Institute of Health and Sports, College of Health and Biomedicine, Victoria University, P.O. Box 14428, Melbourne, VIC 8001, Australia.
Genes (Basel). 2019 Jun 12;10(6):447. doi: 10.3390/genes10060447.
This paper reports on the successful management of hyperphagia (exaggerated hunger) in a 14yr-old female with Prader-Willi syndrome (PWS). This child was diagnosed with PWS, (maternal uniparental disomy) at 18 months due to developmental delay, hypertonia, weight gain and extreme eating behaviour. Treatment of a supplement for appetite suppression commenced at 2 years of age. This single-case records ingestion of an Indian cactus succulent extract (CFE) over 12 years, resulting in anecdotal satiety, free access to food and management of weight within normal range. CFE was administered in a drink daily and dose was slowly escalated by observation for appetite suppression. Rigorous testing determined blood count, vitamins, key minerals, HbA1c, IGF-1 and function of the liver and thyroid all within normal range. The report suggests a strategy for early intervention against hyperphagia and obesity in PWS. This case was the instigator of the successful Australian PWS/CFE pilot and though anecdotal, the adolescent continues to ingest CFE followed by paediatricians at the Royal Children's Hospital Melbourne, Victoria, Australia. Future clinical trials are worth considering, to determine an appropriate dose for individuals with PWS.
本文报告了一例成功治疗普拉德-威利综合征(PWS)患者过度饥饿(食欲亢进)的案例。该患者因发育迟缓、肌张力高、体重增加和极度进食行为,于 18 个月时被诊断为 PWS(母源单亲二体)。2 岁时开始使用食欲抑制剂进行治疗。该患者连续 12 年摄入一种来自印度的仙人掌提取物(CFE),以获得饱腹感,可自由进食,并将体重控制在正常范围内,这一案例纯属偶然。CFE 每天制成饮料服用,通过观察食欲抑制情况来逐渐增加剂量。严格的检测显示,患者的血常规、维生素、关键矿物质、HbA1c、IGF-1 以及肝、甲状腺功能均在正常范围内。该报告提出了一种针对 PWS 患者早期干预食欲亢进和肥胖的策略。这一案例引发了澳大利亚 PWS/CFE 试点项目的成功,并在澳大利亚维多利亚州墨尔本皇家儿童医院,由儿科医生对该名青少年继续摄入 CFE 进行跟踪。未来值得考虑进行临床试验,以确定 PWS 患者的合适剂量。