Cockerell I, Guenin M, Heimdal K, Bjørnvold M, Selmer K K, Rouvière O
Department of Rare Disorders and Disabilities, Oslo University Hospital, National Centre for Rare Epilepsy-Related Disorders, Pb 4950, Nydalen, 0424, Oslo, Norway.
Department of Urinary and Vascular Imaging, Hôpital Edouard Herriot, Lyon, France.
BMC Nephrol. 2018 Feb 13;19(1):39. doi: 10.1186/s12882-018-0835-3.
Renal angiomyolipomas (AMLs) are a major clinical feature in patients with tuberous sclerosis complex (TSC). Spontaneous bleeding can be life threatening, and appropriate information and proper surveillance and management are important to limit morbidity and mortality. Because TSC is a rare disease, patients are at risk of suboptimal medical management. Our aim was to investigate patients' and parents' knowledge about renal angiomyolipomas (AMLs) in Tuberous Sclerosis Complex (TSC) and to identify current routines for renal follow-up.
A questionnaire survey was initiated by the French Reference Centre on TSC. It was distributed in France through university hospitals and the patients' association (2009-2011), and to patients registered by the Norwegian National Centre for Rare Epilepsy-Related Disorders (2013-2014). Contingency tables with Chi-Square test for independence (with Yates Continuity Correction) and Pearson-Chi-Square value were used for correlation statistics.
We included 357 patients (France, n=257; Norway n=100). Most participants knew that TSC is associated with AMLs. However, 42 % did not know about the risk of AMLrelated bleeding, and 37 % had been informed about the risk of bleeding only after the age of 15 years. Furthermore, 14 % did not know whether they themselves or their child had AMLs. Patients had less knowledge than parents. Medical consultations and patient associations were the main sources of information. Among 30 % of patients, renal imaging was not received at all, or not conducted every 1-3 years, as recommended by current guidelines. Regular imaging was more frequent in patients with AMLs < 15 years, than in patients with AMLs ≥ 15 years. Ultrasound was the most frequently used imaging modality.
Knowledge of renal AML in TSC patients and their parents was lower than expected, and follow-up by renal imaging was suboptimal for a substantial proportion of patients. Patients and parents should be informed about the risk and symptoms of renal bleeding, at the latest when the patient is 15 years. Monitoring the growth of AMLs should be standardized to comply with guidelines. Transition between adolescence and adulthood is a high-risk period and ensuring appropriate follow-up at this time is particularly important.
肾血管平滑肌脂肪瘤（AML）是结节性硬化症（TSC）患者的主要临床特征。自发性出血可能危及生命，提供适当的信息以及进行恰当的监测和管理对于降低发病率和死亡率至关重要。由于TSC是一种罕见疾病，患者存在医疗管理欠佳的风险。我们的目的是调查患者及其父母对结节性硬化症（TSC）中肾血管平滑肌脂肪瘤（AML）的了解情况，并确定当前肾脏随访的常规做法。
由法国TSC参考中心发起问卷调查。该问卷于2009 - 2011年在法国通过大学医院和患者协会进行分发，并于2013 - 2014年分发给挪威国家罕见癫痫相关疾病中心登记的患者。使用带有独立性卡方检验（采用耶茨连续性校正）和皮尔逊卡方值的列联表进行相关性统计。
我们纳入了357例患者（法国257例；挪威100例）。大多数参与者知道TSC与AML有关。然而，42%的人不知道AML相关出血的风险，37%的人在15岁之后才被告知出血风险。此外，14%的人不知道他们自己或他们的孩子是否患有AML。患者比父母了解的知识更少。医疗咨询和患者协会是主要的信息来源。在30%的患者中，根本没有接受肾脏成像检查，或者没有按照当前指南的建议每1 - 3年进行一次检查。AML小于15岁的患者比AML≥15岁的患者更频繁地进行定期成像检查。超声是最常用的成像方式。
TSC患者及其父母对肾AML的了解低于预期，并且相当一部分患者的肾脏成像随访情况欠佳。应最晚在患者15岁时告知患者及其父母肾脏出血的风险和症状。应规范对AML生长情况的监测以符合指南要求。青春期到成年期的过渡是一个高危时期，此时确保适当的随访尤为重要。
