目的:轻链和重链沉积病(LHCDD)是一种罕见的单克隆免疫球蛋白沉积病(MIDD),和有限的临床数据可用来表征这种情况。我们描述了LHCDD的临床病理特征和结果。
方法:案例系列。
方法:13例经活检证实的LHCDD患者,2008年1月至2022年12月期间在两家中国医疗中心确诊。
结果:在描述的13例患者中,6个是男人,7个是女人,平均年龄52.6±8.0岁。患者出现高血压(76.9%),贫血(84.6%),血清肌酐升高(84.6%,血清肌酐中位数1.7mg/dL),蛋白尿(100%,平均尿蛋白3.0g/24h),肾病综合征(30.8%)和镜下血尿(76.9%)。血清免疫固定电泳显示11例(84.6%)患者的单克隆免疫球蛋白。11例(84.6%)患者血清游离轻链(FLC)比例异常,在有可用数据的10例患者中,有9例(90%)的重链/轻链(HLC)比率异常。5例患者被诊断为多发性骨髓瘤。对10例(76.9%)患者进行了结节性肾小球系膜硬化的组织学诊断。免疫荧光显示7例患者IgG亚类(γ-κ/γ-λ:4/3)沉积,5例患者中IgA(α-κ/α-λ:2/3)。6例患者接受了IgG亚类染色(γ1/γ2/γ3:3/2/1)。1例患者通过质谱证实了IgD-κ的沉积。在12名患者中,他们的数据中位数为26.5个月,11人接受化疗,1例接受保守治疗。一名患者死亡。三名(25%)患者进展为肾衰竭。在可评估血液和肾脏疾病进展的9例患者中,5人(56%)有血液学应答,1人(11%)有肾脏疾病改善.
结论:回顾性描述性研究,患者数量有限,大多数患者的UPEP或UIFE缺失。
结论:在这种情况下,LHCDD系列,单克隆IgG1-κ在肾组织中的轻链和重链沉积最常见。在有可评估数据的患者中,超过一半的患者有血液学反应,但肾脏反应并不常见.
OBJECTIVE: Light and heavy chain deposition disease (LHCDD) is a rare form of monoclonal immunoglobulin (Ig) deposition disease, and limited clinical data are available characterizing this condition. Here we describe the clinicopathological characteristics and outcomes of LHCDD.
METHODS: Case series.
METHODS: 13 patients with biopsy-proven LHCDD diagnosed between January 2008 and December 2022 at one of 2 Chinese medical centers.
RESULTS: Among the 13 patients described, 6 were men and 7 were women, with a mean age of 52.6±8.0 years. Patients presented with hypertension (76.9%), anemia (84.6%), increased serum creatinine concentrations (84.6%; median, 1.7mg/dL), proteinuria (100%; average urine protein, 3.0g/24h), nephrotic syndrome (30.8%), and microscopic hematuria (76.9%). Serum immunofixation electrophoresis showed monoclonal Ig for 11 patients (84.6%). Serum free light chain ratios were abnormal in 11 patients (84.6%), and heavy/light chain ratios were abnormal in 9 of 10 patients (90%) with available data. Five patients were diagnosed with multiple myeloma. A histological diagnosis of nodular mesangial sclerosis was made in 10 patients (76.9%). Immunofluorescence demonstrated deposits of IgG subclass in 7 patients (γ-κ, n=4; γ-λ, n=3) and IgA in 5 patients (α-κ, n=2; α-λ, n=3). Six patients underwent IgG subclass staining (γ1, n=3; γ2, n=2; γ3, n=1). The deposits of IgD-κ were confirmed by mass spectrometry in 1 patient. Among 12 patients for whom data were available during a median of 26.5 months, 11 received chemotherapy and 1 received conservative treatment. One patient died, and disease progressed to kidney failure in 3 (25%). Among the 9 patients evaluable for hematological and kidney disease progression, 5 (56%) had a hematologic response and 1 (11%) exhibited improvement in kidney disease.
CONCLUSIONS: Retrospective descriptive study, limited number of patients, urine protein electrophoresis or immunofixation electrophoresis test results missing for most patients.
CONCLUSIONS: In this case series of LHCDD, light and heavy chain deposition in kidney tissues were most frequent with monoclonal IgG1-κ. Among patients with evaluable data, more than half had a hematologic response, but a kidney response was uncommon.