阵发性睡眠性血红蛋白尿症（paroxysmal nocturnal hemoglobinuria, PNH）是一种由于1个或几个造血干细胞经获得性体细胞PIG-A基因（phosphotidyl inositol glycan complementation group A）突变造成的非恶性的克隆性疾病，PIG-A突变造成糖基磷脂酰肌醇（glycosyl phosphatidyl inositol，GPI）合成 ...

2023年7月31日 · Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease that presents clinically with a variety of nonspecific symptoms. It causes complications mainly through intravascular hemolysis, thrombosis, and bone marrow failure.

陣發性夜間血紅素尿症 （英語： paroxysmal nocturnal hemoglobinuria，縮寫為 PNH）是一種罕見、複雜且為後天造成的致命性 血液 疾病 [3]，被發現在 19世紀，大約每百萬人會有一到二人罹患此疾病 [4][5]，而確診後5年內的存活率只有約65% [6]。

Paroxysmal nocturnal hemoglobinuria (PNH) is a chronic, multi-systemic, progressive and life-threatening disease characterized by intravascular hemolysis, thrombotic events, serious infections and bone marrow failure. 1, 2 Hemolysis in PNH is due to the action of the complement on abnormal red blood cells (RBCs).

2025年3月19日 · Paroxysmal nocturnal haemoglobinuria (PNH) is a haemolytic anaemia characterised by evidence of intravascular haemolysis such as haemoglobinuria and elevation of plasma lactate dehydrogenase. Diagnosis can be made by flow cytometry of granulocytes and red blood cells, looking for the lack of the ...

Patients with classic PNH have clinical evidence of intravascular hemolysis (reticulocytosis, abnormally high concentration of serum lactate dehydrogenase [LDH] and indirect bilirubin, and abnormally low concentration of serum haptoglobin) but have no evidence of another defined bone marrow abnormality.

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired, clonal disorder affecting hematopoiesis. It is characterized by chronic intravascular hemolysis (IVH), pronounced thrombophilia and variable cytopenia. Most patients are diagnosed in young adulthood with a median of 35–40 years.

2024年10月30日 · 阵发性睡眠性血红蛋白尿症（PNH）是一种罕见的血液系统疾病，可引发溶血、骨髓衰竭和血栓并发症等，严重者可危及生命。 长期以来，PNH面临着诊断困难的临床挑战，延迟诊断现状亟待改善。 最新发布的《阵发性睡眠性血红蛋白尿症诊断与治疗中国指南（2024年版）》提出了更为详细的诊断标准和流程1，进一步改善了患者预后。 值此契机，医脉通诚邀 四川大学华西医院何川教授 结合指南更新要点分享对PNH诊断与分型的独到见解。 由于PNH临床表 …

2020年2月26日 · Paroxysmal nocturnal haemoglobinuria (PNH) is a rare haematological disease. A mutation in haematopoietic stem cells can result in the generation of red blood cells lacking...

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脂酰肌醇糖苷A (phosphatidylinositol glycan class A，PIGA)基因一个或多个突变导致的。 PIGA基因 位于X染色体，其编码的蛋白是糖基化磷酯酰肌醇锚定蛋白 (glycosylphosphatidylinositol-anchored proteins， GPI - APs)合成的第1步所必需的。 PIGA基因突变可引起GPI - APs CD55和CD59的 …