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

doi:10.7499/j.issn.1008-8830.2306148

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Abstract 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.

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	Articles by authors
	QUAN Jiao
	LIU Xiao-Feng
	HU Ke
	HOU Qian

Key words： Lysinuric protein intolerance Malnutrition Nutrition therapy Child

Received: 29 June 2023

Cite this article:

QUAN Jiao,LIU Xiao-Feng,HU Ke et al. Enteral nutrition support for lysinuric protein intolerance: a case report and literature review[J]. CJCP, 2023, 25(12): 1270-1275.

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http://www.zgddek.com/EN/10.7499/j.issn.1008-8830.2306148 OR http://www.zgddek.com/EN/Y2023/V25/I12/1270

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