A Novel Mutation in Cystic Fibrosis Presenting as Pseudo Bartter Syndrome: A Case Report.

IF 1.5 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Indian Journal of Clinical Biochemistry Pub Date : 2023-10-01 Epub Date: 2021-10-07 DOI:10.1007/s12291-021-01010-y

Seema Shah, Sunil Jondhale, Manas Ranjan Sahoo, Tushar Jagzape, Swasti Keshri, Anil Kumar Goel

引用次数: 0

Abstract

Pseudo-Bartter's (PB) syndrome is characterized by hypokalemic metabolic alkalosis and failure to thrive which constitutes a rare but typical presentation of cystic fibrosis (CF) in children. The most common mutation of CF is F508del, due to loss of 3 base pairs, causing deletion of phenylalanine, at position 508. We present a case of CF presenting with failure to thrive, dehydration, PB syndrome associated with urosepsis and primo-colonization with Escherichia coli suggesting the role of epigenetic factors. The heterozygous state for Phe508del mutation in Exon 11 combination with Glu92Ala in Exon 4 resulted in epigenetic effect on atypical phenotype as PBS, a novel mutation identified in our case.

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以假性Barter综合征表现的囊性纤维化的一个新突变：一例报告。

假性巴特综合征的特点是低钾代谢性碱中毒和发育不良，这是儿童囊性纤维化（CF）的一种罕见但典型的表现。CF最常见的突变是F508del，由于失去了3个碱基对，导致508位的苯丙氨酸缺失。我们报告了一例CF，表现为发育不良、脱水、与尿脓毒症相关的PB综合征和大肠杆菌的初殖，提示表观遗传因素的作用。外显子11中Phe508del突变与外显子4中Glu92Ala组合的杂合状态导致对非典型表型PBS的表观遗传效应，这是在我们的病例中发现的一种新突变。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Indian Journal of Clinical Biochemistry BIOCHEMISTRY & MOLECULAR BIOLOGY-

CiteScore

4.50

自引率

4.80%

发文量

期刊介绍： The primary mission of the journal is to promote improvement in the health and well-being of community through the development and practice of clinical biochemistry and dissemination of knowledge and recent advances in this discipline among professionals, diagnostics industry, government and non-government organizations. Indian Journal of Clinical Biochemistry (IJCB) publishes peer reviewed articles that contribute to the existing knowledge in all fields of Clinical biochemistry, either experimental or theoretical, particularly deal with the applications of biochemistry, molecular biology, genetics, biotechnology, and immunology to the diagnosis, treatment, monitoring and prevention of human diseases. The articles published also include those covering the analytical and molecular diagnostic techniques, instrumentation, data processing, quality assurance and accreditation aspects of the clinical investigations in which chemistry has played a major role, or laboratory animal studies with biochemical and clinical relevance.