Kim Yoo-Mi, Lee Yeoun Joo, Kim Soo Yeon, Cheon Chong Kun, Lim Han Hyuk
Department of Pediatrics, Chungnam National University Hospital, Chungnam National College of Medicine, Daejeon, Korea.
Department of Pediatrics, Pusan National University Children's Hospital, Pusan National College of Medicine, Yangsan, Korea.
Ann Pediatr Endocrinol Metab. 2020 Mar;25(1):52-56. doi: 10.6065/apem.2020.25.1.52. Epub 2020 Mar 31.
Prader-Willi syndrome (PWS), an imprinting disorder, results from the loss of expression of a paternal gene on chromosome 15q11-q13. Progressive obesity and its associated complications lead to increased morbidity and early death in PWS patients. The management techniques available for morbid obesity in adolescents and adults with PWS are limited. Herein, we report successful weight reduction in an adolescent PWS case showing morbid obesity and respiratory failure. An 18-year-old girl with PWS presented with diffuse cellulitis and dyspnea due to severe obesity. Her body weight had increased from 146 to 161 kg despite dietary restriction to 800 kcal/day, and a mechanical ventilator was required for dyspnea. During mechanical ventilation, the patient was managed using diuretics and by restricting fluid intake; her daily calorie intake was reduced to 200 kcal. This aggressive calorie and water restriction continued for 3 weeks and reduced her body weight to 118.6 kg. After transfer to the general ward, the patient was provided with growth hormone therapy and intensive aquatic rehabilitation and was administered liraglutide; as a result, her weight further decreased to 104 kg (body mass index [BMI], 50.8 kg/m2), and she was discharged. Following discharge, she maintained her BMI and adapted to 1,000 kcal/day for 1 year. Aggressive water and calorie restriction were observed as an effective method for rapid weight reduction in PWS patients, and liraglutide appeared useful in maintaining weight reduction in adolescent and adult PWS.
普拉德-威利综合征（PWS）是一种印记障碍，由15号染色体q11-q13区域父源基因表达缺失所致。进行性肥胖及其相关并发症导致PWS患者发病率增加和过早死亡。针对患有PWS的青少年和成人的病态肥胖，可用的治疗技术有限。在此，我们报告了一例患有病态肥胖和呼吸衰竭的青少年PWS患者成功减重的病例。一名患有PWS的18岁女孩因严重肥胖出现弥漫性蜂窝织炎和呼吸困难。尽管将每日饮食限制在800千卡，但她的体重仍从146公斤增加到了161公斤，且因呼吸困难需要使用机械通气。在机械通气期间，使用利尿剂并限制液体摄入量对患者进行治疗；她的每日卡路里摄入量降至200千卡。这种严格的卡路里和水分限制持续了3周，她的体重降至118.6公斤。转至普通病房后，为患者提供了生长激素治疗和强化水上康复治疗，并给予利拉鲁肽；结果，她的体重进一步降至104公斤（体重指数[BMI]，50.8kg/m²），随后出院。出院后，她维持了BMI，并在1年内适应了每日1000千卡的摄入量。严格的水分和卡路里限制被视为PWS患者快速减重的有效方法，利拉鲁肽似乎有助于维持青少年和成人PWS患者的体重减轻。
