Vergine Gianluca, Fressola Giulia, Ambroni Maura, Gessaroli Monica, Bigucci Barbara, Mazzocco Martina, Conte Maria Luisa
UOC Pediatria, Ospedale Infermi, Rimini, ASL Romagna.
Scuola di Specializzazione in Pediatria, Università degli Studi di Ferrara.
G Ital Nefrol. 2024 Jun 28;41(3):2024-vol3. doi: 10.69097/41-03-2024-05.
Cystic fibrosis is a multisystem disease with extremely variable onset, symptoms and course. One of the onset modality but also a complication of the disease is the pseudo-Bartter syndrome, characterized by hyponatremia, hypochloremic dehydration and metabolic alkalosis in absence of any renal disease. This syndrome occurs more frequently in the first year of life and has a peak in the summer. In this article, we describe two cases of cystic fibrosis associated with pseudo-Bartter syndrome in childhood. Excluding every possible cause of metabolic alkalosis associated with hyponatremia was crucial for our diagnostic pathway, and the experience gained with the first case helped a lot with the second one.
囊性纤维化是一种多系统疾病,起病、症状和病程差异极大。假性巴特综合征是该病的一种起病方式,也是其并发症之一,其特征为低钠血症、低氯性脱水和代谢性碱中毒,且无任何肾脏疾病。该综合征在生命的第一年更为常见,在夏季达到高峰。在本文中,我们描述了两例儿童期囊性纤维化合并假性巴特综合征的病例。排除与低钠血症相关的代谢性碱中毒的每一个可能原因对我们的诊断路径至关重要,第一例病例积累的经验对第二例病例帮助很大。