PDF(Pubmed)
Abstract：
A girl in the early adolescent age group presented with multisystem manifestations in the form of periodic fever, recurrent abdominal pain, hypertension, seizure, skin lesions over the chest and gangrene over the left ring and middle fingertips. Her condition had remained undiagnosed for 11 years. On evaluation, she had features of polyarteritis nodosa (PAN) (multiple aneurysms, symmetric sensorimotor peripheral neuropathy, superficial ulcers, digital necrosis, myalgia, hypertension and proteinuria). As childhood PAN is a phenocopy of adenosine deaminase 2 with a different management strategy, whole-exome sequencing was performed, which revealed a pathogenic variant in ADA2 gene. The child was treated with TNF alpha inhibitors and showed improvement in the Paediatric Vasculitis Activity Score. The paper highlights the gratifying consequences of correct diagnosis with disease-specific therapy that ended the diagnostic odyssey, providing relief to the patient from debilitating symptoms and to the family from the financial burden of continued out-of-pocket health expenditure.
摘要：
青少年早期年龄组的女孩表现为周期性发烧的多系统表现，复发性腹痛,高血压,癫痫发作,胸部的皮肤病变和左指环和中指尖的坏疽。她的病情已经11年未确诊。关于评估，她有结节性多动脉炎（PAN）（多发性动脉瘤，对称性感觉运动周围神经病,浅表溃疡,数字坏死,肌痛，高血压和蛋白尿)。由于儿童PAN是腺苷脱氨酶2的表型，具有不同的管理策略，进行了全外显子组测序,这揭示了ADA2基因的致病变异。患儿接受TNFα抑制剂治疗，儿科血管炎活动评分改善。该论文强调了通过疾病特异性疗法进行正确诊断的可喜后果，从而结束了诊断冒险之旅，减轻患者的衰弱症状，并减轻家庭持续自付医疗支出的经济负担。
