PDF(Pubmed)
Abstract：
Systemic sclerosis (SSc), also called scleroderma, is an auto-immune rheumatic disease that is characterized by fibrosis of the skin and internal organs and vasculopathy. Three of the severe manifestations of the disease include a scleroderma renal crisis (SRC), pulmonary arterial hypertension, and digital ulceration. Vascular manifestations like Raynaud\'s phenomenon are an almost universal symptom in patients with SSc and are often the earliest manifestation of the disease. An SRC occurs in approximately 10% of all patients with scleroderma. It is characterized by malignant hypertension and progressive renal failure. However, about 10% of SRC cases present with normal blood pressure or a normotensive renal crisis. A 65-year-old man with a history of peripheral vascular disease and newly diagnosed heart failure presented to the emergency department on account of progressive discoloration of the left big toe and intermittent confusion. Initially, he was noted to be hemodynamically stable, with bluish discoloration of his left lower extremity and left big toe, which was tender to palpation with palpable distal pulses. His left toe progressively became dusky and gangrenous, necessitating ray amputation by vascular surgery. His hospital course was further complicated by worsening acute kidney injury, requiring initiation of hemodialysis, and progressive hypoxia with the transition from room air to high-flow oxygen. As part of his workup for acute kidney injury (AKI), his antinuclear antibody (ANA) was found to be positive, with high titers, as well as elevated SCl-70 IgG. Despite the initiation of hemodialysis, and post-surgical revision, he continued to deteriorate. His family opted for comfort care measures, and he died a few days later. Although SSc is a rare disease, it is associated with significant morbidity and has one of the highest mortality rates among connective tissue diseases. SSc can present with heterogeneous manifestations, mimicking several isolated organ-specific conditions. This makes the diagnosis challenging, especially early in the course of the disease. A high index of suspicion, especially in the setting of rapidly progressing multi-organ involvement without a clear cause, should prompt further evaluation of systemic sclerosis.
摘要：
系统性硬化症（SSc），也叫硬皮病,是一种自身免疫性风湿性疾病，其特征是皮肤和内脏器官的纤维化和血管病变。该疾病的三种严重表现包括硬皮病肾危象（SRC），肺动脉高压,和数字溃疡。像雷诺现象这样的血管表现是SSc患者几乎普遍的症状，并且通常是该疾病的最早表现。SRC发生在大约10%的硬皮病患者中。它的特征是恶性高血压和进行性肾功能衰竭。然而,约10％的SRC病例表现为血压正常或血压正常的肾脏危象。由于左大脚趾进行性变色和间歇性混乱，一名65岁的男子有外周血管疾病和新诊断的心力衰竭病史。最初，他被认为是血液动力学稳定的，他的左下肢和左大脚趾呈蓝色变色，触诊时可触及远端脉冲。他的左脚趾逐渐变得昏暗和坏疽，需要通过血管手术进行射线截肢。他的住院过程因急性肾损伤恶化而更加复杂，需要开始血液透析,随着室内空气向高流量氧气的过渡，逐渐缺氧。作为他治疗急性肾损伤(AKI)的一部分，他的抗核抗体（ANA）被发现是阳性，具有高滴度，以及升高的SCl-70IgG。尽管开始了血液透析,和术后翻修，他继续恶化。他的家人选择了舒适护理措施，几天后他就死了.尽管SSc是一种罕见的疾病，它与显著的发病率相关,并且是结缔组织疾病中死亡率最高的疾病之一.SSc可以呈现异质表现，模仿几个孤立的器官特定条件。这使得诊断具有挑战性，尤其是在疾病的早期。高度怀疑，特别是在没有明确原因的情况下，快速发展的多器官受累，应提示系统性硬化症的进一步评估。
