Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation.
Mol Genet Metab
; 138(4): 107559, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: covidwho-20243551
ABSTRACT
Phosphomannomutase-2-congenital disorder of glycosylation (PMM2-CDG) is the most common CDG and presents with highly variable features ranging from isolated neurologic involvement to severe multi-organ dysfunction. Liver abnormalities occur in in almost all patients and frequently include hepatomegaly and elevated aminotransferases, although only a minority of patients develop progressive hepatic fibrosis and liver failure. No curative therapies are currently available for PMM2-CDG, although investigation into several novel therapies is ongoing. We report the first successful liver transplantation in a 4-year-old patient with PMM2-CDG. Over a 3-year follow-up period, she demonstrated improved growth and neurocognitive development and complete normalization of liver enzymes, coagulation parameters, and carbohydrate-deficient transferrin profile, but persistently abnormal IgG glycosylation and recurrent upper airway infections that did not require hospitalization. Liver transplant should be considered as a treatment option for PMM2-CDG patients with end-stage liver disease, however these patients may be at increased risk for recurrent bacterial infections post-transplant.
Palavras-chave
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
MEDLINE
Assunto principal:
Transplante de Fígado
/
Fosfotransferases (Fosfomutases)
/
Defeitos Congênitos da Glicosilação
Tipo de estudo:
Relato de caso
/
Estudo de coorte
/
Estudo prognóstico
Tópicos:
Covid persistente
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Mol Genet Metab
Assunto da revista:
Biologia Molecular
/
Bioquímica
/
Metabolismo
Ano de publicação:
2023
Tipo de documento:
Artigo
País de afiliação:
J.ymgme.2023.107559
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