Iardino Alfredo, Bunin Viviane, Truong Luan D, Preti Hector Alejandro
Internal Medicine, Texas Tech University at the Permian Basin, Odessa, Texas, USA.
Rheumatology, Houston Methodist Hospital, Houston, Texas, USA.
BMJ Case Rep. 2017 Oct 30;2017:bcr-2017-221798. doi: 10.1136/bcr-2017-221798.
A 42-year-old Hispanic female and long-distance runner was seen for evaluation of fatigue. Her physical examination showed petechiae and ecchymoses in upper extremities, abdominal distension and bilateral ankle oedema. Laboratory workup revealed anaemia, thrombocytopenia, hypoalbuminemia and proteinuria of 1.4 g/24 hours. No schistocytes were found on peripheral blood smear. CT of her abdomen revealed diffuse small lymphadenopathy and hepatomegaly. Bone marrow biopsy demonstrated normal trilineage hematopoiesis with no hemophagocytosis. The patient was started on oral prednisone with no improvement and was subsequently admitted to the hospital for pulsed steroids, intravenous immunoglobulin and rituximab. Her proteinuria became nephrotic range, and a renal biopsy revealed features of thrombotic microangiopathy limited to the glomerular capillaries. ADAMTS13 was low which is >10% of normal, and a diagnosis of atypical haemolytic-uraemic syndrome (aHUS) was made. Eculizumab was started with prompt response. Whole exome sequencing demonstrated mutation in SPTA1, which has been associated with red blood cell membrane diseases but has not been described in patients with aHUS.
一名42岁的西班牙裔女性长跑运动员因疲劳前来就诊。体格检查发现其上肢有瘀点和瘀斑、腹胀及双侧踝关节水肿。实验室检查显示贫血、血小板减少、低白蛋白血症以及24小时蛋白尿1.4克。外周血涂片未发现破碎红细胞。腹部CT显示弥漫性小淋巴结肿大和肝肿大。骨髓活检显示三系造血正常，无噬血细胞现象。患者开始口服泼尼松但无改善，随后住院接受脉冲类固醇、静脉注射免疫球蛋白和利妥昔单抗治疗。她的蛋白尿达到肾病范围，肾活检显示血栓性微血管病特征仅限于肾小球毛细血管。ADAMTS13低于正常的10%，诊断为非典型溶血性尿毒症综合征（aHUS）。开始使用依库珠单抗后迅速起效。全外显子测序显示SPTA1存在突变，该突变与红细胞膜疾病有关，但在aHUS患者中尚未有描述。
