Chan T M, Chan K W
Department of Medicine, Queen Mary Hospital, Pokfulam, Hong Kong.
Am J Kidney Dis. 1998 May;31(5):E4. doi: 10.1016/s0272-6386(98)70066-6.
Fibrillary/immunotactoid glomerulopathy is characterized by organized glomerular deposition of extracellular, nonbranching, immunoglobulin-derived microfibrils, which is not associated with systemic diseases such as amyloidosis, cryoglobulinemia, or monoclonal gammopathy. This is an uncommon condition with an obscure etiology and accounts for approximately 1% of primary glomerular diseases in white populations. We report the first case of familial fibrillary/immunotactoid glomerulopathy affecting a brother and a sister in a Chinese family. Both patients presented with heavy proteinuria, which improved transiently on treatment with prednisolone and cyclophosphamide. Human lymphocyte antigen typing for the siblings showed no haplotype association. Despite the generally poor renal prognosis reported in the literature, with 50% of patients reaching end-stage renal failure within 2 to 4 years, both patients had relative preservation of renal function (creatinine clearance from 79 to 76 mL/min/1.73 m2 after 2 years in one patient and from 111 to 99 mL/min/1.73 m2 after 3 years in the other). Our observations show that fibrillary/immunotactoid glomerulopathy can present as a familial condition. Compared with sporadic cases, patients with familial fibrillary/immunotactoid glomerulopathy may have a more favorable renal prognosis.
纤维样/免疫触须样肾小球病的特征是细胞外、无分支、免疫球蛋白衍生的微纤维在肾小球内呈有序沉积，且与淀粉样变性、冷球蛋白血症或单克隆丙种球蛋白病等全身性疾病无关。这是一种病因不明的罕见病症，在白种人群中约占原发性肾小球疾病的1%。我们报告了中国家庭中首例影响一对兄妹的家族性纤维样/免疫触须样肾小球病。两名患者均表现为大量蛋白尿，使用泼尼松龙和环磷酰胺治疗后蛋白尿短暂改善。对这对兄妹进行的人类淋巴细胞抗原分型显示无单倍型关联。尽管文献报道该病总体肾预后较差，50%的患者在2至4年内发展至终末期肾衰竭，但两名患者的肾功能均相对保留（一名患者2年后肌酐清除率从79降至76 mL/min/1.73 m²，另一名患者3年后从111降至99 mL/min/1.73 m²）。我们的观察结果表明，纤维样/免疫触须样肾小球病可呈家族性发病。与散发病例相比，家族性纤维样/免疫触须样肾小球病患者的肾预后可能更有利。
