罗杰斯综合征或硫胺素反应性巨幼红细胞贫血症的极罕见病例。

IF 0.8 4区医学 Q4 PATHOLOGY

Indian Journal of Pathology and Microbiology Pub Date : 2023-09-05 DOI:10.4103/ijpm.ijpm_287_23

Gurpreet Kaur, Ankur Ahuja, Arijit Sen, Paresh Singhal, Renjith Verghese

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引用次数: 0

摘要

摘要：罗杰斯综合征是一种极其罕见的常染色体隐性遗传综合征，全世界已知的病例只有 100 例。其特征为硫胺素反应性巨幼红细胞贫血、糖尿病和感音神经性耳聋。它是由硫胺素转运蛋白缺乏引起的。我们在此报告一名转诊到本中心的 16 岁印度男性，主诉为难治性贫血、耳聋、糖尿病肺动脉高压和三尖瓣反流。根据其临床特征和血液学表现，以及贫血对硫胺素治疗的显著反应，考虑到了 TRMA 的可能性。对 TRMA 的测序分析表明，SLC19A2 基因发生了同源 c.242dup (p.Tyr81Ter) 突变。

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An extremely rare case of Rogers syndrome or thiamine responsive megaloblastic anemia.

Abstract: Rogers syndrome is an extremely rare autosomal recessive syndrome of which only 100 cases are known worldwide. It is characterized by thiamine-responsive megaloblastic anaemia, diabetes mellitus and sensorineural deafness. It results from the deficiency of a thiamine transporter protein. We herein report a 16-year-old Indian male referred to our centre with complaints of refractory anaemia, deafness, diabetes pulmonary arterial hypertension and tricuspid regurgitation. Based on the clinical features and haematologic picture and dramatic response of anaemia to thiamine therapy the possibility of a TRMA was considered. Sequencing analysis for TRMA revealed a homozygous c.242dup (p.Tyr81Ter) mutation of the SLC19A2 gene.

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来源期刊

Indian Journal of Pathology and Microbiology PATHOLOGY-

CiteScore

1.20

自引率

0.00%

发文量

422

审稿时长

1 months

期刊介绍： The journal will cover studies related to pathology including morbid anatomy, surgical pathology, clinical pathology, diagnostic cytopathology including gynecologic cytology and aspiration cytology, hematology including immuno-hematology and medical microbiology. The journal gives preference to clinically oriented studies over experimental and animal studies. The Journal would publish peer-reviewed original research papers, case reports, systematic reviews, meta-analysis, letters to the editor and brief communications. Review articles on current topics usually are invited by the editor.