摘要
目的报道2例通过基因诊断确诊的囊性纤维化患儿的临床表现及基因突变特点。方法针对经CFTR基因突变分析明确诊断的2例囊性纤维化患儿，回顾性分析、总结其临床资料。结果例l女，13岁8个月，主因“反复发热、咳嗽6月余，咯痰2个月，咯血20d”入院，患儿生后3个月行“肺大泡切除术”，平素易患上呼吸道感染，无反复咳喘病史。其父患肺气肿。烟曲霉菌特异性IgE：3级；烟曲霉菌特异性IgG升高。痰培养提示绿脓杆菌。汗液试验：钠离子高于正常。肺CT示双肺支气管扩张。鼻窦CT示双侧上颌窦内软组织性密度影，双侧慢性鼻窦炎。纤毛电镜结果排除纤毛不动综合征。CFTR基因突变分析结果：杂合突变（263T〉G，2909G〉A）。父母均为携带者。经长期3％氯化钠雾化吸入、体位引流等治疗，随访1年余，病情明显好转。例2女，10岁，主因“反复咳痰3年、气促半年”入院。既往有鼻窦炎及脂肪泻病史。家族史无特殊。血清脂肪酶及胰岛素低于正常。痰细菌培养提示绿脓杆菌。烟曲霉菌特异性IgE正常。肺CT提示细支气管炎改变及支气管扩张。鼻窦CT提示双侧上颌窦炎。CFTR基因突变分析结果：纯合突变（3196C〉T）。患儿出院3个月后最终死于呼吸衰竭。结论囊性纤维化系CFTR突变所致，可发生于中国人，可有不同表现，本组2例均有支气管扩张、鼻窦炎，其中1例伴有胰腺损害，2例患儿最终均经基因检测确诊，其中1例为杂合突变（263T〉G及2909G〉A），1例为纯合突变（3196C〉T）。
Objective Cystic fibrosis （CF） is rare in Chinese mainland. We present two cases of CF patients diagnosed by gene analysis. Their clinical manifestations and genetic mutation features are analyzed in this article. It will be of special interest to pediatricians in recognition of CF. Method The clinical material of two CF patients who were diagnosed by gene analysis was retrospectively analyzed. Result The first patient is a 13-year-old girl. She had a complaint of recurrent fever and cough for 6 months, expectoration for 2 months and hemoptysis for 20 days. After 3 months of her birth, she was operated on for bullae of lung. She was susceptible to upper respiratory tract infection. There was no family history of recurrent wheeze and other special diseases. Aspergillus fumigatus specific IgE was at grade 3 and aspergillus fumigatus IgG was high. Pseudomonas aeruginosa was positive in sputum culture. Sweat testing was performed and Na ＋ was higher. Pulmonary CT indicated bronchiectasis. Nasal sinus CT showed optical density of soft tissue within maxillary sinus and chronic bilateral sinusitis. The electron microscopy of cilia suggested immobile cilia syndrome. A heterozygotic mutation （263T 〉 G,2909G 〉 A） was found after CFTR genetic mutation analysis. Both her parents were carriers. She was treated with inhalation of nebulized hypertonic saline and postural drainage for a long time. And she got better during a follow up period of 1 year. The second patient was a 10-year-old girl who complained of recurrent expectoration for 3 years and shortness of breath for half a year. She had a history of sinusitis and steatorrhea. The family history was normal. Both the lipase and insulin level in blood serum was lower. Pseudomonas aerugino and Asnergillus fumigatus were both positive in sputum culture. Aspergillus fumigatus IgE was normal. Pulmonary CT indicated bronchiolitis and bronchiectasis. Nasal sinus CT showed bilateral maxillary sinusitis. CFTR genetic mutation analysis revealed a homozygous mutation （3196C 〉 T ）. Her parents and relatives did not participate in this study. Unfortunately, this child died of respiratory failure 3 months after discharge. Conclusion CFTR gene mutation was a main cause of CF. Common symptoms are those of bronchiectasis, pancreatitis and sinusitis. The two Chinese patients were diagnosed by gene analysis. One had a heterozygous mutation（263T 〉 G,2909G 〉 A） and the other had a homozygous mutation （3196C 〉 T）, △F508 which is common in western countries.
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2012年第11期829-833,共5页
Chinese Journal of Pediatrics
