Ma YanYan, Wu TongFei, Liu YuPeng, Wang Qiao, Song JinQing, Song Fang, Yang YanLing
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
J Pediatr Endocrinol Metab. 2012;25(11-12):1103-9. doi: 10.1515/jpem-2012-0167.
Early treatment (growth hormone and nutritional support) improves development in infants with Prader-Willi syndrome. This study aimed to evaluate the nutritional and metabolic condition of nine patients who were diagnosed and treated in early infancy.
Nine patients were hospitalized at the age of \xe2\u20ac\xa810 days to 11 months because of severe feeding difficulties, failure to thrive, or developmental delay. The diagnosis of Prader-Willi syndrome was confirmed by fluorescence in situ hybridization or other molecular genetic techniques. Nutritional and metabolic investigations including urinary organic acid analysis, blood amino acid, and acylcarnitine profiles were performed.
The diagnosis was made at the mean age of 6.3 months. A deletion of the paternal gene in the 15q11-13 region was detected in all patients. Eight patients had ketosis, seven had malnutrition, five had hyperammonemia, three had liver dysfunction, three had low blood cholesterol level, and two had hypoglycemia. All patients had reduction of serum multiple amino acids and free carnitine. Significant arginine deficiency was found in all patients. Six patients had mildly elevated blood long-chain and very long-chain acylcarnitine. After supplementation with l-arginine, medium-chain fatty acids, l-carnitine, and vitamins, all patients responded with improvement of motor development and nutritional conditions. Four patients were almost caught up on physical and psychomotor development.
Patients with Prader-Willi syndrome are in bad metabolic condition in the early period. Early diagnosis and individual nutritional interventions may improve the nutritional and developmental progress and decrease death rate in infancy.
早期治疗（生长激素和营养支持）可改善普拉德-威利综合征患儿的发育情况。本研究旨在评估9例在婴儿早期被诊断并接受治疗的患者的营养和代谢状况。
9例患者因严重喂养困难、生长发育迟缓或发育延迟于10天至11个月大时住院。通过荧光原位杂交或其他分子遗传学技术确诊为普拉德-威利综合征。进行了包括尿有机酸分析、血液氨基酸和酰基肉碱谱分析在内的营养和代谢研究。
诊断时的平均年龄为6.3个月。所有患者均检测到15q11 - 13区域父源基因缺失。8例患者有酮症，7例有营养不良，5例有高氨血症，3例有肝功能障碍，3例血胆固醇水平低，2例有低血糖。所有患者血清多种氨基酸和游离肉碱均降低。所有患者均存在明显的精氨酸缺乏。6例患者血中长链和极长链酰基肉碱轻度升高。补充l -精氨酸、中链脂肪酸、l -肉碱和维生素后，所有患者的运动发育和营养状况均有改善。4例患者在身体和精神运动发育方面几乎赶上同龄人。
普拉德-威利综合征患者早期代谢状况不佳。早期诊断和个体化营养干预可能改善营养和发育进程，降低婴儿期死亡率。
