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Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature

Marques-da-Silva, D. ; dos Reis Ferreira, V. ; Monticelli, M. ; Janeiro, P. ; Videira, P. A. ; Witters, P. ; Jaeken, J. ; Cassiman, D.

Journal of Inherited Metabolic Disease, 2017-03, Vol.40 (2), p.195-207 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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  • Título:
    Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature
  • Autor: Marques-da-Silva, D. ; dos Reis Ferreira, V. ; Monticelli, M. ; Janeiro, P. ; Videira, P. A. ; Witters, P. ; Jaeken, J. ; Cassiman, D.
  • Assuntos: Biochemistry ; Congenital Disorders of Glycosylation - diagnosis ; Congenital Disorders of Glycosylation - pathology ; Glycosylation ; Human Genetics ; Humans ; Internal Medicine ; Liver - pathology ; Medicine ; Medicine & Public Health ; Metabolic Diseases ; Pediatrics ; Review
  • É parte de: Journal of Inherited Metabolic Disease, 2017-03, Vol.40 (2), p.195-207
  • Notas: Communicated by: Eva Morava
    Electronic Supplementary Material
    The online version of this article (doi:10.1007/s10545‐016‐0012‐4) contains supplementary material, which is available to authorized users.
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  • Descrição: Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases caused by defects in glycosylation. Nearly 100 CDG types are known so far. Patients present a great phenotypic diversity ranging from poly- to mono-organ/system involvement and from very mild to extremely severe presentation. In this literature review, we summarize the liver involvement reported in CDG patients. Although liver involvement is present in only a minority of the reported CDG types (22 %), it can be debilitating or even life-threatening. Sixteen of the patients we collated here developed cirrhosis, 10 had liver failure. We distinguish two main groups: on the one hand, the CDG types with predominant or isolated liver involvement including MPI-CDG, TMEM199-CDG, CCDC115-CDG, and ATP6AP1-CDG, and on the other hand, the CDG types associated with liver disease but not as a striking, unique or predominant feature, including PMM2-CDG, ALG1-CDG, ALG3-CDG, ALG6-CDG, ALG8-CDG, ALG9-CDG, PGM1-CDG, and COG-CDG. This review aims to facilitate CDG patient identification and to understand CDG liver involvement, hopefully leading to earlier diagnosis, and better management and treatment.
  • Editor: Dordrecht: Springer Netherlands
  • Idioma: Inglês
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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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