Radisavljević Snezana, Peco-Antić Amira, Kotur-Stevuljević Jelena, Savić Olivera
Srp Arh Celok Lek. 2010 Mar-Apr;138(3-4):204-9. doi: 10.2298/sarh1004204r.
Balkan endemic nephropathy (BEN) is a familial chronic progressive tubulointerstitial disease of unknown aetiology that occurs with high prevalence in endemic rural environments of Serbia, Bosnia and Herzegovina, Croatia, Bulgaria and Romania. It has been documented only in adults.
The aim of this study was to examine clinical markers of BEN in children and adolescent offspring of BEN patients.
Prospective clinical trial involved two groups of children and adolescents: I consisted of 30 offspring of BEN patients and II of 29 offspring of non-BEN dialysis patients, both of them living in the same South Morava region of Serbia. All of them were healthy at the time of the investigation, not receiving any drugs. The study included personal and family history, physical examination, comprehensive laboratory analyses and renal ultrasound. Blood pressure (BP) was determined by using casual BP and 24 h ABPM in subjects older than 5 years. Urinary proteins were investigated by analysing microalbumin, alfa 1 microglobulin, beta 2 microglobulin and SDS-PAGE electrophoresis. GFR was measured by estimated creatinine clearance and by serum Cystatin C concentrations.
There were no statistically significant differences in age, gender, history of urinary tract infections or functional voiding disorders between these two groups. All of the studied subjects had normal BP and GFR. Renal ultrasound was abnormal only in BEN offspring (6.66%) as well as increased urine concentrations of microalbumin (3.3%), alpha 1 microglobulin (10%) and beta 2 microglobulin (13.3%) while low molecular protein (<66,000 D) was prevalent in BEN compared with non-BEN offspring (21.43% vs. 3.7%).
Renal abnormalities in offspring of BEN patients may be an early marker of BEN.This has to be confirmed in long term follow-up of a greater number of BEN paediatric offspring.
巴尔干地方性肾病（BEN）是一种病因不明的家族性慢性进行性肾小管间质性疾病，在塞尔维亚、波斯尼亚和黑塞哥维那、克罗地亚、保加利亚和罗马尼亚的地方性农村环境中高发。该病仅见于成年人。
本研究旨在检测BEN患者儿童及青少年后代的BEN临床标志物。
前瞻性临床试验涉及两组儿童和青少年：第一组由30名BEN患者的后代组成，第二组由29名非BEN透析患者的后代组成，两组均生活在塞尔维亚的南莫拉瓦地区。所有研究对象在调查时均健康，未服用任何药物。研究内容包括个人和家族史、体格检查、全面的实验室分析和肾脏超声检查。5岁以上受试者采用偶测血压和24小时动态血压监测（ABPM）测定血压。通过分析微量白蛋白、α1微球蛋白、β2微球蛋白和SDS-PAGE电泳来检测尿蛋白。通过估算肌酐清除率和血清胱抑素C浓度来测量肾小球滤过率（GFR）。
两组在年龄、性别、尿路感染史或功能性排尿障碍方面无统计学显著差异。所有研究对象的血压和GFR均正常。肾脏超声检查仅在BEN患者后代中出现异常（6.66%），同时微量白蛋白（3.3%）、α1微球蛋白（10%）和β2微球蛋白（13.3%）的尿浓度升高，而与非BEN患者后代相比，低分子蛋白（<66,000 D）在BEN患者后代中更为普遍（21.43%对3.7%）。
BEN患者后代的肾脏异常可能是BEN的早期标志物。这需要在更多BEN患儿后代的长期随访中得到证实。
