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一名3岁坦桑尼亚女性，患有葡萄糖-6-磷酸脱氢酶A缺乏症及一种新型杂合PIEZO1突变（2744A>G，N915S），表现为严重溶血性贫血。

A 3-year-old Tanzanian Female with Glucose-6-Phosphate Dehydrogenase A- and a Novel Heterozygous PIEZO1 Mutation (2744A>G, N915S) Presenting with Severe Hemolytic Anemia.

作者信息

Fustino Nicholas John, Beck Raven

机构信息

Division of Pediatric Hematology-Oncology, Blank Children's Hospital/Unity Point Health, Des Moines, Iowa, USA.

Department of Pediatrics, Blank Children's Hospital/Unity Point Health, Des Moines, Iowa, USA.

出版信息

Ann Afr Med. 2024 Oct 1;23(4):743-747. doi: 10.4103/aam.aam_29_24. Epub 2024 Aug 13.

DOI:10.4103/aam.aam_29_24
PMID:39138932
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11556481/
Abstract

A 3-year-old Tanzanian female presented with severe hemolytic anemia of unknown etiology, necessitating multiple red blood cell transfusions. The patient was found to have glucose-6-phosphate dehydrogenase (G6PD) deficiency A- and a heterozygous Piezo-type mechanosensitive ion channel component 1 (PIEZO1) mutation (2744A>G, N915S). This case identifies a novel PIEZO1 mutation implicated in erythrocyte channelopathies occurring in conjunction with an X-linked enzymopathy in a female patient. This underscores the importance of keeping X-linked disorders in the differential diagnosis of hemolytic anemia in females, as well as presents the possibility for novel coexisting mutations to augment the phenotype.

摘要

一名3岁的坦桑尼亚女性因不明病因出现严重溶血性贫血，需要多次输注红细胞。该患者被发现患有葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症A型以及杂合的Piezo型机械敏感离子通道成分1（PIEZO1）突变（2744A>G，N915S）。该病例确定了一种与女性患者X连锁酶病同时发生的、与红细胞通道病相关的新型PIEZO1突变。这强调了在女性溶血性贫血的鉴别诊断中考虑X连锁疾病的重要性，同时也提示了新的共存突变增强表型的可能性。

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