Sevinc Mustafa, Basturk Taner, Sahutoglu Tuncay, Sakaci Tamer, Koc Yener, Ahbap Elbis, Akgol Cuneyt, Kara Ekrem, Brocklebank Vicky, Goodship Tim H J, Kavanagh David, Unsal Abdulkadir
Department of Nephrology, Sisli Hamidiye Etfal Training and Education Hospital, Halaskargazi Cad. Etfal Sok, 34371, Şişli, Istanbul, Turkey.
Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
J Med Case Rep. 2015 Apr 29;9:92. doi: 10.1186/s13256-015-0575-y.
Thrombotic microangiopathies are a group of diseases presenting as microangiopathic hemolytic anemia, thrombocytopenia and end-organ dysfunction. As the role of the complement system was elucidated in atypical hemolytic uremic syndrome pathogenesis, eculizumab was successfully introduced into clinical practice. We present a large pedigree with multiple individuals carrying a functionally significant novel factor H mutation. We describe the proband's presentation following a presumed infectious trigger requiring plasma exchange and hemodialysis.
A 32-year-old Caucasian woman presented with pyrexia and headache lasting one week to our Emergency Department. She gave no history of diarrhea or other symptoms to account for her high temperature. She was not taking any medication. She was pyrexial (38°C), tachycardic (110 bpm) and hypertensive (160/110 mmHg). Her fundoscopy revealed grade IV hypertensive retinopathy. She had mild pretibial and periorbital edema, with oliguria (450 mL/day). She had a pregnancy one year previously, during which she had hypertension, proteinuria and edema, with successful delivery at term. Her mother had died in her early 30s with a clinical picture consistent with thrombotic microangiopathy. Her laboratory evaluation showed microangiopathic hemolytic anemia. After 22 sessions of plasma exchange, her lactate dehydrogenase levels started to climb. As a result, she was classified as plasma resistant and eculizumab therapy was instituted. Her lactate dehydrogenase level and platelet count normalized, and her renal function recovered after three months of dialysis.
We demonstrate that, even in patients with atypical hemolytic uremic syndrome and prolonged dialysis dependence, recovery of renal function can be seen with eculizumab treatment. We suggest a treatment regime of at least three months prior to evaluation of efficacy.
血栓性微血管病是一组以微血管病性溶血性贫血、血小板减少和终末器官功能障碍为表现的疾病。随着补体系统在非典型溶血性尿毒症综合征发病机制中的作用得到阐明，依库珠单抗成功引入临床实践。我们报告了一个大家族，其中多个个体携带功能显著的新型因子H突变。我们描述了先证者在假定感染诱因后出现的症状，其需要进行血浆置换和血液透析。
一名32岁的白人女性因发热和头痛持续一周到我院急诊科就诊。她没有腹泻或其他症状可解释其高热。她未服用任何药物。她发热（38°C）、心动过速（110次/分钟）且高血压（160/110 mmHg）。眼底检查显示为IV级高血压视网膜病变。她有轻度胫前和眶周水肿，少尿（450毫升/天）。她一年前怀孕，期间有高血压、蛋白尿和水肿，足月成功分娩。她的母亲在30岁出头时死于临床表现与血栓性微血管病一致的疾病。实验室检查显示为微血管病性溶血性贫血。在进行22次血浆置换后，她的乳酸脱氢酶水平开始上升。因此，她被归类为对血浆治疗抵抗，并开始使用依库珠单抗治疗。她的乳酸脱氢酶水平和血小板计数恢复正常，透析三个月后肾功能恢复。
我们证明，即使是患有非典型溶血性尿毒症综合征且长期依赖透析的患者，使用依库珠单抗治疗后肾功能也可恢复。我们建议在评估疗效前至少进行三个月的治疗。
