Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0020505 (hyperphagia)
 6,116 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Maturity-onset diabetes of the young (MODY) is a rare form of juvenile diabetes mellitus, defined by early onset, absence of ketosis, non-insulin-dependent diabetes and autosomal dominant inheritance. Advances in molecular genetic analysis have identified mutations accounting for different MODY subtypes, all of them associated with defects of insulin secretion. We present a case of a nine year-old boy, admitted to our outpatient clinic because of mild and intermittent osmotic symptoms (polyuria, polyphagia and polydipsia) and persistently high values of fasting blood glucose in the last year. He had a family history of diabetes in three consecutive generations compatible with autossomal dominant inheritance. His height was 138.5 cm (90th centile) and his weight was 33.5 Kg (90th centile). General examination was unremarkable, in a prepubertal boy. A standard oral glucose tolerance test was performed. The fasting blood glucose was 118 mg/dl with a two hour value of 160 mg/dl. ICA, IAA and GAD autoantibodies were undetectable. He started on diet therapy, keeping his fasting blood glucose measurements on the upper limits of normal and HbA1c in the normal range. He was diagnosed as having MODY 2 on a clinical basis, as it is not possible to perform molecular analysis of this pathology in Portugal. As MODY is recently thought to account for 2-5% of all cases of type 2 Diabetes Mellitus it is important to consider it as a possible diagnosis in children who present with incidental hyperglycaemia. Molecular genetic testing is very important as it enables us to make a firm diagnosis of MODY, to define a follow up plan and to reassure patients families, once the prognosis is significantly different among the different sub-types of MODY. We emphathize the need of creating national and international reference centres where such testing can be done.
 ...
PMID:[Mature onset diabetes of the young (MODY)]. 1268 Feb 90

Diabetic patients tend to show a reduced QOL because of macrovascular complications such as cerebral and myocardial infarction, as well as marked microvascular complications. It is important for the prevention and amelioration of these complications to diagnose diabetes mellitus (DM) early and effectively control glycemia, the blood pressure, lipids, and body weight. We examine fasting plasma glucose (FPG) and HbA1c for a diagnosis of diabetes at any time, but examine 75gOGTT for impaired glucose tolerance or DM. Examination to be necessary for a pathologic classification of DM is islet-associated antibody, namely, GAD antibody, IA-2 antibody and the measurement of IRI, blood/urinary C-peptide to evaluate insulin secretory ability. HOMA-R is an index of insulin resistance, and HOMA-beta is an index of insulin secretory ability which can be calculated from FPG and IRI, but we need to be aware that the insulin secretory ability of the patient may have decreased already. HbA1c is a standard index of glycemic control, but glycoalbumin measurement is suitable for disease states such as anemia and liver cirrhosis, and 1,5-anhydroglucitol is suitable for detecting changes in levels of urinary glucose. Examinations necessary for the evaluation of diabetic nephropathy are microalbumin and 24hr Ccr in the urine, but eGFR has been recently recommended instead of 24hr Ccr. We measure small dense LDL-C, RLP-C, and Lp (a) as well as conduct conventional lipid analyses for dislipidemia combined with DM for qualitative as well as quantitative data. Metabolic syndrome is caused by the life habits of overeating and lack of exercise, leading to atherosclerotic disease, because insulin resistance advances from visceral fat accumulation. TNF-alpha and leptin levels as insulin resistance advances and adiponectin levels as insulin resistance improves are measured as adipocytokines secreted by visceral fat tissue.
 ...
PMID:[Clinical laboratory examination of diabetic patients in conjunction with metabolic syndrome]. 2003 Jan 75

To explore the clinical profile and laboratory changes in three patients with diabetes mellitus treated with recombinant human growth hormone (rhGH). Results showed that the patient in the first case was diagnosed as T1DM according to the classical course of disease, weight loss, polyuria, polydispsia, polyphagia, and positive GAD-Ab. The second patient's plasma glucose and urine glucose were at a high level, then stored immediately with the negative OGTT. But, the level of insulin increased significantly suggesting there is insulin resistance. In the last case, fasting plasma glucose level was higher than 7.0 mmol/l several times. The level of HbA1c increased. In an oral glucose tolerance test (OGTT), fasting glucose > 7.0 mmol/l, plasma glucose < 7.8 mmol/l two hours after a 75 g oral glucose load. We postulate that the higher than expected incidence of type 2 diabetes mellitus with GH treatment may be an acceleration of the disorder in predisposed individuals. The rhGH therapy may eventually induce transitory glucose metabolic disorder in a very small proportion of patients, which was restored gradually after the discontinuance of rhGH.
...
PMID:Recombinant human growth hormone in treatment of diabetes: report of three cases and review of relative literature. 2622 4

We report the case of a 52-year-old woman with Prader-Willi syndrome (PWS) and diabetes. Her diabetes was managed with sulfonylurea followed by premixed insulin; however, her glycemic control gradually worsened and became unstable. Her urine and blood C-peptide levels were undetectable. She tested positive for anti-GAD antibodies, and had a high-risk genotype-DRB1*09:01-DQB1*03:03-for slowly progressive insulin-dependent diabetes mellitus (SPIDDM) in the HLA-DR/DQ region, confirming the diagnosis of SPIDDM. Dysglycemia in PWS is thought to be attributable to hyperphagia and obesity. However, the possibility of SPIDDM might be considered if the insulin secretory capacity is almost lost in patients with PWS.
 ...
PMID:A Case of Prader-Willi Syndrome with Slowly Progressive Insulin-dependent Diabetes Mellitus. 3325 Apr 57