ReviewZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2023
[Enteral nutrition support for lysinuric protein intolerance: a case report and literature review].
Review in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed, 1 citations in OpenAlex.
- Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center.Orphanet journal of rare diseases · 2026Article
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4 authors at 1 institution in 1 country.
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Abstract
objectivesTo summarize the clinical characteristics and nutrition therapy for children with lysinuric protein intolerance (LPI).
methodsThe 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.
resultsA 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.
conclusionsLPI 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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