赖氨酸尿性蛋白耐受不良患儿的 肠内营养支持1例并文献复习. (Chinese)

Objective To summarize the clinical characteristics and nutrition therapy for children with lysinuric protein intolerance (LPI). Methods The clinical manifestations, laboratory test results and enteral nutrition treatment in a girl with LPI diagnosed in Xiangya Hospital, Central South University were retrospective analyzed. Additionally, the data of the children with LPI reported in China and overseas were reviewed. Results A case of 4-year-old girl was presented, who exhibited significant gastrointestinal symptoms, such as chronic abdominal distension, prolonged diarrhea, recurrent pneumonia, and limited growth. She had a poor response to anti-infection treatment. After receiving enteral nutrition therapy, she did not experience any gastrointestinal discomfort, and there were improvements in the levels of hemoglobin, albumin, and blood ammonia. Unfortunately, due to serious illness, she declined further treatment and later passed away. A total of 92 cases of pediatric patients with LPI have been reported to date, including one case reported in this study. Most children with LPI experienced disease onset after weaning or introduction of complementary foods, presenting with severe digestive system symptoms, malnutrition, and growth retardation. It is noteworthy that only 50% (46/92) of these cases received nutritional therapy, which effectively improved their nutritional status. Among the 92 children, 8 (9%) died, and long-term follow-up data were lacking in other reports. Conclusions LPI often involves the digestive system and may result in growth restriction with a poor prognosis. Nutritional therapy plays a crucial role in the comprehensive treatment of LPI. [ABSTRACT FROM AUTHOR]

目的 总结赖氨酸尿性蛋白耐受不良（lysinuric protein intolerance, LPI） 患儿的临床特点及营养治 疗。方法 回顾性分析中南大学湘雅医院诊断的1 例LPI 患儿的临床表现、实验室检查及肠内营养治疗过程, 并 总结复习国内外文献报道的LPI 患儿相关资料。结果 4 岁女童, 长期慢性腹胀、腹泻等消化道症状显著, 反复 肺部感染, 生长发育不良, 抗感染治疗效果不佳。接受肠内营养治疗后无消化道不适, 血红蛋白、白蛋白等有 好转, 血氨下降。但因病情严重, 家属放弃治疗后死亡。目前已报道的LPI 患儿（包括该研究报道） 有92 例, 多在断奶或进食辅食后发病, 以严重的消化系统症状、营养不良及生长发育落后为特点, 仅有50% （46/92） 患 儿得到规范的营养治疗并有效改善了营养状况。92 例患儿中, 8 例（9%） 死亡, 其余病例未进行长期随访报道。 结论 LPI 常有消化系统受累进而出现生长发育不良, 预后差, 营养治疗是该病救治过程中必不可少的治疗手段 之一。. [ABSTRACT FROM AUTHOR]

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