1/18. The dietary treatment of hepatic glycogen synthetase deficiency.A child with glycogen synthetase deficiency has been treated for one year by more frequent feeding with a diet lower in carbohydrate and higher in protein than her previous diet. This treatment virtually abolished the overnight hyperketonaemia and daytime hyperglycaemia which occurred before treatment. On the new dietary regime the child has had no clinical symptoms of hypoglycaemia and her growth velocity has increased dramatically.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/18. Post-transplant diabetic ketoacidosis--a possible consequence of immunosuppression with calcineurin inhibiting agents: a case series.Post-transplant diabetes mellitus, a complication due to corticosteroids and the calcineurin inhibitors, cyclosporine and tacrolimus (FK506), is commonly regarded as a form of type-2 (adult-onset) diabetes mellitus. diabetic ketoacidosis, which requires relative insulin deficiency to impair fatty acid metabolism, is a complication of type-1 diabetes mellitus. We report three patients who presented with diabetic ketoacidosis post-transplant. All three patients presented with severe hyperglycemia, significant ketosis and metabolic acidosis of variable severity. One patient was a renal transplant recipient on a cyclosporine-based regimen. The other two patients were liver transplant recipients receiving either cyclosporine or tacrolimus-based immunosuppression. Both of the liver transplant recipients were found to have moderate to high serum levels of calcineurin inhibitors on presentation. The liver recipient on cyclosporine (Neoral) had a 4 hour post-dose level of 388 ng/ml and the patient on tacrolimus was found to have a trough level of 21.2 ng/ml. Our experience suggests that post-transplant diabetes mellitus, in association with calcineurin inhibition, may result in ketoacidosis either secondary to relative beta cell dysfunction, peripheral insulin resistance, or a combination of the two effects. Post-transplant diabetes mellitus can be an atypical form of adult-onset diabetes with features of both type I and type II diabetes mellitus.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
3/18. Paradoxical glucose-induced hyperkalemia. Combined aldosterone-insulin deficiency.Severe hyperkalemia associated with spontaneous hyperglycemia as well as with the intravenous infusions of glucose occurred in an insulin-requiring diabetic patient in the absence of potassium administration, the use of diuretics which inhibit urinary potassium excretion or acidemia. Metabolic balance studies revealed, in addition to diabets, the presence of isolated aldosterone deficiency of the hyporeninemic type. Intravenous glucose infusions (0.5 g/kg body weight) produced significant hyperkalemia but desoxycortisone acetate (DOCA) therapy (10 mg/day) prevented the glucose-induced hyperkalemia. In this patient, the serum potassium concentration increases after the intravenous infusions of glucose because there is insufficient aldosterone and insulin to reverse the transfer of potassium to the extracellular fluid which normally occurs after hypertonic infusions of glucose. Although DOCA replacement modifies the distribution of potassium in the extracellular fluid and blunts the hyperkalemic effect of intravenous infusions of glucose, a rise in the insulin level is required for the usual hypokalemic response to intravenously administered glucose. These studies illustrate the risk of raising blood glucose levels in patients with combined aldosterone and insulin deficiency and the tendency towards hyperkalemia in diabetic patients under certain clinical conditions.- - - - - - - - - - ranking = 1.2keywords = deficiency (Clic here for more details about this article) |
4/18. glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations.Although glycogen storage disease type 0 (GSD0) is included in the differential diagnosis of ketotic hypoglycemia, it usually is not considered in the evaluation of glucosuria or hyperglycemia. We describe two children with GSD0, confirmed by mutation analysis, who had glucosuria and hyperglycemia. Because of the variable presentation of this disorder and previous dependence on liver biopsy to confirm diagnosis, it is likely that GSD0 is underdiagnosed.- - - - - - - - - - ranking = 0.8keywords = deficiency (Clic here for more details about this article) |
5/18. lipoprotein lipase deficiency and transient diabetes mellitus in a neonate.lipoprotein lipase deficiency (LPLD) represents a rare ( < 1:100000), life-threatening neonatal condition, and a challenge for dietary management. We describe a neonate who developed diabetes mellitus as a feature of LPLD, without evidence of pancreatitis.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
6/18. Transient chylomicronemia preceding the onset of insulin-dependent diabetes in a young girl with no humoral markers of islet autoimmunity.OBJECTIVE: We investigated the possible causes of diabetes in a young child who presented with hyperglycemia associated with severe hypertriglyceridemia (>166 mmol/l), hypercholesterolemia (>38 mmol/l) and fasting chilomicrons. RESULTS: The patient did not have any of the HLA and autoantibody markers typically associated with type 1 diabetes. A glucose clamp failed to demonstrate insulin resistance (peripheral glucose utilization rate (M)=4.3 mg/kg per min) and there was no family history of type 2 diabetes or maturity onset diabetes in youth. Both fasting and stimulated c-peptide levels, including those in response to i.v. glucagon, were below the limit of detection. This is consistent with loss of beta-cell function. The family history did not reveal the existence of relatives with lipid abnormalities, coronary heart disease, and pancreatitis. We did not find any abnormality of plasma apoCII, lipoproteinlipase and hepatic lipase activities. The patients had a epsilon3/epsilon3 apoE genotype and she rapidly cleared an oral fat load after normalization of plasma lipids. CONCLUSIONS: The mild hyperglycemia seems an unlikely explanation for both the severe hypertriglyceridemia and chylomicronemia. A more plausible explanation is transient lipoproteinlipase deficiency. This rare condition, occasionally associated with a high-fat diet, could have caused the rapid and dramatic hypertriglyceridemia observed in this patient, which in turn might have led to the beta-cell destruction by direct lipid toxicity.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
7/18. Profound hypokalemia in diabetic ketoacidosis: a therapeutic challenge.OBJECTIVE: To describe profound hypokalemia in a comatose patient with diabetic ketoacidosis. methods: We present a case report, review the mechanisms for the occurrence of hypokalemia in diabetic ketoacidosis, and discuss its management in the setting of hyperglycemia and hyperosmolality. RESULTS: A 22-year-old woman with a history of type 1 diabetes mellitus was admitted in a comatose state. Laboratory tests revealed a blood glucose level of 747 mg/dL, serum potassium of 1.9 mEq/L, pH of 6.8, and calculated effective serum osmolality of 320 mOsm/kg. She was intubated and resuscitated with intravenously administered fluids. Intravenous administration of vasopressors was necessary for stabilization of the blood pressure. Intravenous infusion of insulin was initiated to control the hyperglycemia, and repletion of total body potassium stores was undertaken. A total of 660 mEq of potassium was administered intravenously during the first 12.5 hours. Despite such aggressive initial repletion of potassium, the patient required 40 to 80 mEq of potassium daily for the next 8 days to increase the serum potassium concentration to normal. CONCLUSION: Profound hypokalemia, an uncommon initial manifestation in patients with diabetic ketoacidosis, is indicative of severe total body potassium deficiency. Under such circumstances, aggressive potassium repletion in a comatose patient must be undertaken during correction of other metabolic abnormalities, including hyperglycemia and hyperosmolality. Intravenously administered insulin should be withheld until the serum potassium concentration is (3)3.3 mEq/L.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
8/18. Permanent neonatal diabetes with arthrogryposis multiplex congenita and neurogenic bladder - a new syndrome?Neonatal diabetes mellitus is a rare (1/400 000 newborns) but potentially devastating condition, which may be transient or permanent; typical symptoms occur within the first 4 wk of life. The transient form is a developmental insulin production disorder that resolves postnatally. Fifty to 60% of cases can be seen as transient form. Cases that require lifelong insulin therapy can be described as permanent condition. This fraction of cases is less common than the transient form. There are no clinical features that can predict whether a neonate with diabetes mellitus but no other dysmorphology will eventually have permanent neonatal diabetes mellitus (PNDM) or transient neonatal diabetes mellitus. Some metabolic or genetic defects such as complete deficiency of glucokinase or heterozygous activating mutations of KCNJ11, encoding Kir6.2, were found in patients with PNDM. A preterm female infant with a gestational age of 36 wk was admitted to the neonatal intensive care unit in the first hours of life due to prematurity and intra-uterine growth retardation. She was diagnosed as having arthrogryposis multiplex congenita on the first day. hyperglycemia was detected on the third day of life, and she required insulin treatment. The patient is now 6 yr old with PNDM, arthrogryposis multiplex, neurogenic bladder, immune deficiency, constipation, and ichthyosis. Is this a new form of neonatal diabetes mellitus?- - - - - - - - - - ranking = 0.4keywords = deficiency (Clic here for more details about this article) |
9/18. Hyperglycaemia complicating haemolytic uraemic syndrome.The occurrence of hyperglycaemia and insulin deficiency in a young child receiving peritoneal dialysis during the course of haemolytic uraemic syndrome (HUS) is described. This unusual complication may have been due to microvascular disease involving the pancreas. plasma glucose should be monitored during HUS, particularly if dialysis with fluids containing high dextrose concentrations is required.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
10/18. Transient hyperglycemia during abdominal aortic surgery.A 64-year-old man undergoing abdominal aortic aneurysm repair with no history of diabetes mellitus had an episode of marked hyperglycemia during surgery. The peak concentration of glucose in plasma was 43.2 mmol/L. This hyperglycemia responded immediately to administration of 30 units of regular insulin. Factors involved in the hyperglycemia included surgical stress, multiple medications, and the anesthetic used (isoflurane), but do not fully account for the magnitude of the increase in glucose. The data suggest that the patient may have had an underlying insulin deficiency, which was unmasked by the stress of surgery.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
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