Clinical features of children with lysinuric protein intolerance and SLC7A7 gene mutation: an analysis of 3 cases / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 375-380, 2019.
Article
em Zh
| WPRIM
| ID: wpr-774068
Biblioteca responsável:
WPRO
ABSTRACT
Lysinuric protein intolerance (LPI) is an autosomal recessive disorder caused by SLC7A7 gene mutation and often involves severe lesions in multiple systems. Lung involvement is frequently seen in children with LPI and such children tend to have a poor prognosis. This article summarizes the clinical manifestations and gene mutation characteristics of three children diagnosed with LPI by SLC7A7 gene analysis. All three children had the manifestations of aversion to protein-rich food after weaning, delayed development, anemia, hepatosplenomegaly, and osteoporosis, as well as an increase in orotic acid in urine. In addition, interstitial pneumonia and diffuse pulmonary interstitial lesions were observed in two children. SLC7A7 gene detection showed three pathogenic mutations in these children, namely c.1387delG(p.V463CfsX56), c.1215G>A(p.W405X) and homozygous c.625+1G>A. After a definite diagnosis was made, all three children were given a low-protein diet and oral administration of citrulline [100 mg/(kg.d)], iron protein succinylate [4 mg/(kg.d)], calcium and zinc gluconates oral solution (10 mL/day) and vitamin D (400 IU/day). In addition, patient 3 was given prednisone acetate (5 mg/day). The children had varying degrees of improvement in symptoms and signs. It is hard to distinguish LPI from urea cycle disorder due to the features of amino acid and organic acid metabolism in LPI, and SLC7A7 gene analysis is the basis for a definite diagnosis of LPI.
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1
Índice:
WPRIM
Assunto principal:
Citrulina
/
Cadeias Leves da Proteína-1 Reguladora de Fusão
/
Genética
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Erros Inatos do Metabolismo dos Aminoácidos
/
Lisina
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Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Humans
Idioma:
Zh
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2019
Tipo de documento:
Article