RESUMO
OBJECTIVES: To investigate the growth hormone (GH)-insulin-like growth factor (IGF) system in patients with glycogen storage disease type 1 (GSD1). STUDY DESIGN: This was a prospective, case-control study. Ten patients with GSD1a and 7 patients with GSD1b who were given dietary treatment and 34 sex-, age-, body mass index-, and pubertal stage-matched control subjects entered the study. Auxological parameters were correlated with circulating GH, either at basal or after growth hormone releasing hormone plus arginine test, insulin-like growth factors (IGF-I and IGF-II), and anti-pituitary antibodies (APA). RESULTS: Short stature was detected in 10.0% of patients with GSD1a, 42.9% of patients with GSD1b (P = .02), and none of the control subjects. Serum IGF-I levels were lower in patients with GSD1b (P = .0001). An impaired GH secretion was found in 40% of patients with GSD1a (P = .008), 57.1% of patients with GSD1b (P = .006), and none of the control subjects. Short stature was demonstrated in 3 of 4 patients with GSD1b and GH deficiency. The prevalence of APA was significantly higher in patients with GSD1b than in patients with GSD1a (P = .02) and control subjects (P = .03). The GH response to the provocative test inversely correlated with the presence of APA (P = .003). Compared with levels in control subjects, serum IGF-II and insulin levels were higher in both groups of patients, in whom IGF-II levels directly correlated with height SD scores (P = .003). CONCLUSION: Patients with GSD1a have an impaired GH secretion associated with reference range serum IGF-I levels and normal stature, whereas in patients with GSD1b, the impaired GH secretion, probably because of the presence of APA, was associated with reduced IGF-I levels and increased prevalence of short stature. The increased IGF-II levels, probably caused by increased insulin levels, in patients with GSD1 are presumably responsible for the improved growth pattern observed in patients receiving strict dietary treatment.
Assuntos
Estatura/fisiologia , Doença de Depósito de Glicogênio Tipo I/sangue , Transtornos do Crescimento/etiologia , Hormônio do Crescimento/sangue , Somatomedinas/metabolismo , Adolescente , Biomarcadores/sangue , Índice de Massa Corporal , Estudos de Casos e Controles , Criança , Estudos Transversais , Ensaio de Imunoadsorção Enzimática , Feminino , Seguimentos , Doença de Depósito de Glicogênio Tipo I/complicações , Doença de Depósito de Glicogênio Tipo I/fisiopatologia , Transtornos do Crescimento/epidemiologia , Transtornos do Crescimento/fisiopatologia , Humanos , Ensaio Imunorradiométrico , Itália/epidemiologia , Masculino , Prevalência , Prognóstico , Estudos Prospectivos , Fatores de Risco , Fatores de Tempo , Adulto JovemRESUMO
Justificativa e objetivos - A Deficiência de Glicoseð6ðFosfatoðDesidrogenase (G6PD) é uma enzimopatia relativamente comum, mas as publicações relacionando essa condição com a anestesia são escassas. O objetivo deste relato é apresentar um caso de paciente portador de Deficiência de G6PD, submetido à tenotomia para alongamento de tendão de Aquiles, sob anestesia venosa associada à bloqueio subaracnóideo. Relato de caso - Paciente masculino, 9 anos, 48 kg, portador de deficiência de G6PD e polineuropatia periférica, submetido à tenotomia de tendão de Aquiles, sob anestesia geral venosa com midazolam, propofol e fentanil, associada à bloqueio subaracnóideo com bupivacaína hiperbárica a 0,5 por cento. Ao final da cirurgia o paciente despertou tranqüilo, sem dor ou outras queixas, evoluiu bem, recebendo alta hospitalar sem intercorrências. Conclusões - Pela evolução do caso relatado, a anestesia subaracnóidea com bupivacaína associada à anestesia venosa total com propofol, mostrou ser uma técnica segura em pacientes portador de deficiência de G6PD
Assuntos
Humanos , Masculino , Criança , Anestesia Geral , Doença de Depósito de Glicogênio Tipo I/complicações , Doença de Depósito de Glicogênio Tipo I/fisiopatologia , Doença de Depósito de Glicogênio Tipo I/genética , Tendão do Calcâneo/cirurgiaRESUMO
OBJECTIVE: To study the relation between muscle force, bone mass, and metabolic control in patients with glycogen storage disease type (GSD 1). STUDY DESIGN: Distal radius bone mass and density were evaluated in 19 patients with GSD 1 (15 GSD 1a, 4 GSD 1b) by means of peripheral quantitative computed tomography. Grip force was quantified with a dynamometer. RESULTS: Height, weight, bone mass, and grip force were significantly decreased in the patients with GSD 1a, mainly as the result of low values in the poorly controlled subgroup. Boys had lower bone mass than girls. Patients with GSD 1b had higher values for bone mineral density in the trabecular compartment. In most of the study participants bone mass appeared to be adequately adapted to the mechanical requirements imposed by muscle contraction. However, 3 patients with GSD 1a had evidence for a low bone mass. CONCLUSIONS: In GSD 1, both reduced muscle strength and a direct disease effect can contribute to low bone mass. The quality of treatment is crucial to prevent disturbances in musculoskeletal development.
Assuntos
Glicemia , Densidade Óssea , Doença de Depósito de Glicogênio Tipo I/metabolismo , Doença de Depósito de Glicogênio Tipo I/fisiopatologia , Força da Mão , Adolescente , Análise de Variância , Antropometria , Criança , Pré-Escolar , Estudos Transversais , Feminino , Doença de Depósito de Glicogênio Tipo I/terapia , Humanos , Masculino , Análise de RegressãoRESUMO
We describe 2 patients with glycogen storage disease type 1a and severe hyperlipidemia without premature atherosclerosis. Susceptibility of low-density lipoproteins to oxidation was decreased, possibly related to the ~40-fold increase in palmitate synthesis altering lipoprotein saturated fatty acid contents. These findings are potentially relevant for antihyperlipidemic treatment in patients with glycogen storage disease type 1a.
Assuntos
LDL-Colesterol/metabolismo , Doença de Depósito de Glicogênio Tipo I/fisiopatologia , Hiperlipidemias/complicações , Adulto , Doença de Depósito de Glicogênio Tipo I/sangue , Doença de Depósito de Glicogênio Tipo I/complicações , Doença de Depósito de Glicogênio Tipo I/genética , Humanos , Lipoproteínas VLDL/metabolismo , Masculino , Oxirredução , Triglicerídeos/sangueRESUMO
Introuducción. Las alteraciones en el metabolismo de los carbohidratos muestran un espectro clínico, bioquímico, histológico y ultraestructural variado. La glucogenosis tipo I puede presentar diversas manifestaciones hepáticas y ocasionalmente renales. Caso clínico. Niño de 1 año a 2 meses de edad, que presentó desde los 2 meses de vida glucogenosis hepática tipo I, con hallazgos histológicos y ultraestructurales característicos; desarrolló insuficiencia renal con leisones de glomeruloesclerosis focal y segmentaria, vacuolización epitelial tubular y nefritis tubulointersticial. Falleció de un cuadro de vías respiratorias y boncroaspiración. Conclusiones. El presente caso ilustra las alteraciones renales en un lactante con glucogenosis tipo I que evolucionó rápidamente a insuficiencia renal, lo que usualmente ocurre a edades mayores. Es necesario vigilar la función renal en caso de glucogenosis, aún desde edades tempranas
Assuntos
Humanos , Masculino , Lactente , Doença de Depósito de Glicogênio Tipo I/fisiopatologia , Glomerulosclerose Segmentar e Focal , Rim/fisiopatologiaRESUMO
Two children with glycogen storage disease type Ib associated with numerous recurrent bacterial infections as a result of neutropenia and neutrophil dysfunction were treated with recombinant human granulocyte colony-stimulating factor (G-CSF). One of the two patients was previously treated with recombinant human granulocyte-macrophage colony-stimulating factor (GM-CSF); therapy had to be discontinued because of severe local side effects. Both colony-stimulating factors at dosages of 3 and 8 micrograms/kg/per day, respectively, increased the average neutrophil counts from less than 300 cells/microliters to more than 1200 cells/microliters. Two subpopulations of neutrophils could be identified by their capacity to produce H2O2: one subpopulation generated H2O2 normally and a second was defective in H2O2 production. The doses of G-CSF effectively enhanced and maintained that subpopulation of neutrophils which produced normal amounts of H2O2. Moreover, these colony-stimulating factor-induced neutrophils demonstrated effective phagocytosis of zymosan particles and killing of staphylococci. Chemotaxis was decreased and could not be normalized by treatment with G-CSF. We conclude that maintenance treatment with G-CSF improved the quality of life in both patients: The number and severity of bacterial infections decreased markedly during treatment. Long-term treatment with G-CSF (12 and 10 months, respectively) was well tolerated, and no adverse clinical events were observed.
Assuntos
Doença de Depósito de Glicogênio Tipo I/terapia , Fator Estimulador de Colônias de Granulócitos/uso terapêutico , Fator Estimulador de Colônias de Granulócitos e Macrófagos/uso terapêutico , Neutropenia/terapia , Adolescente , Bacteriólise , Quimiotaxia de Leucócito/fisiologia , Feminino , Citometria de Fluxo , Doença de Depósito de Glicogênio Tipo I/fisiopatologia , Fator Estimulador de Colônias de Granulócitos/administração & dosagem , Fator Estimulador de Colônias de Granulócitos e Macrófagos/administração & dosagem , Humanos , Peróxido de Hidrogênio/metabolismo , Lactente , Injeções Subcutâneas , Contagem de Leucócitos , Masculino , Neutropenia/fisiopatologia , Neutrófilos/metabolismo , Neutrófilos/patologia , Neutrófilos/fisiologia , Proteínas Recombinantes , Staphylococcus aureus/fisiologia , Superóxidos/metabolismoAssuntos
Humanos , Criança , Doença de Depósito de Glicogênio Tipo I/complicações , Doença de Depósito de Glicogênio Tipo I/diagnóstico , Doença de Depósito de Glicogênio Tipo I/epidemiologia , Doença de Depósito de Glicogênio Tipo I/etiologia , Doença de Depósito de Glicogênio Tipo I/fisiopatologia , Doença de Depósito de Glicogênio Tipo I/genética , Doença de Depósito de Glicogênio Tipo I/reabilitaçãoRESUMO
We have observed the development of chronic inflammatory bowel disease, indistinguishable from Crohn disease, in two boys with glycogen storage disease type Ib (GSD-Ib). A chance association of these diseases in two patients is unlikely. Studies of their neutrophils showed severe chronic neutropenia (mean absolute granulocyte counts of less than 500 cells/microliter) and markedly deficient chemotactic response (less than 5% of reference values) in the patients with GSD-Ib and normal neutrophil values in four patients with glycogen storage disease type Ia (GSD-Ia). Monocyte counts and responses to chemotactic stimulation were normal in both GSD-Ia and GSD-Ib. Chronic inflammatory bowel disease appears to be associated with GSD-Ib, and neutrophil abnormalities may be involved in the pathogenesis of the bowel inflammation.