Kambham N, Markowitz G S, Appel G B, Kleiner M J, Aucouturier P, D'agati V D
Department of Pathology, Renal Pathology Laboratory, New York, NY, USA.
Am J Kidney Dis. 1999 May;33(5):954-62. doi: 10.1016/s0272-6386(99)70432-4.
A 45-year-old white woman was found to have microscopic hematuria during her annual physical examination. After a negative urologic workup, she returned 5 months later with nephrotic syndrome, renal insufficiency, and hypocomplementemia. Renal biopsy showed a nodular sclerosing glomerulopathy that could not be further characterized because of inadequate tissue for immunofluorescence. The patient returned 8 months later with chronic renal failure. A repeat renal biopsy showed deposits composed of immunoglobulin G (IgG) heavy chain and complement components C3 and C1 along glomerular, tubular, and vascular basement membranes, with negativity for kappa and lambda light chains, findings consistent with heavy chain deposition disease (HCDD). The heavy chain subclass was exclusively IgG3. Staining with monoclonal antibodies to epitopes of the constant domains of IgG heavy chain showed a CH1 deletion, indicating a truncated heavy chain. On review of the previously reported cases of HCDD, common clinical presentations include nephrotic syndrome, renal insufficiency, hematuria, and, in some cases, hypocomplementemia. In most patients, the hematologic disorder is mild, without overt myeloma. Light microscopy shows a nodular sclerosing glomerulopathy, and heavy chain deposits are detectable within basement membranes throughout the kidney by immunofluorescence and electron microscopy. There is no effective treatment for this condition, and virtually all patients progress to chronic renal failure.
一名45岁的白人女性在年度体检中被发现有镜下血尿。经过泌尿外科的检查为阴性后，5个月后她因肾病综合征、肾功能不全和补体降低而复诊。肾活检显示为结节性硬化性肾小球病，但由于免疫荧光检测的组织不足，无法进一步明确其特征。8个月后该患者出现慢性肾衰竭。再次肾活检显示沿肾小球、肾小管和血管基底膜有由免疫球蛋白G（IgG）重链以及补体成分C3和C1组成的沉积物，κ和λ轻链呈阴性，这些发现符合重链沉积病（HCDD）。重链亚类仅为IgG3。用针对IgG重链恒定区表位的单克隆抗体染色显示CH1缺失，表明为重链截短。回顾先前报道的HCDD病例，常见的临床表现包括肾病综合征、肾功能不全、血尿，在某些情况下还有补体降低。在大多数患者中，血液系统疾病较轻，无明显骨髓瘤。光镜显示为结节性硬化性肾小球病，通过免疫荧光和电子显微镜检查可在整个肾脏的基底膜内检测到重链沉积物。这种疾病没有有效的治疗方法，几乎所有患者都会进展为慢性肾衰竭。
