Oncology Unit, 3rd Department of Medicine, Sotiria General Hospital, Athens School of Medicine, Greece.
Ital J Pediatr. 2011 Sep 10;37:42. doi: 10.1186/1824-7288-37-42.
Wiskott-Aldrich syndrome is a rare X-linked immunodeficiency disorder that is characterized by a variable clinical phenotype. Matched donor bone marrow transplantation is currently the only curative therapeutic option. We present the case of a 24-year-old male who was diagnosed at the age of seven with Wiskott-Aldrich syndrome. He did not respond to intravenous gammaglobulin and he experienced recurrent pulmonary infections despite prophylactic antibiotics. The patient had no matched donor. At the age of nine, he was submitted to splenectomy and his platelet count was normalized. Fifteen years later, the patient remains asymptomatic with a normal platelet count. He is still receiving prophylactic antibiotics and no bleeding episodes or septic complications have been reported. This case demonstrates that splenectomy can represent a safe therapeutic option in selected WAS patients, provided that there is a tight follow-up program, patient education and adherence to guidelines regarding post-splenectomy prophylaxis.
威斯科特-奥尔德里奇综合征是一种罕见的 X 连锁免疫缺陷病,其特征是临床表现多样。目前,匹配供体骨髓移植是唯一的根治性治疗选择。我们报告了一例 24 岁男性患者的病例,他在 7 岁时被诊断为威斯科特-奥尔德里奇综合征。他对静脉注射丙种球蛋白没有反应,尽管使用预防性抗生素,他仍反复发生肺部感染。该患者没有匹配的供体。在 9 岁时,他接受了脾切除术,血小板计数恢复正常。15 年后,患者无症状,血小板计数正常。他仍在接受预防性抗生素治疗,没有出血发作或败血症并发症的报告。本病例表明,脾切除术在有严格随访计划、患者教育和遵守关于脾切除术后预防的指南的情况下,可为某些 WAS 患者提供一种安全的治疗选择。