Las glucogenosis son enfermedades hereditarias del metabolismo del glucógeno. Se reconocen más de 12 tipos y afectan principalmente al hígado y al músculo, by Glycogen storage disease 1b: Speculation on the role of autoimmunity. Tratamiento continuo con factores estimulantes de colonias (G-CSF) de la neutropenia asociada a la glucogenosis tipo IbTreatment with granulocyte colony . A glycogen storage disease (GSD) is the result of an enzyme defect. These enzymes normally catalyze reactions that ultimately convert.

Author: Tera Daishicage
Country: Cameroon
Language: English (Spanish)
Genre: Business
Published (Last): 9 April 2015
Pages: 403
PDF File Size: 11.91 Mb
ePub File Size: 8.89 Mb
ISBN: 450-9-28375-304-2
Downloads: 21023
Price: Free* [*Free Regsitration Required]
Uploader: Meztikora

Calcium and vitamin D supplements to support bone growth and mineralization. Molecular testing approaches can include serial single- gene testing, targeted analysis for pathogenic variantsuse of a multigene paneland more comprehensive genomic testing:. Follow GSDI guidelines published recently through a group of experts in the field [ Kishnani et al ].

Normal growth and puberty is expected glucogenozis treated children.

The genes included and the sensitivity of multigene panels vary by laboratory and over time. In an episode of metabolic decompensation, lactic acid levels abruptly rise and can exceed 15 mM, producing severe metabolic acidosis. A glucogenosie blood specimen obtained at the time of hypoglycemia typically reveals a mild metabolic acidosis, high free fatty acids and beta-hydroxybutyrate, very low insulin levels, and high levels of glucagon, cortisol, and growth hormone.

Edgar von Gierke, who first described the disease in A patient with GSD, type 1b was treated with a liver transplant at UCSF Medical Center in that resulted in the resolution of hypoglycemic 1bb and the need for the patient to stay away from natural sources of sugar. More than pathogenic variants are known see Table A. For questions regarding permissions or whether a specified use is allowed, contact: Most affected individuals live into adulthood. Fibrosis and cirrhosis do not occur in GSDI.

  ASCE 38-02 PDF

Immobilisation of fats results in an increase in Fatty Acids and ketone bodies.

Mutation analysis in glycogen storage disease type 1 non-a. Although successful pregnancies have been reported in women with GSDI, certain precautions should be taken:.


With age, however, clinical findings and biochemical work up can differentiate between the two disorders. Gynaecology Gynecologic oncology Maternal—fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology.

Systemic hypertension does not usually develop until the second decade or later and is often found in those individuals with GSDI who also have renal disease [ Rake et al ]. The next step is usually a carefully monitored fast.

These infants continue to need oral carbohydrates every few hours.

Changes in IQ, MRI findings, and EEG were found to correlate with the frequency of hypoglycemic episodes, particularly in those in poor dietary compliance [ Melis et al ]. Systemic blood pressure measurements should be obtained at all clinic visits beginning in infancy. Please help improve this article by adding citations to reliable sources. Pregnancy Management Although successful pregnancies have been reported in women with GSDI, certain precautions gglucogenosis be taken: Treatment should achieve normal glucose, lactic acid, and electrolyte levels, and only mild elevations of uric acid and triglycerides.


The prevalence of thyroid autoimmunity and hypothyroidism has been found to be increased in individuals with GSDIb [ Melis et al ].

Glucogénosis tipo I by luisa maria lombana rendon on Prezi

Liver tissue may be obtained at the same time as another surgery e. Granulocyte colony-stimulating factor G-CSF, e. Management aims at avoiding hypoglycemia frequent meals, nocturnal enteral feeding through a nasogastric tube, tpio later oral addition of uncooked starchacidosis restricted fructose and galactose intake, oral supplementation in bicarbonatehypertriglyceridemia diet, cholestyramine, statineshyperuricemia allopurinol and hepatic complications.

Calcium nephrolithiasis and distal tubular acidosis in type 1 glycogen storage disease. Neutropenia and impaired neutrophil function.


We present the case of a year-old woman, diagnosed in childhood with type III glycogen glucogenossis disease, who 30 years after onset developed a hepatocellular carcinoma with portal thrombosis in the context of advanced cirrhosis. Bones benefit from better biochemical control in type 1 glycogen storage disease. J Pediatr Gastroenterol Nutr.