Treatment with lenograstim (glycosylated recombinant human granulocyte colony-stimulating factor) and orthotopic liver transplantation for glycogen storage disease type Ib

Lachaux, A.; Boillot, Olivier; Stamm, D.; Cantérino, I; Dumontet, Charles; Régnier, Fabienne; Floret, D.; Hermier, M

doi:10.1016/s0022-3476(05)80403-2

Cited by 39 publications

(27 citation statements)

References 8 publications

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“…[18][19][20][21][22] This is consistent with our findings, which also suggest that the kidney has a secondary role in glucose homeostasis relative to the liver because the liver G6PT transduction alone corrected the metabolic abnormalities in GSD-Ib mice. Our findings also suggest that reconstitution of a functional liver G6PT is not sufficient to prevent metabolic consequences in the kidney.…”

Section: Discussionsupporting

confidence: 91%

Glucose-6-phosphate transporter gene therapy corrects metabolic and myeloid abnormalities in glycogen storage disease type Ib mice

Yiu

Pan

et al. 2006

Gene Ther

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Section: Discussionsupporting

confidence: 91%

Glucose-6-phosphate transporter gene therapy corrects metabolic and myeloid abnormalities in glycogen storage disease type Ib mice

Yiu

Pan

et al. 2006

Gene Ther

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“…Cerca de 80% das infecções são múltiplas e iniciam-se no primeiro ano de vida 37 . A freqüência das infecções usualmente não está relacionada com a gravidade da neutropenia 38 .…”

Section: Glicogenose Ibunclassified

“…As alterações dos neutrófilos independem do controle metabólico 8,37,38 . Esta constatação estimulou os pesquisadores a buscarem outras opções para o controle das infecções na glicogenose Ib.…”

Section: Prevenção E Tratamento Das Infecçõesunclassified

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Glycogenosis type I

Reis

Penna²,

Oliveira³

et al. 1999

J Pediatr (Rio J)

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ResumoObjetivo: Divulgar os conhecimentos atuais acerca da glicogenose tipo I -doença de depósito de glicogênio resultante da deficiência da enzima glicose-6-fosfatase -e dotar o pediatra das informações necessárias para o diagnóstico precoce e a conduta adequada nos casos acometidos por esse distúrbio metabólico.Métodos: Foram selecionados, através da Medline, os artigos de periódicos médicos nacionais e internacionais mais relevantes dos últimos 20 anos, com ênfase especial ao tratamento dietético da glicogenose tipo I.Resultados: O metabolismo do glicogênio e as conseqüências metabólicas da glicogenose tipo I são discutidos, em especial, a hipoglicemia, o principal distúrbio metabólico da doença. São descritos os quadros clínico e laboratorial e a histopatologia.O uso do amido de milho cru e da infusão de glicose por sonda são recursos empregados para a manutenção da normoglicemia. O controle da hiperuricemia, da hiperlipidemia e da disfunção plaquetária são outros aspectos do tratamento, assim como o controle das infecções e o uso do G-CSF na glicogenose Ib. O transplante hepático e as suas principais indicações são comentados. Os adenomas hepáticos, que abrigam um potencial para transformação maligna, são resultantes do tratamento incompleto.Conclusões: Embora de ocorrência rara, a glicogenose tipo I é uma causa importante de hepatomegalia volumosa associada à hipoglicemia entre os lactentes. O tratamento dietético dessa afecção tem alterado significativamente o curso clínico e melhorado o prognóstico. Portanto, é indispensável que o pediatra geral se familiarize com o diagnóstico dessa entidade clínica para atuar com rigor no seu controle dietético.J. pediatr. (Rio J.). 1999; 75(4): 227-236: doença do armazenamento de glicogênio tipo I, hepatomegalia, hipoglicemia, glicose-6-fosfatase, amido. AbstractObjective: To o present up-to-date knowledge about Glycogen storage disease type I (GSD-type I) -a disease caused by the deposit of glycogen resulting from the deficiency of the enzyme glucose-6-phosphatase -and to provide the pediatricians with the necessary information for a precocious diagnosis and an adequate conduct for those cases where this metabolic disturbance is present.Methods: Through Medline, the most significant articles published during the last 20 years were selected from national and international journals of medicine, with special attention to dietary treatment of glycogen storage disease type I.Results: The metabolism of glycogen and the metabolic consequences of glycogen storage disease type I were discussed, especially hypoglycemia, the principal metabolic disturbance of the disease. The clinical and laboratory findings are described together with the histopathology.The use of uncooked cornstarch and enteral carbohydrate infusion are the means used for the maintenance of normoglycemia. The control of hyperuricemia, hyperlipidemia and platelet disorders are other aspects of the treatment as well as the prevention of infections and the use of G-CSF for glycogen storage type Ib. Hepatic trans...

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“…The usual medical treatment for this disease consists of frequent meals, continuous nocturnal gastric drip feeding, the administration of uncooked cornstarch for hypoglycemia, and the regular administration of recombinant human granulocyte colony stimulating factor (G-CSF) for neutropenia. 6,7 This treatment, however, is not always sufficient for avoiding hypoglycemia and recurrent infections. Moreover, such treatments may not prevent poor metabolic control and/or growth retardation.…”

mentioning

confidence: 99%

Living donor liver transplantation for glycogen storage disease type Ib

et al. 2009

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Glycogen storage disease type 1b (GSD-1b) is due to an autosomal recessive inborn error of carbohydrate metabolism caused by defects in glucose-6-phosphatase translocase. Patients with GSD-1b have severe hypoglycemia with several clinical manifestations of hepatomegaly, obesity, a doll-like face, and neutropenia. Liver transplantation has been indicated for severe glucose intolerance. This study retrospectively reviewed 4 children with a diagnosis of GSD-1b who underwent living-donor liver transplantation (LDLT). Between November 2005 and June 2008, 96 children underwent LDLT with overall patient and graft survival of 92.3%. Of these, 4 (4.2%) were indicated for GSD-1b. All patients are doing well with an excellent quality of life because of the stabilization of glucose intolerance, decreased hospital admission, and normalized neutrophil count. LDLT appears to be a feasible option and is associated with a better quality of life for patients with GSD-1b. Long-term observation may be necessary to collect sufficient data to confirm the efficacy of this treatment modality.

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Treatment with lenograstim (glycosylated recombinant human granulocyte colony-stimulating factor) and orthotopic liver transplantation for glycogen storage disease type Ib

Cited by 39 publications

References 8 publications

Glucose-6-phosphate transporter gene therapy corrects metabolic and myeloid abnormalities in glycogen storage disease type Ib mice

Glucose-6-phosphate transporter gene therapy corrects metabolic and myeloid abnormalities in glycogen storage disease type Ib mice

Glycogenosis type I

Living donor liver transplantation for glycogen storage disease type Ib

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