Pradhan Saishree, Krishnamurthy Sriram, Jagadisan Barath, Rajesh Nachiappa G, Kaliaperumal Subashini, Ramasamy Suryaprakash, Subramanian Nandeeswari
a Department of Pediatrics , Jawaharlal Institute of Postgraduate Medical Education and Research , Pondicherry , India.
b Department of Pathology , Jawaharlal Institute of Postgraduate Medical Education and Research , Pondicherry , India.
Paediatr Int Child Health. 2019 May;39(2):146-149. doi: 10.1080/20469047.2018.1443411. Epub 2018 Mar 12.
A 12-year-old girl born to third-degree consanguineous parents presented with recurrent episodes of haematuria for 8 months in association with peri-orbital and lower limb oedema for 20 days. There was no jaundice, hepatomegaly or neurological abnormality at presentation. An older brother had died following jaundice at 10 years of age. Urinalysis showed multiple dysmorphic erythrocytes without proteinuria and there was leucopenia, thrombocytopenia and hypo-albuminaemia (23 g/L). C component of complementaemia was low and anti-nuclear antibodies and anti-double-stranded DNA antibodies were strongly positive by immunofluorescence. Systemic lupus erythematosus (SLE) was considered but the severe hypo-albuminaemia was unexplained. During the pre-renal biopsy work-up, a deranged coagulation profile with raised transaminases prompted evaluation for chronic liver disease which culminated in the diagnosis of Wilson disease. Treatment with penicillamine and immunosuppressants was initiated, but there was neurological deterioration on Day 30 of admission and she died owing to worsening liver failure on the Day 41. Post-mortem liver biopsy demonstrated cirrhosis and post-mortem renal biopsy showed features of class-II lupus nephritis. Auto-immune antibodies and autoimmune disorders have been reported in Wilson disease and there are anecdotal reports of an association of SLE with Wilson disease. However, this case is unique in that lupus nephritis was the presenting manifestation before Wilson disease was diagnosed. The underlying pathophysiological mechanisms of this association requires further research.
一名12岁女孩，其父母为三级近亲，出现反复血尿8个月，并伴有眶周及下肢水肿20天。就诊时无黄疸、肝肿大或神经异常。一个哥哥在10岁时因黄疸去世。尿液分析显示有多个畸形红细胞但无蛋白尿，同时存在白细胞减少、血小板减少和低白蛋白血症（23g/L）。补体C成分血症较低，免疫荧光显示抗核抗体和抗双链DNA抗体呈强阳性。考虑为系统性红斑狼疮（SLE），但严重的低白蛋白血症无法解释。在肾活检前的检查中，凝血指标异常伴转氨酶升高促使对慢性肝病进行评估，最终诊断为威尔逊病。开始使用青霉胺和免疫抑制剂治疗，但入院第30天出现神经功能恶化，第41天因肝功能衰竭加重而死亡。尸检肝活检显示肝硬化，尸检肾活检显示II级狼疮性肾炎特征。威尔逊病中曾报道过自身免疫抗体和自身免疫性疾病，也有SLE与威尔逊病关联的轶事报道。然而，该病例独特之处在于狼疮性肾炎是在威尔逊病确诊之前的首发表现。这种关联的潜在病理生理机制需要进一步研究。
