Shah Seema, Jondhale Sunil, Sahoo Manas Ranjan, Jagzape Tushar, Keshri Swasti, Goel Anil Kumar
Department of Biochemistry, All India Institute of Medical Sciences, Raipur, India.
Department of Pediatrics, All India Institute of Medical Sciences, Raipur, India.
Indian J Clin Biochem. 2023 Oct;38(4):550-552. doi: 10.1007/s12291-021-01010-y. Epub 2021 Oct 7.
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 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.
假性巴特综合征（PB）的特征为低钾血症性代谢性碱中毒和生长发育迟缓，这是儿童囊性纤维化（CF）一种罕见但典型的表现。CF最常见的突变是F508del，由于缺失3个碱基对，导致第508位苯丙氨酸缺失。我们报告一例CF患儿，表现为生长发育迟缓、脱水、伴有泌尿道感染的PB综合征及首次定植，提示表观遗传因素的作用。外显子11中Phe508del突变的杂合状态与外显子4中的Glu92Ala相结合，对非典型表型如PBS产生了表观遗传效应，这是我们病例中发现的一种新突变。
