囊性纤维化家庭病例

D. A. Sharafutdinova, R. F. Gatiyatullin, D. S. Valeeva, E. Bogomolova, R. Gafurova, L. E. Burangulova, E. R. Magafurova
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摘要

囊性纤维化是一种常染色体隐性遗传的单基因疾病,由位于第 7 号染色体长臂(7q31.2)上的囊性纤维化跨膜传导调节器(CFTR)基因突变引起。该基因突变导致钠离子和氯离子在细胞间液和外分泌腺排泄管上皮细胞之间的转运发生障碍。本文介绍了一个囊性纤维化家族病例,该病例涉及两名自出生以来一直接受观察的患者,她们是姐妹(患者 A - 4 岁 10 个月,患者 B - 1 岁 11 个月)。在对这两名患者进行新生儿筛查和囊性纤维化序列诊断时,发现了 DF508/CFTRdele2.3(21kb)突变,该突变在俄罗斯联邦的高加索人群中最为普遍。治疗这两名患者的首要任务是纠正营养状况,尽量减少慢性支气管肺部炎症的加重。为了确定这些患者的治疗策略,我们与囊性纤维化专家、MGSC 研究所教授 E.I. Kondratyeva 博士进行了磋商,她是囊性纤维化科学与临床部和呼吸系统疾病遗传学部主任、欧洲囊性纤维化学会诊断与登记委员会专家、莫斯科州卫生部儿童临床研究所科研工作副主任。本临床病例的特殊性在于,在一个家庭中,两个患有严重疾病的女孩相隔 3 年才出生。这两个女孩都得到了早期诊断,从而减缓了病情的发展。
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Family case of cystic fibrosis
Cystic fibrosis is an autosomal recessively inherited monogenic disease caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, located on the long arm of chromosome 7 (7q31.2). This mutation results in a disruption in the transport of sodium and chloride ions between intercellular fluid and the epithelial cells of the excretory ducts of the exocrine glands. This paper presents the description of a family case of cystic fibrosis involving two patients who have been under observation since birth and are sisters (patient A – 4 years 10 months, patient B – 1 year 11 months). In both patients, neonatal screening and sequential diagnosis of cystic fibrosis identified the DF508/CFTRdele2.3(21kb) mutation, the most prevalent among the Caucasian population in the Russian Federation. The primary concern in managing both patients is the correction of nutritional status and minimization of exacerbations of chronic bronchopulmonary inflammation. To determine the management strategy for these patients, a consultation was held with Dr. E.I. Kondratyeva, a leading cystic fibrosis expert and professor at the MGSC Institute, who serves as the head of the Scientific and Clinical Department of Cystic Fibrosis and the Department of Genetics of Respiratory System Diseases, an expert of the European Society for Cystic Fibrosis Committee on Diagnostics and Registry, and Deputy Chief for Scientific Work of Research Clinical Institute of Childhood of the Ministry of Health of the Moscow Region. The peculiarity of the presented clinical cases lies in the fact that within one family, with an interval of 3 years, two girls with severe disease were born. Early diagnosis was performed for both, which has allowed for the slowing down of the pathology's progression.
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