囊性纤维化并假性Bartter综合征研究进展

Research progress of cystic fibrosis associated Pseudo-Bartter syndrome

囊性纤维化(CF)是一种可累及全身多系统的常染色体隐性遗传病。假性Bartter综合征(PBS)是CF的常见并发症,以低氯血症、低钠血症、低钾血症及代谢性碱中毒为临床特征,但未合并肾小管病变。由于体液及电解质的丢失,CF患儿易存在电解质紊乱。现就CF并PBS的发病机制、临床特点、诊断与治疗进行综述,以提高临床医师对该病的认识。

Cystic fibrosis(CF)is an autosomal recessive inherited disease affecting multiple body systems.Pseudo-Bartter syndrome(PBS)is a common manifestation of CF,with such clinical features as hypochloremia,hyponatremia,hypokalemia and metabolic alkalosis.However,PBS patients do not have renal tubulopathy.Children with CF are prone to develop electrolyte abnormalities due to fluid and electrolyte loss.In this article,the pathogenesis,clinical manifestations,diagnosis,and treatment of CF associated PBS were reviewed in order to enhance clinical understan-ding of this disease.