Moon H R, Ko T S, Ko Y Y, Choi J H, Kim Y C
Department of Pediatrics, College of Medicine, Seoul National University, Korea.
J Korean Med Sci. 1988 Dec;3(4):157-62. doi: 10.3346/jkms.1988.3.4.157.
The aim of this case report is to draw the attention to the occurrence of cystic fibrosis (C.F.) in a Korean infant and thus increase the awareness for the diagnosis. The male infant was presented with a history of recurrent bronchiolitis manifested by severe cough, wheeze and dyspnea from three weeks of age, in whom the diagnosis of C.F. was clinically suspected and was confirmed by demonstration of two elevated sweat chloride levels (97 mEq/L and 99 mEq/L) in the patient. The diagnosis was delayed because the main manifestations of C.F. were the same as the main symptoms of common diseases such as cough, diarrhea and failure to thrive. C.F. is probably underdiagnosed in Korean population both because the diagnosis is not considered since the disease is thought to be uncommon or even not to occur and because diagnostic facilities including the quantitative iontophoresis sweat test are lacking.
本病例报告的目的是引起对一名韩国婴儿患囊性纤维化（C.F.）情况的关注，从而提高对其诊断的认识。该男婴自三周龄起就有反复毛细支气管炎病史，表现为严重咳嗽、喘息和呼吸困难，临床上怀疑其患有C.F.，并通过检测到患者汗液氯化物水平两次升高（分别为97毫当量/升和99毫当量/升）得以确诊。诊断出现延迟是因为C.F.的主要表现与咳嗽、腹泻和发育不良等常见疾病的主要症状相同。在韩国人群中，C.F.可能未得到充分诊断，一方面是因为认为该疾病不常见甚至不会发生而未考虑进行诊断，另一方面是缺乏包括定量离子电渗汗液试验在内的诊断设施。
