The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
As of 2015, an estimated 415 million people had diabetes worldwide, with type 2 DM making up about 90% of the cases. This represents 8.3% of the adult population, with equal rates in both women and men. As of 2014, trends suggested the rate would continue to rise. Diabetes at least doubles a person's risk of early death. From 2012 to 2015, approximately 1.5 to 5.0 million deaths each year resulted from diabetes. The global economic cost of diabetes in 2014 was estimated to be US$612 billion. In the United States, diabetes cost $245 billion in 2012.
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Childhood obesity rates are rising, and so are the rates of type 2 diabetes in youth. More than 75% of children with type 2 diabetes have a close relative who has it, too. But it’s not always because family members are related; it can also be because they share certain habits that can increase their risk. Parents can help prevent or delay type 2 diabetes by developing a plan for the whole family:
Most pediatric patients with diabetes have type 1 diabetes mellitus (T1DM) and a lifetime dependence on exogenous insulin. Diabetes mellitus (DM) is a chronic metabolic disorder caused by an absolute or relative deficiency of insulin, an anabolic hormone. Insulin is produced by the beta cells of the islets of Langerhans located in the pancreas, and the absence, destruction, or other loss of these cells results in type 1 diabetes (insulin-dependent diabetes mellitus [IDDM]). A possible mechanism for the development of type 1 diabetes is shown in the image below. (See Etiology.)
The primary complications of diabetes due to damage in small blood vessels include damage to the eyes, kidneys, and nerves. Damage to the eyes, known as diabetic retinopathy, is caused by damage to the blood vessels in the retina of the eye, and can result in gradual vision loss and eventual blindness. Diabetes also increases the risk of having glaucoma, cataracts, and other eye problems. It is recommended that diabetics visit an eye doctor once a year. Damage to the kidneys, known as diabetic nephropathy, can lead to tissue scarring, urine protein loss, and eventually chronic kidney disease, sometimes requiring dialysis or kidney transplantation. Damage to the nerves of the body, known as diabetic neuropathy, is the most common complication of diabetes. The symptoms can include numbness, tingling, pain, and altered pain sensation, which can lead to damage to the skin. Diabetes-related foot problems (such as diabetic foot ulcers) may occur, and can be difficult to treat, occasionally requiring amputation. Additionally, proximal diabetic neuropathy causes painful muscle atrophy and weakness.
The 1989 "St. Vincent Declaration" was the result of international efforts to improve the care accorded to those with diabetes. Doing so is important not only in terms of quality of life and life expectancy but also economically – expenses due to diabetes have been shown to be a major drain on health – and productivity-related resources for healthcare systems and governments.
What is type 2 diabetes and prediabetes? Behind type 2 diabetes is a disease where the body’s cells have trouble responding to insulin – this is called insulin resistance. Insulin is a hormone needed to store the energy found in food into the body’s cells. In prediabetes, insulin resistance starts growing and the beta cells in the pancreas that release insulin will try to make even more insulin to make up for the body’s insensitivity. This can go on for a long time without any symptoms. Over time, though, the beta cells in the pancreas will fatigue and will no longer be able to produce enough insulin – this is called “beta burnout.” Once there is not enough insulin, blood sugars will start to rise above normal. Prediabetes causes people to have higher-than-normal blood sugars (and an increased risk for heart disease and stroke). Left unnoticed or untreated, blood sugars continue to worsen and many people progress to type 2 diabetes. After a while, so many of the beta cells have been damaged that diabetes becomes an irreversible condition.
Fatigue and muscle weakness occur because the glucose needed for energy simply is not metabolized properly. Weight loss in type 1 diabetes patients occurs partly because of the loss of body fluid and partly because in the absence of sufficient insulin the body begins to metabolize its own proteins and stored fat. The oxidation of fats is incomplete, however, and the fatty acids are converted into ketone bodies. When the kidney is no longer able to handle the excess ketones the patient develops ketosis. The overwhelming presence of the strong organic acids in the blood lowers the pH and leads to severe and potentially fatal ketoacidosis.
Although many of the symptoms of type 1 and type 2 diabetes are similar, they present in very different ways. Many people with type 2 diabetes won’t have symptoms for many years. Then often the symptoms of type 2 diabetes develop slowly over the course of time. Some people with type 2 diabetes have no symptoms at all and don’t discover their condition until complications develop.
Low blood sugar (hypoglycemia), is common in people with type 1 and type 2 DM. Most cases are mild and are not considered medical emergencies. Effects can range from feelings of unease, sweating, trembling, and increased appetite in mild cases to more serious effects such as confusion, changes in behavior such as aggressiveness, seizures, unconsciousness, and (rarely) permanent brain damage or death in severe cases. Moderately low blood sugar may easily be mistaken for drunkenness; rapid breathing and sweating, cold, pale skin are characteristic of low blood sugar but not definitive. Mild to moderate cases are self-treated by eating or drinking something high in sugar. Severe cases can lead to unconsciousness and must be treated with intravenous glucose or injections with glucagon.
Classic symptoms of DM are polyuria, polydipsia, and weight loss. In addition, patients with hyperglycemia often have blurred vision, increased food consumption (polyphagia), and generalized weakness. When a patient with type 1 DM loses metabolic control (such as during infections or periods of noncompliance with therapy), symptoms of diabetic ketoacidosis occur. These may include nausea, vomiting, dizziness on arising, intoxication, delirium, coma, or death. Chronic complications of hyperglycemia include retinopathy and blindness, peripheral and autonomic neuropathies, glomerulosclerosis of the kidneys (with proteinuria, nephrotic syndrome, or end-stage renal failure), coronary and peripheral vascular disease, and reduced resistance to infections. Patients with DM often also sustain infected ulcerations of the feet, which may result in osteomyelitis and the need for amputation.
A number of studies have looked for relationships between sugar and diabetes risk. A 2017 meta-analysis, based on nine reports of 15 cohort studies including 251,261 participants, found no significant effect of total sugars on the risk of developing type 2 diabetes.7 Those consuming the most sugar actually had a 9 percent lower risk of developing diabetes, compared with those consuming the least sugar, although the difference was not statistically significant (meaning that it could have been a chance result). Similarly, fructose was not significantly associated with diabetes risk. Sucrose appeared to have a significant protective association. Those consuming the most sucrose had 11 percent less risk of developing type 2 diabetes, compared with those consuming the least.
Diabetes mellitus occurs throughout the world but is more common (especially type 2) in more developed countries. The greatest increase in rates has however been seen in low- and middle-income countries, where more than 80% of diabetic deaths occur. The fastest prevalence increase is expected to occur in Asia and Africa, where most people with diabetes will probably live in 2030. The increase in rates in developing countries follows the trend of urbanization and lifestyle changes, including increasingly sedentary lifestyles, less physically demanding work and the global nutrition transition, marked by increased intake of foods that are high energy-dense but nutrient-poor (often high in sugar and saturated fats, sometimes referred to as the "Western-style" diet). The global prevalence of diabetes might increase by 55% between 2013 and 2035.
Doctors, pharmacists, and other health-care professionals use abbreviations, acronyms, and other terminology for instructions and information in regard to a patient's health condition, prescription drugs they are to take, or medical procedures that have been ordered. There is no approved this list of common medical abbreviations, acronyms, and terminology used by doctors and other health- care professionals. You can use this list of medical abbreviations and acronyms written by our doctors the next time you can't understand what is on your prescription package, blood test results, or medical procedure orders. Examples include:
In type 1 diabetes (formerly called insulin-dependent diabetes or juvenile-onset diabetes), the body's immune system attacks the insulin-producing cells of the pancreas, and more than 90% of them are permanently destroyed. The pancreas, therefore, produces little or no insulin. Only about 5 to 10% of all people with diabetes have type 1 disease. Most people who have type 1 diabetes develop the disease before age 30, although it can develop later in life.
You may be able to manage your type 2 diabetes with healthy eating and being active, or your doctor may prescribe insulin, other injectable medications, or oral diabetes medicines to help control your blood sugar and avoid complications. You’ll still need to eat healthy and be active if you take insulin or other medicines. It’s also important to keep your blood pressure and cholesterol under control and get necessary screening tests.
Type 1 DM is caused by autoimmune destruction of the insulin-secreting beta cells of the pancreas. The loss of these cells results in nearly complete insulin deficiency; without exogenous insulin, type 1 DM is rapidly fatal. Type 2 DM results partly from a decreased sensitivity of muscle cells to insulin-mediated glucose uptake and partly from a relative decrease in pancreatic insulin secretion.
Studies show that good control of blood sugar levels decreases the risk of complications from diabetes. Patients with better control of blood sugar have reduced rates of diabetic eye disease, kidney disease, and nerve disease. It is important for patients to measure their measuring blood glucose levels. Hemoglobin A1c can also be measured with a blood test and gives information about average blood glucose over the past 3 months.
Though not routinely used any longer, the oral glucose tolerance test (OGTT) is a gold standard for making the diagnosis of type 2 diabetes. It is still commonly used for diagnosing gestational diabetes and in conditions of pre-diabetes, such as polycystic ovary syndrome. With an oral glucose tolerance test, the person fasts overnight (at least eight but not more than 16 hours). Then first, the fasting plasma glucose is tested. After this test, the person receives an oral dose (75 grams) of glucose. There are several methods employed by obstetricians to do this test, but the one described here is standard. Usually, the glucose is in a sweet-tasting liquid that the person drinks. Blood samples are taken at specific intervals to measure the blood glucose.
Keeping track of the number of calories provided by different foods can become complicated, so patients usually are advised to consult a nutritionist or dietitian. An individualized, easy to manage diet plan can be set up for each patient. Both the American Diabetes Association and the American Dietetic Association recommend diets based on the use of food exchange lists. Each food exchange contains a known amount of calories in the form of protein, fat, or carbohydrate. A patient's diet plan will consist of a certain number of exchanges from each food category (meat or protein, fruits, breads and starches, vegetables, and fats) to be eaten at meal times and as snacks. Patients have flexibility in choosing which foods they eat as long as they stick with the number of exchanges prescribed.
According to the Mayo Clinic, doctors may use other tests to diagnose diabetes. For example, they may conduct a fasting blood glucose test, which is a blood glucose test done after a night of fasting. While a fasting blood sugar level of less than 100 milligrams per deciliter (mg/dL) is normal, one that is between 100 to 125 mg/dL signals prediabetes, and a reading that reaches 126 mg/dL on two separate occasions means you have diabetes.