University Hospital Leuven, Herestraat 49, 3001, Leuven, Belgium.
University Hospital Saint-Luc, Avenue Hippocrate 10, 1200, Brussels, Belgium.
BMC Pediatr. 2022 May 3;22(1):247. doi: 10.1186/s12887-022-03290-6.
This case report describes a child born with both cystic fibrosis (CF) and alpha-1 antitrypsin deficiency (A1ATD). Both are autosomal recessive inherited diseases, mainly affecting the lungs and the liver. The combination of both diseases together is rare and may lead to a fulminant disease with limited life span. To the best of our knowledge, no case has been reported of a patient born with both diseases.
After an uneventful pregnancy, a male baby was born with meconium ileus. The suspected diagnosis of CF was confirmed based on the sweat test and genetic analysis. The child developed persisting cholestasis, too severe to be likely caused by CF alone and indicating an associated problem. The diagnosis of A1ATD was established based on clinical suspicion (persisting cholestasis), decreased serum alpha-1 antitrypsin and genetic analysis. Supportive therapy was started, however the boy evolved to rapidly progressive liver disease leading to liver failure which necessitated an infant liver transplantation.
This case illustrates the complexity of care in case of two severe inherited diseases as well as post solid organ transplant care.
本病例报告描述了一名同时患有囊性纤维化（CF）和α-1 抗胰蛋白酶缺乏症（A1ATD）的患儿。这两种疾病均为常染色体隐性遗传性疾病，主要影响肺部和肝脏。两种疾病同时存在的情况较为罕见，可能导致病情迅速恶化，患儿寿命有限。据我们所知，目前尚无同时患有这两种疾病的患儿病例报告。
经过一次无并发症的妊娠，一名男婴出生时患有先天性肠闭锁。根据汗液测试和基因分析，疑似 CF 诊断得到确认。患儿出现持续性胆汁淤积，单凭 CF 不太可能导致如此严重的情况，提示存在其他相关问题。基于临床怀疑（持续性胆汁淤积）、血清α-1 抗胰蛋白酶降低和基因分析，诊断为 A1ATD。开始了支持性治疗，但该男孩病情迅速进展为肝衰竭，需要进行婴儿肝移植。
本例说明了在两种严重遗传性疾病的情况下以及实体器官移植后的治疗护理的复杂性。
