Gillion Valentine, Jadoul Michel, Aydin Selda, Godefroid Nathalie
Division of Nephrology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
Division of Pathology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
BMC Nephrol. 2017 Mar 29;18(1):105. doi: 10.1186/s12882-017-0527-4.
Alport syndrome and ANCA-associated vasculitis are both rare diseases. The co-existence of these two conditions has never been reported. There is no obvious pathogenic link between these two glomerular diseases. The management of this case highlights the importance of a systematic approach when investigating the unexpected unfavourable evolution of a known glomerulopathy.
A-17 year old caucasian boy with a genetically proven X-linked Alport syndrome presented with progressive dyspnea, fatigue and pallor. His blood tests showed a severe anemia (Hb 6.9 g/dl) with acute worsening of kidney function (serum creatinine, normal 9 months earlier, was now 3.6 mg/dl). Microscopic hematuria and proteinuria also worsened. He soon developed signs of alveolar hemorrhage. Serological tests showed the presence of perinuclear ANCA with anti MPO specificity. Kidney biopsy showed a necrotizing and crescentic glomerulonephritis. Pulses of methylprednisolone were given in combination with plasmapheresis. The patient further received 6 pulses of cyclophosphamide, followed by maintenance oral azathioprine. During the 15-months follow up he remained well with serum creatinine back to normal, and some residual proteinuria and hematuria ascribed to Alport syndrome.
We report a young patient with the coexistence of Alport syndrome and ANCA associated vasculitis. Clinicians should be aware of the possibility of a second acquired disease in a patient with a known kidney disease, genetic in this case. This coexistence is very rare, but should be considered even if both diseases are rare, if the evolution is atypical for the single (known) primary disease. The diagnosis of the added vasculitis prompted in our case the initiation of immunosuppressive drugs, with a favourable outcome.
奥尔波特综合征和抗中性粒细胞胞浆抗体相关性血管炎均为罕见疾病。这两种疾病并存的情况此前从未有过报道。这两种肾小球疾病之间不存在明显的致病联系。该病例的处理突出了在调查已知肾小球病意外的不良进展时采用系统方法的重要性。
一名17岁的白种男孩，经基因检测证实患有X连锁奥尔波特综合征，出现进行性呼吸困难、乏力和面色苍白。血液检查显示严重贫血（血红蛋白6.9g/dl），肾功能急性恶化（血清肌酐9个月前正常，现为3.6mg/dl）。镜下血尿和蛋白尿也加重。他很快出现肺泡出血的体征。血清学检查显示存在具有抗髓过氧化物酶特异性的核周抗中性粒细胞胞浆抗体。肾活检显示为坏死性新月体性肾小球肾炎。给予甲泼尼龙冲击治疗并联合血浆置换。患者进一步接受了6次环磷酰胺冲击治疗，随后口服硫唑嘌呤维持治疗。在15个月的随访期间，他情况良好，血清肌酐恢复正常，仍有一些归因于奥尔波特综合征的残余蛋白尿和血尿。
我们报告了一名奥尔波特综合征与抗中性粒细胞胞浆抗体相关性血管炎并存的年轻患者。临床医生应意识到已知患有肾脏疾病（本例为遗传性）的患者可能并发第二种后天性疾病。这种并存情况非常罕见，但即使两种疾病都很罕见，如果单一（已知）原发性疾病的病情发展不典型，也应予以考虑。在我们的病例中，新增血管炎的诊断促使启动免疫抑制药物治疗，取得了良好的效果。
