Schenone Laurence, Notarantonio Anne-Béatrice, Latger-Cannard Véronique, Fremeaux-Bacchi Veronique, De Carvalho-Bittencourt Marcelo, Rubio Marie-Thérèse, Muller Marc, D'Aveni Maud
Department of Hematology, CHRU de Nancy, Nancy F-54000, France.
IMoPA, CNRS 7365, University of Lorraine, Nancy F-54000, France.
World J Clin Cases. 2022 Jun 16;10(17):5702-5707. doi: 10.12998/wjcc.v10.i17.5702.
Patients with paroxysmal nocturnal hemoglobinuria (PNH) have a clonal population of blood cells deficient in glycosylphosphatidylinositol-anchored (GPI-anchored) proteins, most of the time resulting from a mutation in the X-linked gene PIGA. We report a patient with PNH resulting from a rare biallelic PIGT mutation on chromosome 20.
A 47-year-old man was referred to our hospital for febrile pancytopenia. The patient reported a history of recurrent urticaria and arthralgia and he presented during 3 mo recurrent acute dermo-hypodermitis and aseptic meningitidis. Based on clinical cases published with PIGT-PNH, with clinically typical PNH and autoinflammatory symptoms, we treated our patients with repeated infusions of eculizumab to decrease autoinflammatory symptoms and then we performed an allogeneic stem cell transplantation (allo-SCT) with a mismatched unrelated donor. Our patient experienced no acute Graft Host disease (GvHD) and a moderate chronic GvHD and is now considered cured at 24 mo after allo-SCT.
This case report suggests that allo-SCT should be considered to cure PIGT-PNH patients.
阵发性睡眠性血红蛋白尿（PNH）患者存在一群糖基磷脂酰肌醇锚定（GPI锚定）蛋白缺陷的克隆性血细胞，大多数情况下是由X连锁基因PIGA突变引起的。我们报告了一例由20号染色体上罕见的双等位基因PIGT突变导致的PNH患者。
一名47岁男性因发热性全血细胞减少症转诊至我院。患者自述有复发性荨麻疹和关节痛病史，在3个月内出现复发性急性皮肤-皮下组织炎和无菌性脑膜炎。基于已发表的PIGT-PNH临床病例，伴有典型的PNH临床症状和自身炎症症状，我们对患者反复输注依库珠单抗以减轻自身炎症症状，然后采用不匹配的无关供体进行异基因干细胞移植（allo-SCT）。患者未发生急性移植物抗宿主病（GvHD），慢性GvHD程度较轻，allo-SCT后24个月时目前被认为已治愈。
本病例报告提示，应考虑采用allo-SCT治愈PIGT-PNH患者。
