Somach S C, Davis B R, Paras F A, Petrelli M, Behmer M E
Department of Dermatology, Case Western Reserve University, Cleveland, Ohio, USA.
Arch Dermatol. 1995 Jul;131(7):821-3.
Cutaneous necrosis of the proximal lower extremities in a patient with end-stage renal disease is the classic presentation of calciphylaxis, an untreatable, rare, generally fatal necrotizing cutaneous syndrome. Type 1 primary hyperoxaluria (PH-1) usually presents in childhood with recurrent urolithiasis. Since enzymatic studies to confirm the metabolic defect are now available, some cases of idiopathic renal failure in adulthood have been shown to be caused by PH-1. These patients may develop vascular oxalate deposits resulting in livedo reticularis and distal acral vascular insufficiency.
We describe a patient who presented in end-stage renal failure with proximal lower extremity cutaneous necrosis suggestive of calciphylaxis. A cutaneous biopsy specimen revealed oxalate crystals within blood vessels, and a diagnosis of PH-1 was confirmed enzymatically.
This patient illustrates that PH-1 may present in adulthood, and, in the setting of cutaneous necrosis associated with end-stage renal disease, it may be confused with calciphylaxis. The importance of making a diagnosis of PH-1 is the potential ability to achieve long-term survival by reversing the underlying metabolic defect with hepatic transplantation.
终末期肾病患者下肢近端皮肤坏死是钙化防御的典型表现，钙化防御是一种无法治疗、罕见且通常致命的坏死性皮肤综合征。1型原发性高草酸尿症（PH-1）通常在儿童期表现为复发性尿路结石。由于现在有酶学研究可用于确认代谢缺陷，一些成年特发性肾衰竭病例已被证明是由PH-1引起的。这些患者可能会出现血管草酸钙沉积，导致网状青斑和远端肢体血管功能不全。
我们描述了一名终末期肾衰竭患者，其下肢近端皮肤坏死提示钙化防御。皮肤活检标本显示血管内有草酸钙结晶，通过酶学方法确诊为PH-1。
该患者表明PH-1可能在成年期出现，并且在与终末期肾病相关的皮肤坏死情况下，可能会与钙化防御相混淆。诊断PH-1的重要性在于通过肝移植逆转潜在代谢缺陷从而实现长期生存的潜在能力。
