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一名青春期女孩患特发性自身免疫性溶血性贫血并伴有维生素B12缺乏:罕见病例。

Idiopathic autoimmune hemolytic anemia along with concomitant vitamin B12 deficiency in an adolescent girl: A rare occurrence.

作者信息

Bhalla Kapil, Verma Nisha, Nanda Sanjiv, Gupta Ashish, Mehra Shuchi

机构信息

Department of Paediatrics, Pt BD Sharma PGIMS, Rohtak, Haryana, India.

Department of Cardiology, Pt BD Sharma PGIMS, Rohtak, Haryana, India.

出版信息

J Family Med Prim Care. 2020 Jul 30;9(7):3756-3758. doi: 10.4103/jfmpc.jfmpc_401_20. eCollection 2020 Jul.

DOI:10.4103/jfmpc.jfmpc_401_20
PMID:33102365
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7567204/
Abstract

Vitamin B12 deficiency is seen in countries like India mainly because of predominantly vegetarian diet and is a significant health problem. Patients present with various neurological and hematological manifestations of megaloblastic anemia. In this case report, we present a 14-year-old girl child having a history of past blood transfusions and iron deficiency anemia currently presenting with severe anemia due to idiopathic autoimmune hemolytic anemia (AIHA) and later found to have concomitant vitamin B12 deficiency. On investigating, she had vitamin B12 deficiency, raised homocysteine and methylmalonic acid levels, positive Direct Coombs Test (DCT), and negative glucose-6-phoshphatase deficiency and osmotic fragility tests. Thyroid profile and tissue transglutaminase IgA (tTg-IgA) tests were negative. Antinuclear antibodies (ANA) and anti-double stranded DNA antibody (anti-dsDNA) serum immunoglobulin were also normal. Bone marrow showed megaloblastic anemia picture. Although AIHA and vitamin B12 deficiency anemia are not common, clinicians should have a high index of suspicion when patients present with hemolytic picture and severe megaloblastic anemia.

摘要

维生素B12缺乏在印度等国家较为常见,主要原因是饮食习惯以素食为主,这是一个严重的健康问题。患者会出现巨幼细胞贫血的各种神经和血液学表现。在本病例报告中,我们介绍了一名14岁女童,有输血史和缺铁性贫血病史,目前因特发性自身免疫性溶血性贫血(AIHA)出现严重贫血,后来发现同时伴有维生素B12缺乏。经检查,她存在维生素B12缺乏、同型半胱氨酸和甲基丙二酸水平升高、直接抗人球蛋白试验(DCT)阳性,葡萄糖-6-磷酸酶缺乏试验和渗透脆性试验阴性。甲状腺功能检查和组织转谷氨酰胺酶IgA(tTg-IgA)试验均为阴性。抗核抗体(ANA)和抗双链DNA抗体(抗dsDNA)血清免疫球蛋白也正常。骨髓显示为巨幼细胞贫血图像。虽然AIHA和维生素B12缺乏性贫血并不常见,但当患者出现溶血症状和严重巨幼细胞贫血时,临床医生应高度怀疑。

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Diagnosis and management of autoimmune hemolytic anemia in children.儿童自身免疫性溶血性贫血的诊断和治疗。
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Current hematological findings in cobalamin deficiency. A study of 201 consecutive patients with documented cobalamin deficiency.钴胺素缺乏症的当前血液学表现。对201例有记录的钴胺素缺乏症患者的研究。
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Autoimmune cytopenias in pernicious anemia: a report of four cases and review of the literature.恶性贫血中的自身免疫性血细胞减少症:4例报告及文献复习
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