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Wolfram syndrome. Wolfram syndrome, also called DIDMOAD (d iabetes i nsipidus, d iabetes m ellitus, o ptic a trophy, and d eafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration.
Polygenic. Genetic cause and mechanism of type 2 diabetes is largely unknown. However, single nucleotide polymorphism (SNP) is one of many mechanisms that leads to increased risk for type 2 diabetes. To locate genes and loci that are responsible for the risk of type 2 diabetes, genome wide association studies (GWAS) was utilized to compare the ...
Complications of diabetes are secondary diseases that are a result of elevated blood glucose levels that occur in diabetic patients. These complications can be divided into two types: acute and chronic. Acute complications are complications that develop rapidly and can be exemplified as diabetic ketoacidosis (DKA), hyperglycemic hyperosmolar ...
Diabetes insipidus (DI) is a condition characterized by large amounts of dilute urine and increased thirst. [ 1 ] The amount of urine produced can be nearly 20 liters per day. [ 1 ] Reduction of fluid has little effect on the concentration of the urine. [ 1 ] Complications may include dehydration or seizures.
Type 2 diabetes makes up about 90% of cases of diabetes, with the other 10% due primarily to type 1 diabetesand gestational diabetes.[1] In type 1 diabetes, there is a lower total level of insulinto control blood glucose, due to an autoimmune-induced loss of insulin-producing beta cellsin the pancreas. [12][13]Diagnosis of diabetes is by blood ...
Diabetes mellitus, often known simply as diabetes, is a group of common endocrine diseases characterized by sustained high blood sugar levels. [ 10 ] [ 11 ] Diabetes is due to either the pancreas not producing enough insulin , or the cells of the body becoming unresponsive to the hormone's effects. [ 12 ]
Antidiuretic hormone (ADH) deficiency leads to the syndrome of diabetes insipidus (unrelated to diabetes mellitus): inability to concentrate the urine, leading to polyuria (production of large amounts of clear urine) that is low in solutes, dehydration and—in compensation—extreme thirst and constant need to drink , as well as hypernatremia ...
Speech disorder and/or developmental delay 2. Ophthalmic abnormalities other than rod-cone dystrophy (strabismus, cataract, astigmatism etc.) 3. Brachydactyly or Syndactyly 4. Polyuria and/or polydipsia (nephrogenic diabetes insipidus) 5. Ataxia, poor coordination, imbalance 6. Mild spasticity (especially lower limbs) 7. Diabetes mellitus 8.