1/15. Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia.liver transplantation may be indicated in patients with GSD type Ia when dietary treatment fails or when hepatic adenomas develop, because they carry a risk of liver cancer or severe intratumoral haemorrhage. Published reports on the results of liver transplantation in patients with GSD Ia include 10 patients and provide little information on long-term outcome. In particular, it is not known whether liver transplantation prevents renal failure due to focal segmental glomerulosclerosis. We report here on 3 patients with GSD Ia in whom liver transplantation was performed at 15, 17 and 23 years of age because of multiple hepatic adenomas in all 3 patients with a fear of malignant transformation, and of poor metabolic balance and severe growth retardation in the youngest one. Renal function was normal in all patients. During the 6-8 years following transplantation, the quality of life has 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 one patient, gouty attacks in another and focal segmental glomerulosclerosis with progressive renal insufficiency in the third. These results: (1) confirm that liver transplantation restores a normal metabolic balance in patients with GSD Ia, allows catch-up growth and improves the quality of life; (2) suggest that liver transplantation may be considered in teenagers with unresectable multiple adenomas because of a lack of clear-cut criteria to detect malignant transformation early; and (3) suggest that liver transplantation does not prevent focal segmental glomerulosclerosis associated with GSD Ia.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/15. Long-term follow-up of portacaval shunt in glycogen storage disease type 1B.In two girls with glycogen storage disease (GSD) type 1b, terminolateral portacaval shunt (PCS) with partial circular resection of the lobus quadratus of the liver was performed at the age of 12 and 10 years, respectively. At that time, the patients had a height of -3.1 and -1.7 SDS, respectively. PCS resulted in a spectacular growth spurt of 35 cm within the first 5 years after surgery in both of them. As first sign of puberty, breast enlargement started 2.5 years after PCS in both patients. Improved glucose tolerance was evidenced by increased levels of blood glucose and insulin after PCS. diet with raw cornstarch (CS), 2g/kg body weight four times daily, was started 8 years after PCS in patient 1, but initiated with nightly gastric feeding at the age of 2 years in patient 2, 8 years before PCS. Treatment with recombinant granulocyte colony-stimulating factor (rhGCSF), 6 microg/kg body weight every 36-48 h, was started 20 years after PCS in patient 1, but only 1 month before PCS in patient 2. Progressive development of up to 7-8 liver adenomas was observed after PCS, but without conclusive signs of malignancy on Ferrit MRI. The PCS is still open 23 and 7 years after PCS, respectively. Terminolateral PCS with partial circular resection of the lobus quadratus of the liver associated with dietary control and rhGCSF might still have a place in the treatment of GSD type 1b because it improves the tolerance to fasting and the quality of life and moreover yields excellent metabolic control. CONCLUSION: Treatment of glycogen storage disease type 1b by portacaval shunt might be considered in patients with height-for-age below the 3rd percentile occurring in spite of dietary control, or before considering liver transplantation which, if necessary, can still be performed after shunt surgery.- - - - - - - - - - ranking = 0.5keywords = life (Clic here for more details about this article) |
3/15. Henna causes life threatening haemolysis in glucose-6-phosphate dehydrogenase deficiency.Haemolytic crisis in glucose-6-phosphate dehydrogenase deficient individuals following topical application of henna occurred in four children: a female neonate (haemoglobin 50 g/l, serum bilirubin 700 micromol/l), who recovered after exchange transfusion; a male infant (haemoglobin 28 g/l) who died despite transfusion; and two preschool children (haemoglobin 40 and 41 g/l respectively).- - - - - - - - - - ranking = 2keywords = life (Clic here for more details about this article) |
4/15. hemolysis and hyperbilirubinemia in an African American neonate heterozygous for glucose-6-phosphate dehydrogenase deficiency.Despite recent case reports of bilirubin encephalopathy in African American glucose-6-phosphate dehydrogenase (G6PD)-deficient neonates, there is a misconception that, in african americans, G6PD deficiency need not be considered in the differential diagnosis of hyperbilirubinemia. We present a case of a hyperbilirubinemic African American female neonate in whom coexisting G6PD deficiency in the heterozygous state, and Gilbert's syndrome, were confirmed by dna analysis. hemolysis, predictive of the subsequent icterus, was documented by end-tidal carbon monoxide determinations at two time periods within the first 25 hours of life. A diagnosis of G6PD deficiency should be considered in African American neonates, females as well as males, with unexplained hemolysis or hyperbilirubinemia.- - - - - - - - - - ranking = 0.5keywords = life (Clic here for more details about this article) |
5/15. Treatment of chronic wounds by local delivery of granulocyte-macrophage colony-stimulating factor in patients with neutrophil dysfunction.Chronic wounds are associated with considerable morbidity and prolonged hospitalizations. The availability of recombinant growth factors and cytokines provides a new modality for treatment of recalcitrant wounds. granulocyte-macrophage colony-stimulating factor (GM-CSF), a growth protein for hematopietic cells, also enhances neutrophil and monocyte function and promotes keratinocyte proliferation. In three patients with inherited disorders associated with leukocyte dysfunction and non-healing wounds, topical application of GM-CSF resulted in complete wound closure within 1 to 4 weeks. A subcutaneous (s.c.) infusion pump for the local s.c. delivery of GM-CSF was also found to enhance healing. Local application of GM-CSF may thus promote wound closure in patients with impaired wound healing.- - - - - - - - - - ranking = 0.5keywords = life (Clic here for more details about this article) |
6/15. A 20-year follow-up of a male patient with type Ia glycogen storage disease.Glycogen storage diseases (GSDs) or glycogenoses comprise several rare inherited diseases caused by abnormalities of the enzymes that regulate the synthesis or degradation of glycogen. We report on a male patient with type Ia GSD (GSD Ia) who was followed-up for more than 20 years. He had been diagnosed with GSD Ia based on biochemical tests and the glucose-6-phosphatase (G6Pase) enzyme assay from a liver biopsy at 6 years old, due to problems of hepatomegaly, growth retardation, and recurrent hypoglycemic episodes. The introduction of uncooked cornstarch improved his quality of life only in the first 8-year follow-up period. At 17 years old, gouty arthritis with multiple tophi and generalized xanthomatosis developed. Later, hepatocellular adenoma, nephrolithiasis, and gastrointestinal bleeding occurred at the age of 20, 23, and 24 years, respectively. At 26 years old, he suffered from acute renal failure and polyradiculoplexopathy. The problem of delayed puberty persisted. The story of this patient illustrates the multisystemic nature of GSD Ia and highlights the need for careful dietary therapy and long-term follow-up.- - - - - - - - - - ranking = 0.5keywords = life (Clic here for more details about this article) |
7/15. granulocyte colony-stimulating factor corrects the neutropenia associated with glycogen storage disease type Ib.A young woman with glycogen storage disease, type Ib, and chronic neutropenia had severe recurrent infections. In a life-threatening situation, treatment with granulocyte colony-stimulating factor (G-CSF) resulted in the prompt correction of neutropenia. Subsequently, daily G-CSF therapy has allowed the maintenance of a normal neutrophil count and marked clinical improvement over a period of 18 months. The spectrum of neutropenic conditions which are responsive to G-CSF should include this inherited metabolic disorder.- - - - - - - - - - ranking = 0.5keywords = life (Clic here for more details about this article) |
8/15. Granulocyte and granulocyte-macrophage colony-stimulating factors for treatment of neutropenia in glycogen storage disease type Ib.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.- - - - - - - - - - ranking = 0.5keywords = life (Clic here for more details about this article) |
9/15. growth in adulthood after liver transplantation for glycogen storage disease type i.Continuation of linear growth late into the third decade of life is rarely observed. This report describes a 27-year-old man with delayed growth and sexual maturation secondary to glycogen storage disease type i who grew 5.3 cm after orthotopic liver transplantation. Sequential improvement in selected measures of metabolic control (blood glucose, lactate, and bicarbonate concentrations) and growth-promoting peptides (testosterone and insulinlike growth factor I) were documented after transplantation and before the increase in height. Potential increases in final stature may be present in adult patients with underlying metabolic disease and delayed skeletal maturation.- - - - - - - - - - ranking = 0.5keywords = life (Clic here for more details about this article) |
10/15. Hematologic emergencies in children.Hematologic emergencies may be defined as sudden or unexpected life-threatening events in clinical hematology and oncology which require immediate action predominantly based on clinical judgements and supported only by investigations that can be expected to produce results rapidly. It is convenient to classify these emergencies according to disorders affecting the erythrocytes; leukocytes; platelets; hemostasis; defence mechanisms against infection; the respiratory system; and emergencies related to drugs used for the treatment of neoplasia. A proposed classification is outlined. Part of treatment of hematologic emergencies is to ensure that the cicumstances which caused them will not recur in the same patient or those with similar disorders.- - - - - - - - - - ranking = 0.5keywords = life (Clic here for more details about this article) |
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