Cockerell Ine, Guenin Michel, Heimdal Ketil, Bjørnvold Marit, Selmer Kaja K, Rouvière Olivier
National Centre for Rare Epilepsy-Related Disorders, Department of Rare Disorders and Disabilities, Oslo University Hospital, Oslo, Norway.
Department of Urinary and Vascular Imaging, Hôpital Edouard Herriot, Lyon, France.
Urology. 2017 Jun;104:70-76. doi: 10.1016/j.urology.2017.02.023. Epub 2017 Feb 21.
To estimate the prevalence of renal angiomyolipomas (AMLs) and AML-related bleedings among patients with tuberous sclerosis complex and to gather information about associated treatments.
A questionnaire survey was undertaken by the French Reference Centre for Tuberous Sclerosis Complex and distributed through university hospitals and the patients' association (2009-2011). The questionnaire was then distributed to patients registered by the Norwegian National Centre for Rare Epilepsy-Related Disorders (2013-2014). Risk of bleeding was estimated by Kaplan-Meier analysis.
We included 357 patients (France, n = 257; Norway, n = 100); 189 (54%) reported having AMLs, 111 (32%) reported not having AMLs, and 50 (14%) reported not knowing whether they had AMLs. Twenty-five patients (France, n = 19; Norway, n = 6) reported that they have had bleeding. Age at first bleeding (known in 22 patients) was 27.6 ± 8.5 years. Fifteen patients (France, n = 11; Norway, n = 4) experienced first bleeding between 20 and 30 years. Bleeding-free survival was similar in France and Norway (P = .471). The bleeding-free survival rate at 72 years was 81% (95% confidence interval: 68-89) in the overall population and 66% (95% confidence interval: 43-82) in patients with AMLs. Bleeding treatment (known in 24 patients) consisted of conservative measures (n = 9), embolization (n = 8), nephrectomy (n = 4), embolization and nephrectomy (n = 2), or partial nephrectomy (n = 1). Fifteen French patients reported prophylactic treatment. In Norway, this information was known only in patients with renal bleeding and was reported in two.
Fifty-four percent of the patients reported having AMLs and 7% (25/357) reported bleeding. Sixty-eight percent of first bleedings occurred between 20 and 30 years. Bleedings were managed conservatively in 38% of the patients and 62% needed active treatment.
评估结节性硬化症患者肾血管平滑肌脂肪瘤（AML）的患病率及AML相关出血情况，并收集相关治疗信息。
法国结节性硬化症参考中心开展问卷调查（2009 - 2011年），并通过大学医院和患者协会进行发放。随后该问卷发放给挪威国家罕见癫痫相关疾病中心登记的患者（2013 - 2014年）。采用Kaplan - Meier分析评估出血风险。
共纳入357例患者（法国257例，挪威100例）；189例（54%）报告患有AML，111例（32%）报告未患AML，50例（14%）报告不知自己是否患有AML。25例患者（法国19例，挪威6例）报告曾发生出血。首次出血年龄（22例已知）为27.6±8.5岁。15例患者（法国11例，挪威4例）在20至30岁之间首次出血。法国和挪威的无出血生存率相似（P = 0.471）。总体人群72岁时的无出血生存率为81%（95%置信区间：68 - 89），AML患者为66%（95%置信区间：43 - 82）。出血治疗（24例已知）包括保守治疗（9例）、栓塞治疗（8例）、肾切除术（4例）、栓塞加肾切除术（2例）或部分肾切除术（1例）。15例法国患者报告接受了预防性治疗。在挪威，仅在有肾出血的患者中了解到该信息，有2例报告。
54%的患者报告患有AML，7%（25/357）报告有出血。68%的首次出血发生在20至30岁之间。38%的患者出血采用保守治疗，62%的患者需要积极治疗。
