Noh Eu-Seon, Kim Min-Sun, Kim Chiwoo, Jeon Kyeongman, Kim Seonwoo, Cho Sung Yoon, Jin Dong-Kyu
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea.
Division of Pulmonary and Critical Care Medicine, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea.
J Pers Med. 2022 May 25;12(6):858. doi: 10.3390/jpm12060858.
Prader−Willi syndrome (PWS) is a rare genetic disorder characterized by an insatiable appetite that leads to morbid obesity. Previous studies reported health problems in adults with PWS. However, studies on younger adults are lacking, and there are no specific studies of endocrine and metabolic illness in this age group. We performed a retrospective cohort study of 68 individuals with PWS aged 19 to 34 years at Samsung Medical Center. The prevalence of endocrine and metabolic illnesses were compared with those in an age-, sex-, and BMI-matched healthy control group. Young adults with PWS had a higher prevalence of metabolic syndrome (35.3% vs. 4.4%), type 2 diabetes mellitus (50.0% vs. 5.4%), hypertension (30.8% vs. 16.1%), dyslipidemia (38.2% vs. 14.7%), decreased bone density (26.4% vs. 0.9%), and sleep apnea (32.3% vs. 4.4%) than controls (all p < 0.05). The PWS group that maintained recombinant human growth (rhGH) treatment in adulthood had a lower probability of having a BMI ≥ 30 at the last follow-up (odds ratio = 0.106 (0.012−0.948), p = 0.045). Endocrine and metabolic illnesses in individuals with PWS may have already started in the early teens; therefore, appropriate screening and early intervention are important. Better understanding of the natural history of PWS and age-related complications will lead to better-quality medical care for individuals with PWS.
普拉德-威利综合征（PWS）是一种罕见的遗传性疾病，其特征是食欲亢进，导致病态肥胖。先前的研究报道了患有PWS的成年人的健康问题。然而，针对年轻成年人的研究较少，且该年龄组尚无关于内分泌和代谢疾病的具体研究。我们在三星医疗中心对68名年龄在19至34岁的PWS患者进行了一项回顾性队列研究。将内分泌和代谢疾病的患病率与年龄、性别和体重指数匹配的健康对照组进行比较。患有PWS的年轻成年人代谢综合征（35.3% 对 4.4%）、2型糖尿病（50.0% 对 5.4%）、高血压（30.8% 对 16.1%）、血脂异常（38.2% 对 14.7%）、骨密度降低（26.4% 对 0.9%）和睡眠呼吸暂停（32.3% 对 4.4%）的患病率均高于对照组（所有p < 0.05）。成年后维持重组人生长激素（rhGH）治疗的PWS组在最后一次随访时BMI≥30的可能性较低（优势比 = 0.106（0.012 - 0.948），p = 0.045）。患有PWS的个体的内分泌和代谢疾病可能在青少年早期就已开始；因此，适当的筛查和早期干预很重要。更好地了解PWS的自然病史和与年龄相关的并发症将为患有PWS的个体带来更高质量的医疗护理。
