Department of Pediatics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, South Korea.
Orphanet J Rare Dis. 2017 Aug 30;12(1):146. doi: 10.1186/s13023-017-0702-5.
Prader-Willi syndrome (PWS) is often related to severe obesity and type-2 diabetes mellitus (T2DM). However, few studies, and none in Korea, have examined prevalence of T2DM and other variables in PWS. The aim of this study was to identify the prevalence and associated risk factors for T2DM in Korean patients with PWS.
We performed a retrospective cohort study of the 84 PWS patients aged 10 or over (10.3-35.8 years of age) diagnosed with PWS at Samsung Medical Center from 1994 to 2016. We estimated occurrence of T2DM according to age (10-18 years versus >18 years), body mass index (BMI), genotype, history of growth hormone therapy, homeostasis model of assessment-insulin resistance (HOMA-IR), and the presence of dyslipidemia, hypogonadism, or central precocious puberty. Additionally, we investigated cutoff values of risk factors for development of T2DM.
Twenty-nine of a total 211 patients, diagnosed with PWS over the study period, were diagnosed as having T2DM (13.7%, mean age 15.9 ± 3.6 years). In the >18 years group, obesity, HOMA-IR, and presence of dyslipidemia, hypogonadism, or central precocious puberty were associated with the occurrence of T2DM in univariate analysis. In multivariate logistic regression analysis, only obesity (p = 0.001) and HOMA-IR (p < 0.001) were significant predictive factors for T2DM. Based on the receiver operating a characteristic curve analysis, the cutoff values of HOMA-IR and BMI for predicting T2DM were >2.7 and >28.49 kg/m, respectively. Of the 29 patients, seven had ≥1 microvascular complication, with non-proliferative diabetic retinopathy in 6 of 7 cases. Advanced age and HOMA-IR were positively correlated with diabetic microvascular complications (p < 0.05, Spearman correlation coefficient 0.393 and 0.434, respectively).
The prevalence of diabetes in Korean PWS was similar to that in previous results. BMI and HOMA-IR were strong predictive factors for the development of T2DM in PWS. We specifically suggest the regular monitoring of glucose homeostasis parameters through a detailed settlement of ethnically specific cutoff values for BMI and HOMA-IR in PWS to prevent progression of T2DM and diabetic microvascular complications.
普拉德-威利综合征（PWS）常与严重肥胖和 2 型糖尿病（T2DM）有关。然而，很少有研究，也没有在韩国进行过，研究 PWS 患者 T2DM 的患病率和其他变量。本研究的目的是确定韩国 PWS 患者 T2DM 的患病率和相关危险因素。
我们对 1994 年至 2016 年在三星医疗中心诊断为 PWS 的 84 名年龄在 10 岁或以上（10.3-35.8 岁）的 PWS 患者进行了回顾性队列研究。我们根据年龄（10-18 岁与>18 岁）、体重指数（BMI）、基因型、生长激素治疗史、稳态模型评估-胰岛素抵抗（HOMA-IR）以及血脂异常、性腺功能减退或中枢性性早熟的存在来估计 T2DM 的发生情况。此外，我们还研究了 T2DM 发展的危险因素的临界值。
在研究期间，211 名被诊断为 PWS 的患者中，有 29 名被诊断为 T2DM（13.7%，平均年龄 15.9±3.6 岁）。在>18 岁组中，肥胖、HOMA-IR 以及血脂异常、性腺功能减退或中枢性性早熟的存在与 T2DM 的发生在单因素分析中相关。在多变量逻辑回归分析中，只有肥胖（p=0.001）和 HOMA-IR（p<0.001）是 T2DM 的显著预测因素。基于受试者工作特征曲线分析，HOMA-IR 和 BMI 预测 T2DM 的截断值分别为>2.7 和>28.49 kg/m2。在 29 名患者中，有 7 名患有≥1 种微血管并发症，6 例为非增殖性糖尿病视网膜病变。年龄较大和 HOMA-IR 与糖尿病微血管并发症呈正相关（p<0.05，Spearman 相关系数分别为 0.393 和 0.434）。
韩国 PWS 糖尿病的患病率与以往结果相似。BMI 和 HOMA-IR 是 PWS 中 T2DM 发展的强有力预测因素。我们特别建议通过详细确定与种族特异性 BMI 和 HOMA-IR 相关的临界值，定期监测葡萄糖稳态参数，以预防 T2DM 和糖尿病微血管并发症的进展。
