PDF(Pubmed)
Abstract：
Cystic fibrosis (CF) is a multiorgan disease, caused by autosomal recessive (AR) mutations in the cystic fibrosis transmembrane regulator (CFTR) acting primarily as a chloride channel. CF is most commonly diagnosed in Caucasian populations. Common clinical presentations in pediatric patients include chronic cough, respiratory tract infections such as pneumonia, digestive symptoms, and stunted growth, and malnutrition due to gastrointestinal malabsorption and pancreatic insufficiency. Excessive sweat sodium chloride losses due to dysfunctional sweat glands in CFTR result in volume contraction and secondary hyperaldosteronism leading to renal potassium losses and metabolic alkalosis. Hypokalemic hypochloremic metabolic alkalosis is a known but uncommon presenting sign of the disease, documented as pseudo Bartter syndrome. Common mutations in the CFTR gene are now included in prenatal genetic screening programs. We describe the case of an infant of African descent with normal prenatal screening who presented with severe hypokalemic hypochloremic metabolic alkalosis and was diagnosed with CF with further genetic confirmation of the diagnosis.
摘要：
囊性纤维化（CF）是一种多器官疾病，由囊性纤维化跨膜调节因子（CFTR）中的常染色体隐性遗传（AR）突变引起，主要充当氯通道。CF最常见于高加索人群。儿科患者常见的临床表现包括慢性咳嗽，呼吸道感染，如肺炎，消化症状,发育迟缓，和营养不良由于胃肠道吸收不良和胰腺功能不全。由于CFTR中功能失调的汗腺引起的过多的汗液氯化钠损失导致体积收缩和继发性醛固酮增多症,导致肾钾损失和代谢性碱中毒。低钾血症性低氯血症代谢性碱中毒是一种已知但不常见的疾病表现，记录为假性Bartter综合征。CFTR基因中的常见突变现在包括在产前遗传筛查程序中。我们描述了一名非洲裔婴儿的产前筛查正常的病例，该婴儿患有严重的低钾性低氯血症代谢性碱中毒，并被诊断为CF，并进一步遗传证实了诊断。
