卡塔格纳综合征伴肺曲霉球和复发性血栓栓塞：一例病例报告

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中文摘要

背景： 卡塔格纳综合征是原发性纤毛运动障碍的一种变异型，其特征为慢性鼻窦炎、支气管扩张和内脏反位。虽然可见反复感染，但血栓栓塞性疾病、肺曲霉球、心功能障碍以及自身免疫性疾病的血清学证据的组合非常罕见。
患者关注： 一名27岁男性，患有卡塔格纳综合征和完全性内脏反位，主诉呼吸困难加重、胸痛、发热、咯血和踝部肿胀。其既往病史包括深静脉血栓形成发作、复发性肺栓塞和慢性咳痰。
诊断： 影像学研究显示右位心、提示肺曲霉球的右上叶空洞性病变、肝淤血和腹水。超声心动图显示左右心室严重功能障碍、右心室血栓、轻至中度心包积液，射血分数约40%。BNP升高，U1-核糖核蛋白抗体阳性，提示可能重叠自身免疫性疾病，但未满足诊断标准。
干预： 给予适当的心力衰竭管理、抗凝治疗、抗真菌药物以及其他问题的多学科治疗。
结果与教训： 患者的心肺、感染和血栓栓塞并发症得到了充分管理。未能发现这些疾病之间的因果关系。本病例强调了对患有先天性和获得性系统性疾病组合的患者进行评估时需要多学科方法。卡塔格纳综合征、肺曲霉球、血栓栓塞倾向、右心室血栓形成、心功能障碍和U1-RNP阳性的关联是一种不寻常的组合，需要适当评估。

英文摘要

RATIONALE: Kartagener syndrome, a variant of primary ciliary dyskinesia, is defined by chronic sinusitis, bronchiectasis, and situs inversus. While recurrent infections are seen, a combination of thromboembolic disease, pulmonary mycetoma, cardiac dysfunction, and serological evidence of autoimmune disorders is very uncommon.
PATIENT CONCERNS: A 27-year-old man with Kartagener syndrome and situs inversus totalis complaining of worsening dyspnea, chest pain, fever, hemoptysis, and ankle swelling. His past medical history included episodes of deep vein thrombosis, recurrent pulmonary embolism, and chronic productive cough.
DIAGNOSES: Radiologic studies showed dextrocardia, a right upper lobe cavitary lesion indicative of pulmonary mycetoma, hepatic congestion, and ascites. The echocardiogram demonstrated severe dysfunction of both left and right ventricles, a thrombus in the right ventricle, mild-moderate pericardial effusion, and an ejection fraction of about 40%. BNP was elevated, and U1-ribonucleoprotein antibodies were positive, implying a probable overlap of autoimmune disease, but diagnostic criteria were not fulfilled.
INTERVENTIONS: He was prescribed appropriate heart failure management, anticoagulant therapy, antifungals, and multidisciplinary treatment of other issues.
OUTCOMES AND LESSONS: The patient underwent adequate management of his cardiopulmonary, infectious, and thromboembolic complications. The existence of a causal link between these diseases could not be found. This case underscores the need for a multidisciplinary approach in evaluating patients with a combination of congenital and acquired systemic diseases. The association of Kartagener syndrome, pulmonary mycetoma, thromboembolic tendency, right ventricular thrombus formation, cardiac dysfunction, and positive U1-RNP is an unusual combination and calls for proper evaluation.