p.Gly542*和c.2657+5G> a杂合子CFTR患儿胰功能不全1例

IF 1.2 Q2 MEDICINE, GENERAL & INTERNAL
Clinical Medicine & Research Pub Date : 2022-03-01 Epub Date: 2022-02-07 DOI:10.3121/cmr.2022.1618
Fernanda Dos Anjos, Jonatha Wruck, Thiago Inácio Teixeira do Carmo, Victor Emanuel Miranda Soares, Débora Tavares de Resende E Silva, Margarete Dulce Bagatini, Sarah Franco Vieira de Oliveira Maciel
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引用次数: 0

摘要

囊性纤维化是一种单基因常染色体隐性遗传病。它是由负责编码CFTR蛋白的囊性纤维化跨膜传导调节基因突变引起的。累及胃肠道和呼吸系统是主要的临床表现。在这种情况下,我们报告了一名杂合子CFTR患者携带I类(p.Gly542*)和V类(c.2657+5G> a)突变。该病例报告的重要性在于其临床特征,因为患者年龄为3岁,表现为早期外分泌胰腺功能不全,这可以被认为是不典型的,因为大多数具有该基因型的个体胰腺充足或在以后的生活中出现胰腺功能不全。本报告旨在介绍有助于患者诊断的测试,以及了解这些突变与其表型表现之间的关联。基因型-表型关系的解释是一个挑战,因为单独的遗传分析不足以明确预测疾病的严重程度。这是因为具有相同基因型的患者之间存在的显着表型异质性可能会产生社会经济和社会文化影响,或者通过CFTR修饰因子(如环境和修饰基因)的作用,改变蛋白质的功能并对个体的表型产生影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Pancreatic Insufficiency in a Child with p.Gly542* and c.2657+5G>A Heterozygote CFTR: A Case Report.

Cystic fibrosis is a monogenic and autosomal recessive disease. It is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator gene responsible for encoding the CFTR protein. Involvement of the gastrointestinal and respiratory systems is the main clinical manifestation. In this case, we report a heterozygous CFTR patient harboring class I (p.Gly542*) and class V (c.2657+5G>A) mutations. The importance of this case report lies in the clinical features because the patient, aged 3 years, presented with early exocrine pancreatic insufficiency, which can be considered atypical, as most individuals with this genotype are pancreatic sufficient or develop pancreatic insufficiency later in life. This report aims at presenting the tests requested that contributed to the patient's diagnosis, as well as at understanding the association between these mutations and their phenotypic presentation. Interpretation of the genotype-phenotype relationship represents a challenge, as genetic analysis alone is not sufficient to clearly predict severity of the disease. This is because the significant phenotypic heterogeneity existing among patients with the same genotype may exert socioeconomic and sociocultural influences, or by the action of CFTR modifiers, such as environmental and modifying genes, which can alter the protein's function and exert an impact on the individual's phenotype.

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来源期刊
Clinical Medicine & Research
Clinical Medicine & Research MEDICINE, GENERAL & INTERNAL-
CiteScore
1.80
自引率
7.10%
发文量
25
期刊介绍: Clinical Medicine & Research is a peer reviewed publication of original scientific medical research that is relevant to a broad audience of medical researchers and healthcare professionals. Articles are published quarterly in the following topics: -Medicine -Clinical Research -Evidence-based Medicine -Preventive Medicine -Translational Medicine -Rural Health -Case Reports -Epidemiology -Basic science -History of Medicine -The Art of Medicine -Non-Clinical Aspects of Medicine & Science
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