by electrolyte and acid-base abnormalities- hypochloremia, hyponatremia, hypokalemia and metabolic alkalosis. These are collectively known as Pseudo-Bartter syndrome, as similar abnormalities are seen in Bartter syndrome- an inherited tubulopathy affecting thick ascending limb of loop of Henle. There may be a significant clinical overlap between the Classic Bartter syndrome, Gitelman syndrome and CF presenting as Pseudo-Bartter syndrome, especially in early childhood. This review focuses on Pseudo-Bartter syndrome in CF, its pathogenesis and differentiation from Bartter/Gitelman syndrome. Other causes of metabolic abnormalities resembling Bartter syndrome are also highlighted.
囊性纤维化（CF）是一种常染色体隐性遗传病，由于 CFTR 基因突变导致各种上皮细胞中囊性纤维化跨膜电导调节因子（CFTR）氯离子通道功能受损而发生。除了众所周知的肺部和胰腺病变外，CF 的特征还包括电解质和酸碱平衡异常 - 低氯血症、低钠血症、低钾血症和代谢性碱中毒。这些统称为假性巴特综合征，因为在巴特综合征中也会出现类似的异常 - 一种遗传性肾小管病，影响亨利氏环升支粗段。经典巴特综合征、Gitelman 综合征和 CF 表现为假性巴特综合征时，可能会有显著的临床重叠，尤其是在儿童早期。本文综述了 CF 中的假性巴特综合征，其发病机制以及与巴特/吉特曼综合征的鉴别。还强调了其他类似于巴特综合征的代谢异常的原因。
