Huang Ting, Li Caihong, Liu Daishun
The Third Affiliated Hospital of Zunyi Medical College, Zunyi, China.
Glob Pediatr Health. 2019 Apr 4;6:2333794X19833725. doi: 10.1177/2333794X19833725. eCollection 2019.
. Most cases of cystic fibrosis occur in Europe, with only a few occurring in Asia. Pulmonary cystic fibrosis is not a rare disease, but in children it is a potentially life-threatening condition. Children suffering from pulmonary cystic fibrosis rarely survive to adulthood, and responses to treatment are generally poor. The most common cause of cystic fibrosis is a genetic mutation on chromosome 7. A 15-year-old boy with healthy parents suffered from a recurrent cough and expectoration for nearly 10 years. Six years previously, a definitive diagnosis of pulmonary cystic fibrosis and hepatic cirrhosis was made at the Beijing Children's Hospital. The first occurrence of hematemesis occurred 1 year ago. The main symptoms, which caused this period of hospitalization, were cough, expectoration, and hematemesis. The underlying cause was finally determined to be the cystic fibrosis transmembrane conductance regulator gene (p.G970D). After genetic and sweat testing performed at the Beijing Children's Hospital in 2012, a definitive diagnosis of cystic fibrosis was made. The patient was administered hemostatic treatment, antibiotics, and cough relief and sputum reduction therapy. The patient's condition rapidly improved and continued to remain stable, though future relapse is possible following respiratory tract infections. This case indicates that in the case of any child that presents a recurrent cryptogenic cough and expectoration, whether accompanied by hematemesis or not, pulmonary cystic fibrosis should be considered. In order to determine underlying causes and prepare for cystic fibrosis transmembrane conductance regulator modulator therapy, genetic and sweat testing are recommended to be conducted if available.
大多数囊性纤维化病例发生在欧洲,亚洲仅有少数病例。肺囊性纤维化并非罕见疾病,但在儿童中却是一种潜在的危及生命的病症。患有肺囊性纤维化的儿童很少能活到成年,且治疗反应通常较差。囊性纤维化最常见的病因是7号染色体上的基因突变。一名父母健康的15岁男孩反复咳嗽、咳痰近10年。6年前,在北京儿童医院确诊为肺囊性纤维化和肝硬化。1年前首次出现呕血。导致此次住院的主要症状为咳嗽、咳痰和呕血。最终确定潜在病因是囊性纤维化跨膜传导调节基因(p.G970D)。2012年在北京儿童医院进行基因和汗液检测后,确诊为囊性纤维化。给予患者止血治疗、抗生素治疗以及止咳化痰治疗。患者病情迅速好转并持续保持稳定,不过呼吸道感染后未来仍有可能复发。该病例表明,对于任何出现反复不明原因咳嗽、咳痰的儿童,无论是否伴有呕血,均应考虑肺囊性纤维化。为明确潜在病因并为囊性纤维化跨膜传导调节因子调节剂治疗做准备,如有条件建议进行基因和汗液检测。