We retrospectively collected anthropometric measurements, blood pressure, medical history, medication use, urine dipstick and biochemical measurements form electronic patient files. In addition, we performed a systematic literature review on kidney disease in PWS.
We included 162 adults with genetically confirmed PWS (56% male, median age 28 years), of whom 44 (27%) had DM2. None had known CVD. All subjects had normal estimated glomerular filtration rate (eGFR) according to non-PWS reference intervals. Elevated urinary albumin or (micro)albuminuria was present in 28 (18%); 19 out of 75 (25%) had an increased urinary albumin-to-creatinine ratio (UACR) and 10 out of 57 (18%) had an increased urinary protein-to-creatinine ratio. Elevated urinary albumin was present at a young age (median age 26 (IQR 24-32) years) and was associated with an significantly higher BMI and LDL-cholesterol levels and higher prevalence of DM2, hypertension and dyslipidemia than those with normal UACR (p=0.027, p=0.019, p<0.001, p<0.001, p=0.011 and respectively).
Upon screening, one in every five adults with PWS had increased urinary albumin or (micro)albuminuria, early signs of microvascular disease. All had normal eGFR, according to non-PWS reference intervals, and none had a formal diagnosis of CVD. As muscle mass is low in PWS, creatinine levels and eGFR may be spuriously normal. Urinalysis in this patient group can be used as a screening tool for microvascular (kidney) disease. We propose an algorithm for the detection and management of microvascular disease in adults with PWS.
我们回顾性地收集了人体测量,血压,病史,药物使用,尿液试纸和生化测量形成电子病人档案。此外,我们对PWS中的肾脏疾病进行了系统的文献综述.
我们包括162名患有基因确认的PWS的成年人(56%为男性,中位年龄28岁),其中44人(27%)患有DM2。没有人知道CVD。根据非PWS参考间隔,所有受试者具有正常的估计肾小球滤过率(eGFR)。28例(18%)出现尿白蛋白或(微量)白蛋白尿升高;75例中有19例(25%)的尿白蛋白与肌酐比率(UACR)增加,57例中有10例(18%)的尿白蛋白与肌酐比率增加。与正常UACR患者相比,尿白蛋白升高的年龄较小(中位年龄26(IQR24-32)岁),并且与BMI和LDL-胆固醇水平显着升高以及DM2,高血压和血脂异常的患病率更高相关(分别为p=0.027,p=0.019,p<0.001,p<0.001,p=0.011)。
筛选时,每五个患有PWS的成年人中就有一个尿白蛋白或(微量)白蛋白尿增加,微血管疾病的早期迹象。所有的eGFR都正常,根据非PWS参考间隔,没有人被正式诊断为CVD。由于PWS的肌肉质量很低,肌酐水平和eGFR可能是正常的。该患者组中的尿液分析可用作微血管(肾脏)疾病的筛查工具。我们提出了一种用于检测和管理PWS成人微血管疾病的算法。