目的:本研究的主要目的是探讨结节性硬化症(TSC)慢性肾脏病(ESRD)患者的临床特征,并强调终末期肾脏病(ESRD)患者与慢性肾脏病早期患者之间临床特征的差异。
方法:这种多中心,回顾性研究包括来自七个东南欧国家的48例患者的数据(阿尔巴尼亚,波斯尼亚和黑塞哥维那,克罗地亚,希腊,黑山,塞尔维亚,斯洛文尼亚)在2020年2月至8月期间。研究人员从地方和国家肾病和神经学登记处收集数据,并在随访期间提供病史的临床和实验室结果。
结果:本研究纳入48例患者,中位年龄为32.3岁(范围,18-46岁),女性占主导地位(60.45%)。慢性肾脏病(CKD)确诊患者占患者总数的百分比为66.90%,以39.6%的终末期肾病发展。导致慢性肾脏疾病的最普遍的肾脏病变是血管平滑肌脂肪瘤(AMLs),占76.6%,而42.6%的患者存在多个肾囊肿。43%的患者进行了肾切除术,而mTOR抑制剂用于18例患者(37.5%)。大多数患者有结节性硬化症的皮肤表现-83.30%的患者有色素减少的皮肤病变,68.80%有血管纤维瘤。终末期肾病(ESRD)的多发性视网膜结节性错构瘤和“五彩纸屑”皮肤病变比慢性肾病早期患者更常见(分别为p-0.033和0.03)。
结论:我们的研究还表明,终末期肾病(ESRD)患者的视网膜错构瘤和“纸屑”皮肤病变比其他慢性肾病(CKD)患者更常见。使用mTOR抑制剂还可以减少结节性硬化症的并发症和相关并发症的数量,如皮肤病学表现和视网膜错构瘤,这在慢性肾病的终末期更为常见。
OBJECTIVE: The main purpose of this study is to explore characteristics of patients with chronic kidney disease in tuberous sclerosis (TSC) and to underline differences in clinical characteristics between end-stage renal disease (ESRD) patients and patients in earlier stages of chronic kidney disease.
METHODS: This multicentric, retrospective study included data for 48 patients from seven South-Eastern European countries (Albania, Bosnia and Herzegovina, Croatia, Greece, Montenegro, Serbia, Slovenia) in the period from February to August 2020. Researchers collected data from local and national nephrological and neurological registries and offered clinical and laboratory results from medical histories in follow-up periods.
RESULTS: This study enrolled 48 patients with a median age of 32.3 years (range, 18-46 years), and predominant female gender (60.45%). The percentage of patients with chronic kidney disease (CKD) diagnosis of the total number of patients was 66.90%, with end-stage renal disease development in 39.6%. The most prevalent renal lesions leading to chronic kidney disease were angiomyolipomas (AMLs) in 76.6%, while multiple renal cysts were present in 42.6% of patients. Nephrectomy was performed in 43% of patients, while the mTOR inhibitors were used in 18 patients (37.5%). The majority of patients had cutaneous manifestations of tuberous sclerosis-83.30% had hypomelanotic cutaneous lesions, and 68.80% had angiofibromas. Multiple retinal nodular hamartomas and \"confetti\" skin lesions were more frequent in end-stage renal disease (ESRD) than in patients with earlier stages of chronic kidney disease (p-0.033 and 0.03, respectively).
CONCLUSIONS: Our study has also shown that retinal hamartomas and \"confetti\" skin lesions are more frequent in end-stage renal diseases (ESRD) patients than in other chronic kidney disease (CKD) patients. Usage of mTOR inhibitors can also reduce the number of complications and associated with tuberous sclerosis, such as dermatological manifestations and retinal hamartoma, which are more common in the terminal stage of chronic kidney disease.