Impaired Chemotaxis and Neutrophil (Polymorphonuclear Leukocyte) Function in Glycogenosis Type IB

Koven, Norman L.; Clark, Mimi M; Cody, Carolyn S.; Stanley, Charles A.; Baker, Lester; Douglas, Steven D.

doi:10.1203/00006450-198605000-00012

Cited by 26 publications

(22 citation statements)

References 23 publications

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“…The study population consisted of three unrelated GSD lb patients: two females aged 3 and 8 yr and one male aged 22 yr; two ofthese patients have been previously reported (14). Also enrolled in the study were seven unrelated GSD la patientsbetween the ages of 5 and 28 yr of which four were males and three were females.…”

Section: Methodsmentioning

confidence: 99%

“…There is in-HMPS, hexose monophosphate shunt; la and lb, types la and lb of GSD. creasing evidence of functional defect(s) in GSD lb patients' phagocytic cells which limits their ability to destroy invading microorganisms. Defects in neutrophil chemotaxis and bactericidal activity have been described (8,(12)(13)(14)(15)). An important mechanism in phagocyte bactericidal activity is a process termed respiratory burst activity.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Impaired metabolic function and signaling defects in phagocytic cells in glycogen storage disease type 1b.

Kilpatrick

Garty²,

Lundquist³

et al. 1990

J. Clin. Invest.

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Patients with glycogen storage disease (GSD) type lb (lb), in contrast to patients with GSD type la (la), are susceptible to recurrent bacterial infections suggesting an impairment in their immune system. In this study, phagocytic cell (neutrophil and monocyte) respiratory burst activity, as measured by superoxide anion generation, oxygen consumption, and hexose monophosphate shunt activity, was markedly reduced in both neutrophils and monocytes from GSD lb patients as compared with either GSD la patients or healthy adult control cells. Degranulation, unlike respiratory burst activity, was not significantly different in neutrophils from GSD lb patients as compared with controls. Both neutrophils and monocytes from GSD lb patients showed decreased ability to elevate cytosolic calcium in response to the chemotactic peptide f-Met-LeuPhe. In addition, calcium mobilization in response to ionomycin was also attenuated suggesting decreased calcium stores.

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Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Impaired metabolic function and signaling defects in phagocytic cells in glycogen storage disease type 1b.

Kilpatrick

Garty²,

Lundquist³

et al. 1990

J. Clin. Invest.

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“…Multiple functional abnormalities have been identified including chemotaxis, bactericidal activity, respiratory burst activity, and glucose transport (12)(13)(14)(15)(16)(17)(18). We previously demonstrated that the defect in respiratory burst activity was associated with impaired calcium mobilization and decreased intracellular calcium stores (18,19).…”

Section: ---mentioning

confidence: 99%

Interferon-γ Corrects the Respiratory Burst Defect In Vitro in Monocyte-Derived Macrophages from Glycogen Storage Disease Type 1b Patients

et al. 1993

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“…As alterações dos neutrófilos incluem mobilidade e aderência reduzidas, defeitos na atividade bactericida e fagocitose, redução na produção de ânion superóxido e da atividade do shunt da hexose-monofosfato (HMP) 39 . Apesar dos diversos trabalhos demonstrarem essas alterações, a patogênese permanece desconhecida 36 .…”

Section: Glicogenose Ibunclassified

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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Impaired Chemotaxis and Neutrophil (Polymorphonuclear Leukocyte) Function in Glycogenosis Type IB

Cited by 26 publications

References 23 publications

Impaired metabolic function and signaling defects in phagocytic cells in glycogen storage disease type 1b.

Impaired metabolic function and signaling defects in phagocytic cells in glycogen storage disease type 1b.

Interferon-γ Corrects the Respiratory Burst Defect In Vitro in Monocyte-Derived Macrophages from Glycogen Storage Disease Type 1b Patients

Glycogenosis type I

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