发-肝-肠综合征继发重度营养不良婴儿营养支持治疗及随访  

Follow-up of nutrition support and treatment in an infant with severe malnutrition secondary to Tricho-hepato-enteric syndrome

作　　者：孔桂萍 刘志峰[1] 郑必霞[2] 金玉[1] 潘键 Kong Guiping;Liu Zhifeng;Zheng Bixia;Jin Yu;Pan Jian(Department of Gastroenterology,Children′s Hospital of Nanjing Medical University,Nanjing 210008,China;Key Laboratory of Pediatrics,Children′s Hospital of Nanjing Medical University,Nanjing 210008,China;Department of Clinical Nutrition,Children′s Hospital of Nanjing Medical University,Nanjing 210008,China)

机构地区：[1]南京医科大学附属儿童医院消化科,210008 [2]南京医科大学附属儿童医院儿科重点实验室,210008 [3]南京医科大学附属儿童医院临床营养科,210008

出　　处：《中华实用儿科临床杂志》2021年第20期1579-1581,共3页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家自然科学基金(81570470)。

摘　　要：对2013年12月南京医科大学附属儿童医院确诊的1例发-肝-肠综合征(THES)患儿的临床资料、营养支持及随访6年的结果进行分析。患儿存在重度营养不良、生长迟缓、低磷血症、低球蛋白血症、高营养风险状态、肠功能障碍明显,基因检测发现SKIV2L基因变异。在腹泻急性加重期,采用肠内营养和短期阶段性静脉营养;在缓解期口服深度水解配方和低脂低渣优质蛋白饮食进行营养支持,最终患儿腹泻好转,营养状况改善,生长发育追赶良好,神经运动发育正常,入校学习无障碍。提示合理的个体化营养支持能够显著改善THES患儿的肠道功能、营养状况,帮助患儿度过危险期,改善生存质量,延长生存时间。Clinical data,nutrition support and 6-year follow-up results of a patient with Tricho-hepato-enteric syndrome(THES)diagnosed in the Children′s Hospital of Nanjing Medical University in December 2013 were analyzed.The patient suffered severe malnutrition,growth retardation,hypophosphatemia,hypoglobulinemia,high nutritional risk status and significant intestinal dysfunction.The genetic testing revealed SKIV2L gene variation in this case of THES.During the acute exacerbation of diarrhea,enteral nutrition and periodical short-term parenteral nutrition were given as nutrition support.Deep-hydrolyzed formula by oral and low-fat,low-residue,high-quality-protein diet was given during the remission phase.At last,the diarrhea and nutritional status of the patient improved gradually.The growth and development,including neuromotor development of the case also caught up to children with the same age,and he was capable of schooling.It is suggested that rational individualized nutrition support can significantly improve intestinal function and nutritional status of children with THES,which overcome the dangerous period,improve the quality of life and prolong the survival time.

关 键 词：发-肝-肠综合征 婴儿 营养不良 营养支持 

分 类 号：R725[医药卫生—儿科]