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[患有非重度乙型血友病的兄弟中的巨大血友病性假肿瘤]

[Giant hemophilic pseudotumors in brothers with non-severe hemophilia B].

作者信息

Matsumura Ikuko, Yanagisawa Kunio, Ogawa Yoshiyuki, Shimizu Hiroaki, Ishizaki Takuma, Mitsui Takeki, Uchiumi Hideki, Uchiyama Yuri, Matsumuto Naomichi, Handa Hiroshi

机构信息

Department of Hematology, Gunma University Hospital.

Hidaka-kai Shirane Clinic.

出版信息

Rinsho Ketsueki. 2018;59(3):287-292. doi: 10.11406/rinketsu.59.287.

DOI:10.11406/rinketsu.59.287
PMID:29618686
Abstract

Hemophilic pseudotumors can occur in patients with hemophilia because of recurrent bleeding and poor hemostasis. A man in his 30s with hemophilia B and human immunodeficiency virus/hepatitis C virus co-infection complicated by liver cirrhosis presented with a large pseudotumor in the left iliopsoas muscle. However, resting to stop bleeding was difficult with his daily work. Osteolytic changes in the left ilium progressed over 8 years. A large osteolytic pseudotumor in the pelvis was also incidentally identified in his younger brother during his 30s. The same mutations in F9 (p. Arg294Gln, hemizygous mutation) associated with a non-severe phenotype were detected in both brothers. The clinical courses of the brothers suggested that large pseudotumors can occur in patients with non-severe hemophilia and underline the importance of patient education.

摘要

血友病性假肿瘤可发生于血友病患者,原因是反复出血和止血功能不佳。一名30多岁的男性,患有乙型血友病且合并人类免疫缺陷病毒/丙型肝炎病毒感染,并伴有肝硬化,左髂腰肌出现一个巨大的假肿瘤。然而,由于日常工作,他很难通过休息来止血。左髂骨的骨质溶解改变在8年中逐渐进展。在他30多岁的弟弟中,也偶然发现骨盆有一个巨大的溶骨性假肿瘤。在两兄弟中均检测到F9基因相同的突变(p.Arg294Gln,半合子突变),该突变与非严重表型相关。兄弟俩的临床病程表明,非严重血友病患者也可出现巨大假肿瘤,并凸显了患者教育的重要性。

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