Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the body especially within the bone marrow, spleen and liver. The symptoms and physical findings associated with Gaucher disease vary greatly from case to case. Some individuals will develop few or no symp  Read More

Primary aldosteronism (al-DOS-tuh-ro-niz-um) is a type of hormonal disorder that leads to high blood pressure. Your adrenal glands produce a number of essential hormones. One of these is aldosterone, which balances sodium and potassium in your blood. In primary aldosteronism, your adrenal glands produce too much aldosterone, causing you to lose potassium and retain sodium. The excess sodium in turn holds on to water, increasing your bl  Read More

Ulcerative colitis (UL-sur-uh-tiv koe-LIE-tis) is an inflammatory bowel disease (IBD) that causes inflammation and ulcers (sores) in your digestive tract. Ulcerative colitis affects the innermost lining of your large intestine (colon) and rectum. Symptoms usually develop over tim  Read More

Autosomal dominant interstitial kidney disease describes a group of diseases affecting solely the proper function of the kidney and having the following characteristics: They are inherited in an autosomal dominant manner; kidney disease develops, and dialysis or kidney transplant is required some time between the 4th and 7th decade of life; and several types of the disease are associated with elevated uric acid concentrations in blood and gout  Read More

Diabetes facts Diabetes is a chronic condition associated with abnormally high levels of sugar (glucose) in the blood. Insulin produced by the pancreas lowers blood glucose. Absence or insufficient production of insulin causes diabetes. The two types of diabetes are referred to as type 1 and type 2. Former names for these conditions were insulin-dependent and non-insulin-dependent diabetes, or juven  Read More

Diabetes and foot problems facts Two main conditions, peripheral artery disease (PAD) and peripheral neuropathy, are responsible for the increased risk of foot problems in people with diabetes. People with diabetes have an increased risk of ulcers and damage to the feet. A number of different kinds of foot problems can occur in people with diabetes. These include bunions, corns, calluses, hammertoes, fungal i  Read More

Gestational diabetes is diabetes diagnosed for the first time during pregnancy (gestation). Like other types of diabetes, gestational diabetes affects how your cells use sugar (glucose). Gestational diabetes causes high blood sugar that can affect your pregnancy and your baby's h  Read More

What is the difference between diabetes insipidus and diabetes mellitus Diabetes insipidus should not be confused with diabetes mellitus (DM), which results from insulin deficiency or resistance leading to high blood glucose, also called blood sugar. Diabetes insipidus and diabetes mellitus are unrelated, although they can have similar signs and symptoms, like excessive thirst and excessive urination. Diabetes mellitus is far m  Read More

Nephrogenic diabetes insipidus (NDI) is a rare kidney disorder that may be inherited or acquired. NDI is not related to the more common diabetes mellitus (sugar diabetes), in which the body does not produce or properly use insulin. NDI is a distinct disorder caused by complete or partial resistance of the kidneys to arginine vasopressin (AVP). Vasopressin is an antidiuretic hormone used by the kidney to manage water balance in the body. NDI ca  Read More

Urine tests for diabetes facts Urine tests may be done in people with diabetes to evaluate severe hyperglycemia (severe high blood sugar) by looking for ketones in the urine. Ketones are a metabolic product produced when fat is metabolized. Ketones increase when there is insufficient insulin to use glucose for energy. Urine tests are also done to look for the presence of protein in the urine, which is a sign of  Read More

Gestational diabetes is diabetes diagnosed for the first time during pregnancy (gestation). Like other types of diabetes, gestational diabetes affects how your cells use sugar (glucose). Gestational diabetes causes high blood sugar that can affect your pregnancy and your baby's health. While any pregnancy complication is concerning, there's good news. During pregnancy you can help control gesta  Read More

Type 2 diabetes is an impairment in the way the body regulates and uses sugar (glucose) as a fuel. This long-term (chronic) condition results in too much sugar circulating in the bloodstream. Eventually, high blood sugar levels can lead to disorders of the circulatory, nervous an  Read More

Achard-Thiers syndrome is a rare disorder that occurs primarily in postmenopausal women and is characterized by type 2 (insulin-resistant) diabetes mellitus and signs of androgen excess. The exact cause of this syndrome is unknown.  Read More

Diabetic ketoacidosis is a serious complication of diabetes that occurs when your body produces high levels of blood acids called ketones.  Read More

Neuropathy is damage to nerves, and diabetic neuropathy is damage to nerves that occurs as a result of diabetes. Diabetes is thought to damage nerves as a result of prolonged elevated levels of blood glucose. Diabetic neuropathy can affect different parts of the body, and symptoms can range from mild to severe. Diabetic neuropathy is the most common complication of diabetes. What are the types of diabetic neuropathy? There are  Read More

Wolfram syndrome is the inherited association of childhood-onset diabetes mellitus and progressive-onset optic atrophy. All people affected by Wolfram syndrome have juvenile-onset diabetes mellitus and degeneration of the optic nerve (optic atrophy). In addition, about 70 to 75% of those affected develop diabetes insipidus and about two-thirds develop auditory nerve deafness. Another name for the syndrome is DIDMOAD, which refers to diabetes i  Read More

Forbes disease (GSD-III) is one of several glycogen storage disorders (GSD) that are inherited as autosomal recessive traits. Symptoms are caused by a lack of the enzyme amylo-1,6 glucosidase (debrancher enzyme). This enzyme deficiency causes excess amounts of an abnormal glycogen (the stored form of energy that comes from carbohydrates) to be deposited in the liver, muscles and, in some cases, the heart. There are two forms of thi  Read More

Fructosuria is a rare but benign inherited metabolic disorder. It is characterized by the excretion of fruit sugar (fructose) in the urine. Normally, no fructose is excreted in the urine. This condition is caused by a deficiency of the enzyme fructokinase in the liver. This enzyme is needed for the synthesis of glycogen (the body's form of stored energy) from fructose. The presence of fructose in the blood and urine may lead to an incorrect di  Read More

Fucosidosis is a rare genetic disorder characterized by deficiency of the enzyme alpha-L-fucosidase, which is required to break down (metabolize) certain complex compounds (e.g., fucose-containing glycolipids or fucose-containing glycoproteins). Fucose is a type of the sugar required by the body to perform certain functions (essential sugar). The inability to breakdown fucose-containing compounds results in their accumulation in various tissue  Read More

Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency (G6PDD) is an inherited, sex-linked, metabolic disorder characterized by an enzyme defect that leads to the breakdown of red blood cells (hemolysis) upon exposure to stresses associated with some bacterial infections or certain drugs. A deficiency of this enzyme may result in the premature destruction of red blood cells (an acute hemolytic anemia or a chronic spherocytic type) when an affecte  Read More

Hypogammaglobulinemia is a problem with the immune system that prevents it from making enough antibodies called immunoglobulins. Antibodies are proteins that help your body recognize and fight off foreign invaders like bacteria, viruses, and fungi. Without enough antibodies, you’re more likely to get infections. People with hypogammaglobulinemia can more easily catch pneumonia, meningitis, and other infections that a healthy immu  Read More

Gestational diabetes is diabetes, or high blood sugar levels, that develops during pregnancy. It occurs in about 4% of all pregnancies. It is usually diagnosed in the later stages of pregnancy and often occurs in women who have never had diabetes.  Read More

Forbes disease (GSD-III) is one of several glycogen storage disorders (GSD) that are inherited as autosomal recessive traits. Symptoms are caused by a lack of the enzyme amylo-1,6 glucosidase (debrancher enzyme). This enzyme deficiency causes excess amounts of an abnormal glycogen (the stored form of energy that comes from carbohydrates) to be deposited in the liver, muscles and, in some cases, the heart. There are two forms of thi  Read More

Andersen disease belongs to a group of rare genetic disorders of glycogen metabolism, known as glycogen storage diseases. Glycogen is a complex carbohydrate that is converted into the simple sugar glucose for the body's use as energy. Glycogen storage diseases are characterized by deficiencies of certain enzymes involved in the metabolism of glycogen, leading to an accumulation of abnormal forms or amounts of glycogen in various parts of the b  Read More

Hemolytic uremic syndrome (HUS) is a condition caused by the abnormal destruction of red blood cells. The damaged red blood cells clog the filtering system in the kidneys, which can lead to life-threatening kidney failure. HUS usually develops in children after five to 10 days of diarrhea — often bloody — caused by infection with certain strains of Escherichia coli (E. coli) bacteria. Adults also can develop  Read More

Hepatorenal syndrome (HRS) is a form of impaired kidney function that occurs in individuals with advanced liver disease. Individuals with hepatorenal syndrome do not have any identifiable cause of kidney dysfunction and the kidneys themselves are not structural damaged. Therefore, hepatorenal syndrome may be referred as a "functional" form of kidney impairment. In fact, if the kidney of an individual with hepatorenal syndrome were to be transp  Read More

Hyperlipoproteinemia type III, also known as dysbetalipoproteinemia or broad beta disease, is a rare genetic disorder characterized by improper breakdown (metabolism) of certain fatty materials known as lipids, specifically cholesterol and triglycerides. This results in the abnormal accumulation of lipids in the body (hyperlipidemia). Affected individuals may develop multiple yellowish, lipid-filled bumps (papules) or plaques on the skin (xant  Read More

High blood sugar (hyperglycemia) affects people who have diabetes. Several factors can contribute to hyperglycemia in people with diabetes, including food and physical activity choices, illness, nondiabetes medications, or skipping or not taking enough glucose-lowering medication  Read More

Hypoglycemia is the clinical syndrome that results from low blood sugar. The symptoms of hypoglycemia can vary from person to person, as can the severity. Classically, hypoglycemia is diagnosed by a low blood sugar with symptoms that resolve when the sugar level returns to the normal range. The medical term for blood sugar is blood glucose.  Read More

IgA nephropathy (nuh-FROP-uh-thee), also known as Berger's disease, is a kidney disease that occurs when an antibody called immunoglobulin A (IgA) lodges in your kidneys. This results in local inflammation that, over time, may hamper your kidneys' ability to filter wastes from your blood. IgA nephropathy usually progresses slowly over many years, but the course of the disease in each person is uncertain. Some people leak blood in their  Read More

Agammaglobulinemia is a group of inherited immune deficiencies characterized by a low concentration of antibodies in the blood due to the lack of particular lymphocytes in the blood and lymph. Antibodies are proteins (immunoglobulins, (IgM), (IgG) etc) that are critical and key components of the immune system. They are essential if the immune system is to do its job of fighting off bacteria, viruses, and other foreign substances that threaten  Read More

Insulin is a hormone that is produced by the beta cells of the pancreas. These cells are scattered throughout the pancreas in small clusters known as the islets of Langerhans. The insulin produced is released into the blood stream and travels throughout the body. Insulin is an essential hormone that has many actions within the body. Most actions of insulin are directed at metabolism (control) of carbohydrates (sugars and starches), lipids (fat  Read More

Bartter's syndrome (BS) is a group of conditions involving enlargement of certain kidney cells, blood that is more alkaline than normal, high levels of potassium and chloride in the urine, loss of potassium from the kidneys (renal potassium wasting), dehydration, muscle weakness, muscle cramps, frequent urination, and growth deficiency, potentially resulting in dwarfism. It is thought to be caused by a defect in the body's ability to reabsorb  Read More

Bilateral Renal Agenesis is the absence of both kidneys at birth. It is a genetic disorder characterized by a failure of the kidneys to develop in a fetus. This absence of kidneys causes a deficiency of amniotic fluid (Oligohydramnios) in a pregnant woman. Normally, the amniotic fluid acts as a cushion for the developing fetus. When there is an insufficient amount of this fluid, compression of the fetus may occur resulting in further malformat  Read More

The Course of Kidney Disease Diabetic kidney disease takes many years to develop. In some people, the filtering function of the kidneys is actually higher than normal in the first few years of their diabetes. Over several years, people who are developing kidney disease will have small amounts of the blood protein albumin begin to leak into their urine. This first stage of chronic kidney disease is called microalbuminuria. The k  Read More

Forbes disease (GSD-III) is one of several glycogen storage disorders (GSD) that are inherited as autosomal recessive traits. Symptoms are caused by a lack of the enzyme amylo-1,6 glucosidase (debrancher enzyme). This enzyme deficiency causes excess amounts of an abnormal glycogen (the stored form of energy that comes from carbohydrates) to be deposited in the liver, muscles and, in some cases, the heart. There are two forms of thi  Read More

A liver biopsy is a procedure in which a small needle is inserted into the liver to collect a tissue sample. This is performed as an office or outpatient procedure or during surgery. The tissue is then analyzed in a laboratory to help doctors diagnose a variety of disorders and diseases in the liver. A liver biopsy is most often performed to help identify the cause of: Persistent abnormal liver blood tests (liver enzymes).  Read More

Nephrogenic diabetes insipidus (NDI) is a rare kidney disorder that may be inherited or acquired. NDI is not related to the more common diabetes mellitus (sugar diabetes), in which the body does not produce or properly use insulin. NDI is a distinct disorder caused by complete or partial resistance of the kidneys to arginine vasopressin (AVP). Vasopressin is an antidiuretic hormone used by the kidney to manage water balance in the body. NDI ca  Read More

Diabetic Retinopathy is a complication of diabetes and a disorder of the light sensitive tissue of the eye (the retina). This condition is characterized by destructive changes in the blood vessels of the retina, which, if left unchecked, may lead to visual impairment or blindness. The severity of the damage to the retina is highly correlated with the length of time the patient has had diabetes.For reasons that are not well understo  Read More

Renal glycosuria, also known as renal glucosuria, is a rare condition in which the simple sugar glucose is eliminated (excreted) in the urine despite normal or low blood glucose levels. With normal kidney (renal) function, glucose is excreted in the urine only when there are abnormally elevated levels of glucose in the blood. However, in those with renal glycosuria, glucose is abnormally eliminated in the urine due to improper functioning of t  Read More

Familial hypophosphatemia is a rare inherited disorder characterized by impaired transport of phosphate and often altered vitamin-D metabolism in the kidneys. In addition, phosphate may not be well-absorbed in the intestines. The hypophosphatemia resulting from these impairments can lead to a skeletal defect called osteomalacia, which can be considered a softening of bones. Familial hypophosphatemia also results in rickets, a childhood bone di  Read More

Lymphomatoid granulomatosis is a rare disorder characterized by overproduction (proliferation) of white blood cells called lymphocytes (lymphoproliferative disorder). The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues. The lungs are most commonly affected in lymphomatoid granulomatosis. Symptoms often include cough, shortness of  Read More

Mucopolysaccharidoses, which are also known as mucopolysaccharide storage (MPS) diseases, are a group of rare genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes. The lysosomes are particles bound in membranes within cells that break down certain fats and carbohydrates (mucopolysaccharides) into simpler molecules. The accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a n  Read More

Risk factorsFactors that may increase the risk of thyroid cancer include: Female sex. Thyroid cancer occurs more often in women than in men. Exposure to high levels of radiation. Examples of exposure to high levels of radiation include radiation treatments to the head and neck and fallout from sources such as nuclear power plant accidents or weapons testing. Cert  Read More

Type 1 diabetes, once known as juvenile diabetes or insulin-dependent diabetes, is a chronic condition in which the pancreas produces little or no insulin. Insulin is a hormone needed to allow sugar (glucose) to enter cells to produce energy. Different factors, including genetics and some viruses, may contribute to type 1 diabetes. Although type 1 diabetes usually appears during childhood or adolescence, it can develop in adults.  Read More

Type 2 diabetes is an impairment in the way the body regulates and uses sugar (glucose) as a fuel. This long-term (chronic) condition results in too much sugar circulating in the bloodstream. Eventually, high blood sugar levels can lead to disorders of the circulatory, nervous and immune systems. In type 2 diabetes, there are primarily two interrelated problems at work. Your pancreas does not p  Read More

If you have diabetes, urine testing should be performed yearly to look for diabetic nephropathy -- kidney disease. A baseline creatinine blood test should also be done to determine your kidney function. Your health care provider will also check your blood pressure regularly, because control of high blood pressure is essential in slowing kidney disease. Blood pressure should be less than 130/80. Read about other symptoms of kidney disease in th  Read More

VACTERL association is a nonrandom association of birth defects that affects multiple median and para-median structures. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected children:(V) = (costo-) vertebral abnormalities(A) = anal atresia(C) = cardiac (heart) defects(TE) = tracheal-esophageal abnormalities, including atresia, stenosis an  Read More

Nephrogenic diabetes insipidus (NDI) is a rare kidney disorder that may be inherited or acquired. NDI is not related to the more common diabetes mellitus (sugar diabetes), in which the body does not produce or properly use insulin. NDI is a distinct disorder caused by complete or partial resistance of the kidneys to arginine vasopressin (AVP). Vasopressin is an antidiuretic hormone used by the kidney to manage water balance in the body. NDI ca  Read More

Nephrogenic diabetes insipidus (NDI) is a rare kidney disorder that may be inherited or acquired. NDI is not related to the more common diabetes mellitus (sugar diabetes), in which the body does not produce or properly use insulin. NDI is a distinct disorder caused by complete or partial resistance of the kidneys to arginine vasopressin (AVP). Vasopressin is an antidiuretic hormone used by the kidney to manage water balance in the body. NDI ca  Read More

VACTERL association is a nonrandom association of birth defects that affects multiple median and para-median structures. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected children:(V) = (costo-) vertebral abnormalities(A) = anal atresia(C) = cardiac (heart) defects(TE) = tracheal-esophageal abnormalities, including atresia, stenosis an  Read More

Wolfram syndrome is the inherited association of childhood-onset diabetes mellitus and progressive-onset optic atrophy. All people affected by Wolfram syndrome have juvenile-onset diabetes mellitus and degeneration of the optic nerve (optic atrophy). In addition, about 70 to 75% of those affected develop diabetes insipidus and about two-thirds develop auditory nerve deafness. Another name for the syndrome is DIDMOAD, which refers to diabetes i  Read More