Tuttle S E, Sharma H M, Bay W, Hebert L
Arch Pathol Lab Med. 1987 Aug;111(8):726-31.
Five members of a family (four brothers and their father) were found to have proteinuria and microhematuria. One of the affected brothers developed chronic renal failure. Although a renal biopsy was never performed, this brother has subsequently received a renal transplant from a clinically unaffected sister. Renal biopsy was performed on four of the siblings (three brothers and the sister). Renal tissue from all three brothers who underwent biopsy showed similar glomerular lesions, characterized by striking cloverleaf expansion of glomerular lobules by an acellular hyaline material and segmental mesangial cell proliferation. Electron microscopy showed massive mesangial and subendothelial deposits and occasional areas of glomerular basement membrane splitting with round inclusions. The renal biopsy specimen of the sister was normal on light and electron microscopy and negative for immunoglobulins and complement on immunofluorescent staining. Immunofluorescence microscopy on one of the male siblings was negative for immunoglobulins and complement. No other physical or serologic abnormalities could be established. To our knowledge, this is a unique form of familial glomerulopathy that has not been previously described.
一个家族的五名成员（四兄弟及其父亲）被发现有蛋白尿和微量血尿。其中一名患病兄弟发展为慢性肾衰竭。尽管从未进行过肾活检，但这名兄弟随后接受了来自临床上未受影响的妹妹的肾移植。对四名兄弟姐妹（三兄弟和妹妹）进行了肾活检。接受活检的所有三兄弟的肾组织显示出相似的肾小球病变，其特征是无细胞透明物质使肾小球小叶呈显著的三叶草样扩张以及节段性系膜细胞增殖。电子显微镜检查显示大量系膜和内皮下沉积物，以及偶尔出现的肾小球基底膜分裂伴圆形包涵体的区域。妹妹的肾活检标本在光镜和电镜下均正常，免疫荧光染色显示免疫球蛋白和补体均为阴性。其中一名男性兄弟姐妹的免疫荧光显微镜检查显示免疫球蛋白和补体均为阴性。未发现其他身体或血清学异常。据我们所知，这是一种以前未被描述过的独特的家族性肾小球病形式。
