Renal disease in adults with TSC2/PKD1 contiguous gene syndrome
Renal disease in adults with TSC2/PKD1 contiguous gene syndrome
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DOI：
10.1097/00000478-200202000-00006
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发表时间：
2002-02-01
影响因子：
5.6
通讯作者：
Eble, JN
中科院分区：
文献类型：
--
作者：
Martignoni, G;Bonetti, F;Eble, JN
结节性硬化症是一种常染色体显性遗传综合征，由TSC 1（9 q34）或TSC 2（16p13.3）缺失引起，其最常见的肾脏病变是肾囊肿和血管平滑肌脂肪瘤。上皮肿瘤不太常见。TSC 2基因与PKD 1相邻，PKD 1是常染色体显性多囊肾病的主要基因。最近，在患有结节性硬化综合征的严重肾囊肿的幼儿中描述了一种破坏TSC 2和PKD 1的缺失突变。这种疾病被称为TSC 2/PKD 1连续基因综合征。我们描述的病变切除肾脏的两个成年人与TSC 2/PDK 1连续基因综合征，在肾切除术的时间：一个31岁的男子和他的44岁的母亲。四个肾脏为增大的肾形肿块，由囊肿组成，囊肿内衬扁平、立方形或罕见的大的深嗜酸性上皮细胞。肾脏还包含许多典型的血管平滑肌脂肪瘤和罕见的肾小球内微小病变。在儿子的最大肿瘤是一个单型上皮样血管平滑肌脂肪瘤，在他的左肾盂壁有一个斑块状，HMB-45阳性局部病变的淋巴管平滑肌瘤病。这是第一次描述的肾脏病变的成人与遗传证实的TSC 2/PDK 1连续基因综合征。病理结果强调了在多囊肾病中进行组织学检查时彻底取样的重要性，并指出，即使在没有超声和肉眼血管平滑肌脂肪瘤证据的情况下，从囊性肾增大患者的活检材料中观察到血管平滑肌脂肪瘤也应该提示诊断为TSC 2/PKD 1邻近基因综合征。
The most common renal lesions of tuberous sclerosis complex, an autosomal-dominant syndrome resulting from losses of TSC1 (9q34) or TSC2 (16p13.3), are renal cysts and angiomyolipomas. Epithelial neoplasms are less common. The TSC2 gene lies adjacent to PKD1, the major gene responsible for autosomal-dominant polycystic kidney disease. Recently, a deletion mutation disrupting both TSC2 and PKD1 has been described in young children with tuberous sclerosis complex with severe renal cystic disease. This disease has been termed the TSC2/PKD1 contiguous gene syndrome. We describe the lesions in the resected kidneys of two adults with TSC2/PDK1 contiguous gene syndrome, at the time of the nephrectomies: a 31-year-old man and his 44-year-old mother. The four kidneys were enlarged reniform masses composed of cysts lined by flattened, cuboidal, or, infrequently, large deeply eosinophilic epithelial cells. The kidneys also contained numerous classic angiomyolipomas and rare intraglomerular microlesions. In the son the largest tumor was a monotypic epithelioid angiomyolipoma, In the wall of his left renal pelvis there was a plaque-shaped, HMB-45-positive localized lesion of lymphangioleio-myomatosis. This is the first description of the renal lesions in adults with genetically confirmed TSC2/PDK1 contiguous gene syndrome. The pathologic findings highlight the importance of thorough sampling for histology in polycystic kidney diseases and indicate that the observation of an angiomyolipoma in biopsy material from patients with enlarged cystic kidneys should suggest the diagnosis of TSC2/PKD1 contiguous gene syndrome, even in cases without ultrasonographic and macroscopic evidence of angiomyolipoma.