[Clinical and gene mutation features of cystic fibrosis: an analysis of 8 cases].

To study the clinical features and gene mutation sites of children with cystic fibrosis (CF), in order to improve the understanding of CF to reduce misdiagnosis and missed diagnosis.A retrospective analysis was performed on the medical records of 8 children with CF who were diagnosed in Hebei Children's Hospital from 2018 to 2021.Among the 8 children with CF, there were 5 boys and 3 girls, with an age of 3-48 months (median 8 months) at diagnosis, and the age of onset ranged from 0 to 24 months (median 2.5 months). Clinical manifestations included recurrent respiratory infection in 7 children, sinusitis in 3 children, bronchiectasis in 4 children, diarrhea in 8 children, fatty diarrhea in 3 children, suspected pancreatic insufficiency in 6 children, pancreatic cystic fibrosis in 1 child, malnutrition in 5 children, and pseudo-Bartter syndrome in 4 children. The most common respiratory pathogens were Pseudomonas aeruginosa (4 children). A total of 16 mutation sites were identified by high-throughput sequencing, multiplex ligation-dependent probe amplification, and Sanger sequencing, including 5 frameshift mutations, 4 nonsense mutations, 4 missense mutations, 2 exon deletions, and 1 splice mutation. CFTR mutations were found in all 8 children. p.G970D was the most common mutation (3 children), and F508del mutation was observed in one child. Four novel mutations were noted: deletion exon15, c.3796_3797dupGA(p.I1267Kfs*12), c.2328dupA(p.V777Sfs*2), and c.2950G>A(p.D984N).p.G970D is the most common mutation type in children with CF. CF should be considered for children who have recurrent respiratory infection or test positive for Pseudomonas aeruginosa, with or without digestive manifestations or pseudo-Bartter syndrome.目的: 总结分析囊性纤维化（cystic fibrosis，CF）患儿的临床及基因突变位点，以提高对CF的认识，减少误诊、漏诊。方法: 回顾性分析河北省儿童医院2018~2021年确诊的8例CF患儿的病历资料。结果: 8例患儿（男5例，女3例），诊断年龄为3~48个月（中位年龄8个月），发病年龄为0~24个月（中位年龄2.5个月）。临床表现为反复呼吸道感染7例，鼻窦炎3例，支气管扩张4例，腹泻8例，脂肪泻3例，可疑胰腺功能不全6例，胰腺CF 1例，营养不良5例，假性Bartter综合征4例。最常见的呼吸道病原为铜绿假单胞菌（4例）。经高通量测序、多重连接探针扩增技术和Sanger测序验证共发现16个变异位点，包括移码突变5个，无义突变4个，错义突变4个，外显子缺失2个，剪接突变1个。8例患儿均检出CFTR基因突变。最常见的基因突变类型是p.G970D（3例），观察到1例F508del基因突变。检出4个新发现的变异：deletion exon15、c.3796_3797dupGA(p.I1267Kfs*12)、c.2328dupA(p.V777Sfs*2)、c.2950G>A(p.D984N)。结论: p.G970D为CF患儿最常见的突变类型。对于临床上反复呼吸道感染，合并或不合并消化系统表现和假性Bartter综合征，以及呼吸道病原学检测示铜绿假单胞菌阳性的患儿，需警惕CF。.