阵发性睡眠性血红蛋白尿症发病机制、诊断及治疗进展
阵发性睡眠性血红蛋白尿症(paroxysmal nocturnal hemoglobinuria，PNH)是一种罕见的因造血干细胞获得性基因突变导致的疾病，临床表现主要有血管内溶血、骨髓衰竭和反复血栓形成，磷脂 …
阵发性睡眠性血红蛋白尿（PNH） - 血液病学及肿瘤病学 - MSD诊 …
阵发性夜间血红蛋白尿症是一种由获得性突变引起的克隆性疾病 PIGA 造血干细胞基因。 PIGA基因位于X染色体上，其可编码一种蛋白质，该蛋白质对于糖基磷脂酰肌醇（GPI）在膜蛋白上 …
可治性罕见病—阵发性睡眠性血红蛋白尿 - 知乎
阵发性睡眠性血红蛋白尿 ( paroxysmal nocturnal hemoglobinuria，PNH)是一种少见的获得性克隆性造血干细胞疾病，表现为溶血性贫血、血栓和骨髓衰竭 [1~4]。 PNH是由造血干细胞出现磷 …
Mutational landscape and its clinical significance in paroxysmal ...
2021年3月16日 · Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder caused by mutation of the X-linked PIGA gene, resulting in a...
Paroxysmal nocturnal haemoglobinuria - Nature Reviews …
2017年5月18日 · Paroxysmal nocturnal haemoglobinuria (PNH) is a clonal haematopoietic stem cell (HSC) disease that presents with haemolytic anaemia, thrombosis and smooth muscle...
Insights from Trajectories of PIGA-Mutated Clones in Paroxysmal ...
2023年11月2日 · Background: Patients with paroxysmal nocturnal hemoglobinuria (PNH) exhibit clonal expansion of hematopoietic cells deficient in glycosylphosphatidylinositol-anchored …
Identification of acquired PIGA mutations and additional
It is caused by somatic mutation of the X-linked PIGA gene, resulting in a deficient expression of glycosylphosphatidylinositol-anchored proteins (GPI-APs). In this study, we aimed to explore …
Paroxysmal Nocturnal Hemoglobinuria: Causes, Symptoms
Paroxysmal nocturnal hemoglobinuria (PNH) can manifest at any age, but it is most frequently diagnosed in young adults, typically between the ages of 30 and 40 years. Interestingly, some …
【协和医学杂志】阵发性睡眠性血红蛋白尿症多学科诊疗专家共识…
2024年11月1日 · 阵发性睡眠性血红蛋白尿症（PNH）是一种后天获得性造血干细胞克隆性疾病。 由于造血干细胞磷脂酰肌醇聚糖A（PIGA）基因突变，影响锚链蛋白糖基磷脂酰肌醇（GPI） …
Understanding PIGA Mutations in PNH - HealthCentral
2023年3月17日 · The PIGA protein plays a critical role in protecting your red blood cells. Experts explain how it fails, and what happens next in paroxysmal nocturnal hemoglobinuria.
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