Department of Clinical Immunology, Saint-Louis Hospital, Assistance Publique-Hôpitaux de Paris, INSERM UMRS_1165, Paris Diderot University, Sorbonne Paris Cité, Paris, France.
Department of Pathology, Saint-Louis Hospital, Assistance Publique-Hôpitaux de Paris, INSERM UMRS_1165, Paris Diderot University, Sorbonne Paris Cité, Paris, France.
J Dermatol. 2018 Oct;45(10):1211-1215. doi: 10.1111/1346-8138.14544. Epub 2018 Jul 23.
Heavy-chain deposition disease (HCDD) is characterized by tissue deposits of a truncated monoclonal immunoglobulin heavy-chain (HC) on basement membranes. Diagnosis is usually made on kidney biopsy, showing nodular glomerulosclerosis with HC deposits which can be missed, resulting in delay in diagnosis. We report four γ1-HCDD patients presenting with cutis laxa, hypocomplementemia and hypoalbuminemia. In two patients, unsuspected HCDD was revealed by cutis laxa and diagnosis was made on skin biopsy. In all patients, serum albumin and complement represented surrogate markers for disease monitoring. In γ-HCDD, extrarenal manifestations such as cutis laxa may precede renal injury and are precious tools for an early diagnosis, which is crucial to avoid progression of irreversible renal and elastic tissue damage.
重链沉积病（HCDD）的特征是组织基底膜上存在截断的单克隆免疫球蛋白重链（HC）沉积。诊断通常通过肾活检进行，表现为结节性肾小球硬化症和 HC 沉积，但可能会漏诊，导致诊断延迟。我们报告了 4 例γ1-HCDD 患者，表现为皮肤松弛症、低补体血症和低白蛋白血症。在 2 例患者中，皮肤松弛症揭示了未被怀疑的 HCDD，诊断是通过皮肤活检做出的。在所有患者中，血清白蛋白和补体是疾病监测的替代标志物。在γ-HCDD 中，皮肤松弛症等肾外表现可能先于肾损伤出现，是早期诊断的宝贵工具，这对于避免不可逆转的肾和弹性组织损伤的进展至关重要。
