背景:慢性肉芽肿病(CGD)是一种罕见的免疫缺陷性疾病,其特征是吞噬功能受损,导致反复感染和肉芽肿形成。NADPH氧化酶复合物成分的基因突变,比如CYBB,NCF1、NCF2和CYBA基因,有助于发病机制。此病例报告探讨了与CGD相关的可能的眼部和血液学并发症。
方法:一个有玻璃体切除术史的6岁女孩,膜切开术,由于先天性失明(诊断为脉络膜视网膜病变),激光治疗因全身性瘀斑和血小板减少而被转诊至医院。诊断检查最初建议慢性免疫性血小板减少性紫癜(ITP)。随后入院显示有坏死伤口,尿路感染,和复发性血小板减少症。怀疑免疫缺陷,CGD测试,进行了硝基蓝四唑(NBT)和二氢罗丹明(DHR)。她有一个低DHR(6.7),她的NBT测试为阴性(0.0%)。她的整个外显子组测序结果证实常染色体隐性CGD具有纯合NCF1突变。
结论:该病例强调了CGD的各种临床表现,包括复发性血小板减少症和可能的早发性眼部受累。诊断挑战突出了涉及血液学家的多学科方法的重要性。免疫学家,和眼科医生进行准确的诊断和管理。在CGD中ITP的罕见共存强调了免疫缺陷和自身免疫之间的复杂联系,需要量身定制的治疗策略。
BACKGROUND: Chronic Granulomatous Disease (CGD) is a rare immunodeficiency disorder characterized by impaired phagocytic function, leading to recurrent infections and granuloma formation. Genetic mutations in NADPH oxidase complex components, such as CYBB,
NCF1, NCF2, and CYBA genes, contribute to the pathogenesis. This
case report explores the possible ocular and hematologic complications associated with CGD.
METHODS: A 6-year-old girl with a history of vitrectomy, membranotomy, and laser therapy due to congenital blindness (diagnosed with chorioretinopathy) was referred to the hospital with generalized ecchymosis and thrombocytopenia. Diagnostic workup initially suggested chronic immune thrombocytopenic purpura (ITP). Subsequent admissions revealed necrotic wounds, urinary tract infections, and recurrent thrombocytopenia. Suspecting immunodeficiency, tests for CGD, Nitroblue tetrazolium (NBT) and dihydrorhodamine (DHR) were performed. She had a low DHR (6.7), and her NBT test was negative (0.0%). Her whole exome sequencing results confirmed autosomal recessive CGD with a homozygous
NCF1 mutation.
CONCLUSIONS: This
case underscores the diverse clinical manifestations of CGD, including recurrent thrombocytopenia and possible early-onset ocular involvement. The diagnostic challenges highlight the importance of a multidisciplinary approach involving hematologists, immunologists, and ophthalmologists for accurate diagnosis and management. The rare coexistence of ITP in CGD emphasizes the intricate link between immunodeficiency and autoimmunity, requiring tailored therapeutic strategies.