Glerup Mia, Herlin Troels, Rittig Søren, Grønbæk Kirsten, Hokland Marianne, Hasle Henrik
Department of Pediatrics, Aarhus University Hospital, Skejby, Denmark.
J Pediatr Hematol Oncol. 2013 Jul;35(5):e187-9. doi: 10.1097/MPH.0b013e31828ac9fe.
Autoimmune lymphoproliferative syndrome (ALPS) is caused by a nonmalignant defective Fas-mediated apoptosis. The main clinical manifestations are chronic lymphadenopathy, splenomegaly, and autoimmune cytopenia. Most patients with ALPS have a FAS germline mutation. ALPS has occasionally been associated with glomerulonephritis and we present the first report of tubulointerstitial nephritis associated with probable ALPS. A 5-year-old girl presented with fever, vomiting, hypertension, and azotemia. No autoantibodies, viral, or streptococcal antibodies were detected. A renal biopsy showed small-vessel vasculitis with normal glomeruli and inflammation in the interstitium. The patient responded to prednisolone treatment and obtained a full renal recovery. Symptoms of connective tissue disorder supervened and after the development of more pronounced splenomegaly, a diagnosis of ALPS was confirmed.
自身免疫性淋巴细胞增生综合征(ALPS)由非恶性的Fas介导的凋亡缺陷引起。主要临床表现为慢性淋巴结病、脾肿大和自身免疫性血细胞减少。大多数ALPS患者存在FAS种系突变。ALPS偶尔与肾小球肾炎相关,我们报告首例可能与ALPS相关的肾小管间质性肾炎。一名5岁女孩出现发热、呕吐、高血压和氮质血症。未检测到自身抗体、病毒或链球菌抗体。肾活检显示小血管血管炎,肾小球正常,间质有炎症。患者对泼尼松龙治疗有反应,肾脏完全恢复。结缔组织病症状随后出现,在脾肿大更明显后,确诊为ALPS。