一名患有歌舞伎综合征、免疫球蛋白缺乏症和肉芽肿性淋巴细胞间质性肺病的18岁女性。
An 18-year-old woman with Kabuki syndrome, immunoglobulin deficiency and granulomatous lymphocytic interstitial lung disease.
作者信息
De Dios Jose Angelo A, Javaid Adnan A, Ballesteros Enrique, Metersky Mark L
机构信息
Division of Pulmonary and Critical Care Medicine, University of Connecticut Health Center, Farmington, USA.
出版信息
Conn Med. 2012 Jan;76(1):15-8.
Granulomatous lymphocytic interstitial lung disease, or GLILD, is an uncommon condition associated with common variable immunodeficiency (CVID). We present an interesting case of an 18-year-old woman with Kabuki syndrome and CVID who was seen in our clinic for an abnormal chest CT scan. She was subsequently diagnosed with GLILD. There are no established guidelines for the treatment of GLILD in CVID. Immune globulin replacement therapy is the main treatment for CVID and higher doses of intravenous immunoglobulin (IVIG) may prevent the progression of chronic lung disease. Patients with CVID and GLILD are at increased risk for malignancy and their prognosis is worse compared to patients with CVID without GLILD.
肉芽肿性淋巴细胞间质性肺病（GLILD）是一种与普通可变免疫缺陷（CVID）相关的罕见病症。我们报告了一例有趣的病例，一名18岁患有歌舞伎综合征和CVID的女性因胸部CT扫描异常前来我们诊所就诊。她随后被诊断为GLILD。目前尚无针对CVID中GLILD治疗的既定指南。免疫球蛋白替代疗法是CVID的主要治疗方法，更高剂量的静脉注射免疫球蛋白（IVIG）可能会预防慢性肺病的进展。患有CVID和GLILD的患者发生恶性肿瘤的风险增加，与没有GLILD的CVID患者相比，他们的预后更差。
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