PDF(Pubmed)
Abstract：
Prader-Willi syndrome (PWS) is a rare, complex, genetic disorder characterized by hyperphagia, hypotonia, delayed psychomotor development, low muscle mass and hypothalamic dysfunction. Adults with PWS often have obesity, hypertension and type 2 diabetes mellitus (DM2), known risk factors for cardiovascular disease (CVD) and chronic kidney disease (CKD). Early symptoms of CVD and CKD may be masked by intellectual disability and inability to express physical complaints. Furthermore, kidney diseases are often asymptomatic. Therefore, renal and cardiovascular disease might be missed in patients with PWS. Microalbuminuria is an early sign of microvascular damage in the kidneys and other vascular beds. Therefore, we screened our adult PWS cohort for the presence of elevated urinary albumin and (micro)albuminuria.
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.
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.
摘要：
普拉德-威利综合征（PWS）是一种罕见的，复杂，以饮食过多为特征的遗传性疾病，低张力,精神运动发育延迟，低肌肉质量和下丘脑功能障碍。患有PWS的成年人经常患有肥胖症，高血压和2型糖尿病（DM2），心血管疾病（CVD）和慢性肾脏疾病（CKD）的已知危险因素。CVD和CKD的早期症状可能被智力障碍和无法表达身体不适所掩盖。此外，肾脏疾病通常无症状。因此,PWS患者可能会错过肾脏和心血管疾病。微量白蛋白尿是肾脏和其他血管床微血管损伤的早期征兆。因此,我们对成人PWS队列进行了尿白蛋白升高和(微量)白蛋白尿筛查.
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。
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。
