Chandane Parmarth, Chauhan Avantika, Bhosale Alpa, Balaji Mounnish, Parekh Nidhi
Department of Pediatrics, Bai Jerabai Wadia Hospital for Children, Mumbai, Maharashtra, India.
Department of Pediatric Pulmonology, Bai Jerabai Wadia Hospital for Children, Mumbai, Maharashtra, India.
Lung India. 2025 Mar 1;42(2):103-108. doi: 10.4103/lungindia.lungindia_404_24. Epub 2025 Feb 27.
Cystic fibrosis (CF) is a genetic disorder caused by genetic variant in the cystic fibrosis transmembrane regulator (CFTR) gene that affects around 89,000 people worldwide. Loss of the CFTR chloride channel due to pathogenic variants in the CFTR gene causes obstruction in the exocrine pancreas gland and reduced lung function.
To determine the genotype and phenotype of patients with CF from western India.
This was a single-center retrospective cross-sectional study conducted in a tertiary care super speciality paediatric hospital of Mumbai, India, comprising patients aged 0 to 18 years visiting a paediatric pulmonology clinic with suspected or confirmed diagnosis of CF.
The mean (SD) age of onset of symptoms was 6.8 (10.2) months and the mean (SD) age at diagnosis was 32.5 (50.5) months. The two most common genetic variants found in our patients were c. 1521_1523delCTT (F508del) (n = 21) and c.1367T>C (V456A) (n = 10). There were nine novel genetic variants identified that have not been reported so far. The mean (SD) age of onset of symptoms was 6.8 (10.2) months and mean (SD) age at diagnosis was 32.5 (50.5) months. The most common presenting features were recurrent respiratory infections (83%), malabsorption (79%), and failure to thrive (79%). Sweat chloride testing was conducted to establish the CFTR gene dysfunction and was positive in 79% (46/58) of patients and intermediate in 15% (n = 9/58) of patients. The two most common genetic variants found in our group of patients were c. 1521_1523delCTT (F508del) (n = 21) and c.1367T>C (V456A) (n = 10). There were nine novel genetic variants identified that have not been reported so far.
This study adds to the knowledge of genetic diversity in the pathogenic CFTR gene variants causing CF and highlights the importance of sequencing the entire CFTR gene as regional variations in the gene have been documented in India.
囊性纤维化（CF）是一种由囊性纤维化跨膜传导调节因子（CFTR）基因的遗传变异引起的遗传性疾病，全球约有89,000人受其影响。CFTR基因中的致病性变异导致CFTR氯离子通道功能丧失，从而引起外分泌胰腺阻塞和肺功能下降。
确定印度西部CF患者的基因型和表型。
这是一项在印度孟买一家三级护理超级专科医院进行的单中心回顾性横断面研究，研究对象为0至18岁疑似或确诊为CF的儿科肺病门诊患者。
症状出现的平均（标准差）年龄为6.8（10.2）个月，诊断时的平均（标准差）年龄为32.5（50.5）个月。在我们的患者中发现的两个最常见的遗传变异是c.1521_1523delCTT（F508del）（n = 21）和c.1367T>C（V456A）（n = 10）。鉴定出九个迄今尚未报道的新遗传变异。症状出现的平均（标准差）年龄为6.8（10.2）个月，诊断时的平均（标准差）年龄为32.5（50.5）个月。最常见的临床表现为反复呼吸道感染（83%）、吸收不良（79%）和生长发育迟缓（79%）。进行了汗液氯化物检测以确定CFTR基因功能障碍，79%（46/58）的患者检测结果为阳性，15%（n = 9/58）的患者检测结果为中间值。在我们的患者组中发现的两个最常见的遗传变异是c.1521_1523delCTT（F508del）（n = 21）和c.1367T>C（V456A）（n = 10）。鉴定出九个迄今尚未报道的新遗传变异。
本研究增加了对导致CF的致病性CFTR基因变异的遗传多样性的认识，并强调了对整个CFTR基因进行测序的重要性，因为印度已记录了该基因的区域差异。
