PDF(Pubmed)
Abstract：
Typical or atypical presentations of rare diseases may be confounded by co-morbidities in critically-ill patients. It is imperative to diagnose and treat appropriately, despite this difficulty. Scleroderma renal crisis mimics many other conditions, and can be potentially fatal if not caught early enough. Particularly, in critically-ill patients with multiple pathologies, it can be difficult to distinguish scleroderma renal crisis from other diseases, such as thrombotic thrombocytopenic purpura (TTP), hypertensive emergency, posterior reversible encephalopathy syndrome (PRES), or atypical hemolytic uremic syndrome (HUS). Herein, a patient who presented with encephalopathy and seizures was initially treated for thrombotic thrombocytopenic purpura, but was ultimately diagnosed with scleroderma renal crisis. Given her numerous laboratory abnormalities, such as thrombocytopenia, hemolytic anemia, kidney and liver dysfunction, and elevated inflammatory markers, various differentials were considered. During her hospitalization, she suffered a cardiac arrest, seizures, nosocomial infections and worsening kidney disease requiring dialysis, making the final diagnosis of scleroderma renal crisis a diagnosis of exclusion. Subsequently, the management of a patient with multiple co-morbidities and confounding laboratory abnormalities difficult to treat. This article highlights these intricacies and formulates the thought process behind the diagnosis of Scleroderma Renal Crisis.
摘要：
危重病人的合并症可能会混淆罕见疾病的典型或非典型表现。必须正确诊断和治疗，尽管有这个困难。硬皮病肾危象模拟许多其他情况，如果发现不够早，可能会致命。特别是,在患有多种病理的危重患者中，很难区分硬皮病和其他疾病，如血栓性血小板减少性紫癜（TTP），高血压急症,后部可逆性脑病综合征（PRES），或非典型溶血性尿毒综合征（HUS）。在这里，一名患有脑病和癫痫的患者最初接受了血栓性血小板减少性紫癜的治疗，但最终被诊断为硬皮病肾危象。鉴于她的许多实验室异常，比如血小板减少症,溶血性贫血,肾脏和肝脏功能障碍，炎症标志物升高，考虑了各种差异。在她住院期间,她心脏骤停,癫痫发作,医院感染和恶化的肾脏疾病需要透析，使硬皮病肾危象的最终诊断成为排除性诊断。随后，对患有多种合并症和难以治疗的混杂实验室异常的患者的管理。本文重点介绍了这些复杂性，并阐述了硬皮病肾危象诊断背后的思维过程。
