治疗获得性丙酮酸激酶缺乏症的 Mitapivat。

IF 2.4 3区 医学 Q2 HEMATOLOGY Pediatric Blood & Cancer Pub Date : 2024-11-13 DOI:10.1002/pbc.31440
Hanny Al-Samkari
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引用次数: 0

摘要

丙酮酸激酶(PK)激活正逐渐成为一种治疗多种先天性溶血性贫血的有前途的方法,其病理生理学各不相同,其中一种药物米他匹伐已获得治疗先天性PK缺乏症患者的许可。然而,PK 缺乏症也可能是在克隆性髓细胞疾病和其他病理情况下获得的,它可能导致严重的溶血性贫血,但目前仍没有已知的治疗方法。本病例报告描述了米他匹伐疗法在一名后天性 PK 缺乏症患者身上的新应用,该疗法导致了患者对红细胞输注的依赖,使患者摆脱了输血,并明显改善了症状和生活质量。
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Mitapivat for Acquired Pyruvate Kinase Deficiency.

Pyruvate kinase (PK) activation is emerging as a promising treatment modality for numerous congenital hemolytic anemias of diverse pathophysiology, and one agent, mitapivat, is already licensed to treat patients with congenital PK deficiency. However, PK deficiency may also be acquired in the setting of clonal myeloid disorders and other pathologies, where it may result in severe hemolytic anemia and remains without known therapies. This case report describes the novel application of mitapivat therapy in a patient with acquired PK deficiency causing red cell transfusion dependence, liberating the patient from transfusions and resulting in marked improvement in symptoms and quality of life.

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来源期刊
Pediatric Blood & Cancer
Pediatric Blood & Cancer 医学-小儿科
CiteScore
4.90
自引率
9.40%
发文量
546
审稿时长
1.5 months
期刊介绍: Pediatric Blood & Cancer publishes the highest quality manuscripts describing basic and clinical investigations of blood disorders and malignant diseases of childhood including diagnosis, treatment, epidemiology, etiology, biology, and molecular and clinical genetics of these diseases as they affect children, adolescents, and young adults. Pediatric Blood & Cancer will also include studies on such treatment options as hematopoietic stem cell transplantation, immunology, and gene therapy.
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