GLUCOGENOSIS TIPO 1B PDF

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Alternative titles; symbols. Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas summary by Lei et al. Burchell et al.

The patient with complete type Ia had had unexplained hepatomegaly and a bleeding diathesis since the age of 7 years and gout since age He had spider angiomas, xanthomas, gouty tophi, severe hypoglycemia, and compensated metabolic acidosis.

The diagnosis was not made until he presented with hepatocellular carcinoma. The 2 patients with partial type Ia had low or absent blood-glucose response to glucagon. Their hypoglycemic symptoms occurred with exercise, suggesting that they were unable to respond by increasing their hepatic glucose production above a certain level.

In both cases, symptoms resolved after the introduction of frequent meals high in cornstarch, a treatment proposed by Chen et al. Of 2 sisters with type Ia GSD, both of whom had multiple hepatic adenomas, malignancy developed in 1 at the age of 20 years. AFP levels were normal throughout the entire course of this patient, whereas the younger sister had elevated levels despite the absence of malignant lesions.

Chen et al. Fourteen of the 20 older patients aged 13 to 47 years had disturbed renal function manifested by persistent proteinuria; many also had hypertension, hematuria, or altered creatinine clearance. Progressive renal insufficiency developed in 6 of these 14 patients, leading to death from renal failure in 3.

At the onset of proteinuria, creatinine clearance was increased in 7 patients. Renal biopsies performed after an average of 10 years of proteinuria demonstrated focal segmental glomerulosclerosis. In studies of 11 patients, Restaino et al.

All 9 who were tested had evidence of impaired acid excretion. Restaino et al. Obara et al. Smit studied retrospectively 41 patients over 10 years of age from 5 different European centers.

Height was below the third percentile in Hypoglycemia was still reported in 6. Hepatomegaly was present in 39 of the 40 and was marked in at least 11 of these. Adenomas were detected in 11 of 39 patients.

Blood cholesterol concentration was elevated in 31 of 38 patients; blood triglycerides were elevated in 29 of 34 patients.

Blood uric acid concentration was elevated in 19 of 35 patients, of whom 12 were being treated with allopurinol. Pancreatitis in association with hypertriglyceridemia or severe metabolic acidosis was reported in isolated cases.

No progression of hepatic adenoma after pregnancy was observed. A huge adenoma was successfully removed surgically in a female patient. The mechanism of renal hyperfiltration manifested by elevated glomerular filtration rate remained unclear. It had been found in children below the age of 1 year. Stevenson et al. He was relatively asymptomatic in childhood and adolescence. His growth lagged behind that of his peers and puberty was delayed to age He was active in competitive sports in high school, however, and was inducted into military service at age Ito et al.

Bianchi found 50 published cases of hepatocellular adenoma in GSD I and 10 cases of hepatocellular carcinoma. Reitsma-Bierens pointed out that adult patients may have chronic renal disease.

Gout, nephropathy, and renal stones are not the only complications; after a period of 'silent' hyperfiltration, renal damage develops with proteinuria, hypertension and renal dysfunction. Biopsies of such patients show focal glomerulosclerosis. In a multicenter study in the United States and Canada, Talente et al.

Talente et al. Pizzo and Furukawa et al. In both patients there was no evidence of portal hypertension; both patients developed pulmonary hypertension in their second decade. Furukawa et al. Michels and Beaudet and Kikuchi et al. Ryan et al. The diagnosis had been made in childhood.

At the age of 10 years, she was seen with hepatomegaly, renomegaly, anemia, fasting hypoglycemia, hyperuricemia, hypertriglyceridemia, frequent epistaxis, and prolonged bleeding time. She was started on a regimen of frequent day feedings, which maintained adequate nutritional support for growth and development. However, puberty was delayed, with menarche at age When she was 23 years old, 2 liver masses consistent with hepatic adenomas were noted.

This resulted in a reduction in total liver size but not in the size of the adenomas. The patient's first pregnancy, at age 29, ended in an unexpected fetal death at 33 weeks 5 days of gestation. At autopsy the fetus had no gross abnormalities that could explain the cause of death. An unrecognized hypoglycemic episode in the mother was suggested as a possibility.

Two subsequent pregnancies were monitored in hospital after the thirty-third and thirty-fourth weeks, respectively. In the second pregnancy, cesarean section was performed at 35 weeks 4 days with delivery of a girl.

A repeat cesarean section at 35 weeks 2 days was performed for the third pregnancy with delivery of a boy. Both infants were healthy and appeared to be unaffected by von Gierke disease. Hepatic adenomas did not enlarge during the pregnancies. Wang et al. In GSDIa, 68 of patients were anemic at their last follow-up. Preadolescent patients tended to have milder anemia secondary to iron deficiency, but anemia of chronic disease predominated in adults.

The anemia improved or resolved in all 10 subjects who underwent resection of liver lesions. Minarich et al. In patients with GSDIb, 8 of 12 In patients with glycogen storage disease type Ia, serum triglyceride concentrations are markedly raised, whereas phospholipids and cholesterol levels are only moderately raised.

Despite these abnormalities, endothelial vascular dysfunction and atherosclerosis seem to be rare in such patients. Trioche et al. The distribution of each allele at the apoE locus was similar to that reported in the general population, whereas serum apoE concentrations were raised in the GSD Ia patients.

Mean apoE concentrations were They identified 5 novel mutations in the G6PC gene. The authors suggested that molecular genetic analysis is a reliable and convenient alternative to enzyme assay in fresh liver biopsy specimens for the diagnosis of GSD Ia.

Marcolongo et al. Since the results obtained with the light-scattering method were in accordance with conventional kinetic analysis of the microsomal glucosephosphatase system, Marcolongo et al.

Qu et al. Molecular analysis showed that the fetus was not affected. Emmett and Narins found no improvement with renal transplantation.

However, Selby et al. In infants with low levels of pancreatic activity, the therapy was ineffective. The indexes used were urinary excretion of amino acids, phosphate, and betamicroglobulin The use of diazoxide in patients with GSD type Ia was first described by Rennert and Mukhopadhyay for improvement of glucose homeostasis.

The treatment was abandoned because of skin rashes and later forgotten. Unaware of this early observation, Nuoffer et al. Both showed an impressive catch-up growth. This appeared to be due to prolongation of normoglycemia after meals and reduction of fasting lactic acidosis by the drug. Nuoffer et al. The resulting hyperpolarization of membranes decreases insulin release.

The drug was given at the beginning of meals and before going to bed. Faivre et al. Renal function was normal in all patients. During the 6 to 8 years following transplantation, the quality of life was initially greatly improved, with none of the previous dietary restraints and a spectacular increase in height. However, long-term complications included chronic hepatitis C in 1 patient, gouty attacks in another, and focal segmental glomerulosclerosis with progressive renal insufficiency in the third.

The experience was taken to indicate that liver transplantation does not prevent focal segmental glomerulosclerosis associated with GSD Ia. Weinstein et al. Urinary citrate excretion was unrelated to markers of metabolic control.

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2006, NĂºmero 5

Alternative titles; symbols. Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas summary by Lei et al. Burchell et al. The patient with complete type Ia had had unexplained hepatomegaly and a bleeding diathesis since the age of 7 years and gout since age He had spider angiomas, xanthomas, gouty tophi, severe hypoglycemia, and compensated metabolic acidosis. The diagnosis was not made until he presented with hepatocellular carcinoma.

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NCBI Bookshelf. Glycogen storage disease type I GSDI is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. Affected children typically have doll-like faces with fat cheeks, relatively thin extremities, short stature, and protuberant abdomen. Xanthoma and diarrhea may be present.

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The Spanish Association of Pediatrics has as one of its main objectives the dissemination of rigorous and updated scientific information on the different areas of pediatrics. Annals of Pediatrics is the Body of Scientific Expression of the Association and is the vehicle through which members communicate. The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years. CiteScore measures average citations received per document published.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Glycogenosis due to glucosephosphatase deficiency G6P type b, or glycogen storage disease GSD type 1b, is a type of glycogenosis due to G6P deficiency see this term. Prevalence is unknown. Clinical presentation is similar to that of glycogenosis due to G6P deficiency type a see this term.

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