An epidemiological study of renal pathology in tuberous sclerosis complex
An epidemiological study of renal pathology in tuberous sclerosis complex
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DOI：
10.1111/j.1464-410x.2004.05046.x
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发表时间：
2004-10-01
影响因子：
4.5
通讯作者：
Osborne, JP
中科院分区：
文献类型：
--
作者：
O'Callaghan, FJ;Noakes, MJ;Osborne, JP
目的报告结节性硬化症（TSC）患者肾脏症状和并发症的频率，描述基于人群样本的肾脏超声表现，并调查肾出血史和超声检查发现的肾脏病变之间的关系。179名TSC患者被确定为生活在英格兰南部的威塞克斯地区。患者在家中接受采访和检查，以了解是否存在肾脏症状或肾脏并发症史。肾脏超声检查用于同意的患者在他们的homes. TreatmentsThere是一个肾脏并发症的历史，在16（9%）的患者; 149同意采访和检查，19给了肾脏症状的历史，在过去的一年; 124肾超声检查; 86（69%）有肾血管平滑肌脂肪瘤和37（30%）肾囊肿。大病灶（直径>3 cm）与有症状的出血史密切相关，尽管6岁的小angiomyolipoma.CONCLUSIONSThe形成angiomyolipoma TSC的儿童发生了显著出血。多囊性肾病、肾癌和肾衰竭虽然罕见，但在TSC中发生。大多数血管平滑肌脂肪瘤患者既无并发症也无症状。在发生这些病变的风险方面，两性之间没有明显差异。虽然在非常年轻的人中不常见，但在青春期后，年龄和患肾血管平滑肌脂肪瘤的风险之间没有可识别的关系。出血倾向于发生在大病灶（>3 cm），但迄今为止大多数此类患者仍无症状。
OBJECTIVESTo report the frequency of renal symptoms and complications of patients with tuberous sclerosis complex (TSC), to describe the ultrasonographic appearance of the kidneys in a population-based sample, and to investigate the relationship between a history of renal haemorrhage and renal lesions identified by ultrasonography.PATIENTS AND METHODSAs part of an epidemiological study, 179 patients with TSC were identified as living in the Wessex Region in the South of England. Patients were interviewed and examined in their homes, to elicit the presence of renal symptoms or a history of renal complications. Renal ultrasonography was used in consenting patients in their homes.RESULTSThere was a history of renal complications in 16 (9%) patients; 149 consented to interview and examination, and 19 gave a history of renal symptoms in the previous year; 124 had renal ultrasonography; 86 (69%) had renal angiomyolipomas and 37 (30%) had renal cysts. Large lesions (>3 cm in diameter) were strongly associated with a history of symptomatic bleeding, although significant haemorrhage occurred in a 6-year-old child with small angiomyolipomas.CONCLUSIONSThe formation of angiomyolipoma in TSC is common. Polycystic kidney disease, renal carcinoma and renal failure, although rare, occur in TSC. Most patients with angiomyolipomas have neither complications nor symptoms. There was no appreciable difference between the sexes in the risk of developing these lesions. Although less commonly seen in the very young, there is no identifiable relationship after adolescence between age and the risk of having a renal angiomyolipoma. Bleeding tends to occur from large lesions (>3 cm) but most such patients have remained asymptomatic to date.