Health and Fitness

 Polydipsia Overview Diabetes insipidus (die-uh-BEE-teze in-SIP-uh-dus) is an uncommon problem that causes the fluids in the body to become out of balance. That prompts the body to make large amounts of urine. It also causes a feeling of being very thirsty even after having something to drink. Diabetes insipidus also is called arginine vasopressin deficiency and arginine vasopressin resistance. While the terms "diabetes insipidus" and "diabetes mellitus" sound alike, the two conditions are not connected. Diabetes mellitus involves high blood sugar levels. It's a common condition, and it's often called simply diabetes. There's no cure for diabetes insipidus. But treatment is available that can ease its symptoms. That includes relieving thirst, lowering the amount of urine the body makes and preventing dehydration. Symptoms Symptoms of diabetes insipidus in adults include: Being very thirsty, often with a preference for cold water. Making large amounts of ...

 congenital plasminogen deficiency Summary Congenital type 1 plasminogen deficiency is a rare genetic disorder. Affected individuals develop thick growths, sometimes referred to as woody lesions or pseudomembranes, on the mucous membranes of the body. The mucous membranes are a moist layer of tissue that serves as a protective barrier that keeps these surfaces of the body from drying out. The mucous membranes most often affected in this disorder are those lining the inside of the eyelids and the front of the eye (called the conjunctiva) and the inside of the mouth. Other mucous membranes can be affected, including those lining the nose, middle ear, stomach and intestines (gastrointestinal tract), respiratory tract and the female genital tract. The disorder can also affect the kidneys and the brain. Without treatment, the abnormal growths that form on these surfaces can cause significant complications and they usually recur if they are removed without replacement of plasminogen. The...

 Congenital myasthenic syndromes Overview Congenital myasthenic syndromes are a group of rare hereditary conditions caused by a gene change that results in muscle weakness, which worsens with physical activity. Any muscles used for movement can be affected, including muscles that control speaking, chewing and swallowing, seeing and blinking, breathing, and walking. There are many types of congenital myasthenic syndromes, depending on which gene is affected. The changed gene also determines many of the signs and symptoms and severity of the condition. Congenital myasthenic syndromes are usually identified at birth or early childhood and are lifelong conditions. There is no cure for congenital myasthenic syndromes. Medications are generally an effective treatment for muscle weakness symptoms. Which medication works depends on which gene is identified as the cause of the congenital myasthenic syndrome. Rarely, some children may have a mild form that doesn't need treatment. Symptoms Co...

Introduction CLD is rare, making it difficult to predict exactly how it will affect someone who is newly diagnosed. It is one of several conditions that include early-onset obesity, and these conditions can be difficult to distinguish from each other without a careful physical examination and genetic testing. Summary Congenital leptin deficiency (CLD) is a rare, inherited condition that affects how the body processes energy, responds to food and stores fat. Infants with CLD are constantly hungry and quickly gain weight and become obese. Children with CLD have extreme hunger (hyperphagia), low energy and abnormal behaviors related to food. People affected with CLD produce little or no sex hormones (hypogonadotropic hypogonadism) resulting in late or absent puberty and infertility. CLD is caused by changes (pathogenic variants or mutations) in the LEP gene, which is responsible for making a protein called leptin. Leptin is important for regulating appetite and growth of body fat. This co...

 Congenital Lactic Acidosis  DISEASE OVERVIEW Lactate is a chemical compound normally produced by all cells and plays important roles in several chemical processes in the body. Lactic acidosis occurs when lactate and other molecules, called protons, accumulate in bodily tissues and fluids faster than the body can remove them. Consequently, tissues and fluids may become acidic and impair the normal functioning of cells. Lactic acidosis can have many different causes and is often present in severely ill patients hospitalized in intensive care units. Congenital lactic acidosis is a rare form of lactic acidosis. The word “congenital” means that the underlying condition that increases risk of developing lactic acidosis is present at birth. In most cases, the cause of congenital lactic acidosis is due to a defect in an enzyme responsible for helping the body convert carbohydrates and fats into energy. Most of these enzymes are located in specialized structures within the cell called...

 Congenital Hyperinsulinism  DISEASE OVERVIEW Congenital hyperinsulinism (HI) is the most frequent cause of severe, persistent hypoglycemia in newborn babies, infants, and children. In most countries it occurs in approximately 1/25,000 to 1/50,000 births. About 60% of babies with HI are diagnosed during the first month of life. An additional 30% will be diagnosed later in the first year and the remainder after that. With early treatment and aggressive prevention of hypoglycemia, brain damage can be prevented. However, brain damage can occur in children with HI if the condition is not recognized or if treatment is ineffective in the prevention of hypoglycemia. Insulin is the most important hormone for controlling the concentration of glucose in the blood. As food is eaten, blood glucose rises and the pancreas secretes insulin to keep blood glucose in the normal range. Insulin acts by driving glucose into the cells of the body. This action of insulin maintains blood glucose leve...

 Congenital Hepatic Fibrosis   DISEASE OVERVIEW Congenital hepatic fibrosis (CHF) is a rare disease that is present at birth (congenital) and affects the liver. CHF rarely occurs as an isolated problem, and is usually associated with ciliopathies that affect the kidneys, called hepatorenal fibrocystic diseases (FCD). These include polycystic kidney disease (PKD), nephronophthisis (NPHP) chronic tubulointerstitial disease, and others. Typical liver abnormalities include an enlarged liver (hepatomegaly), increased pressure in the venous system that carries blood from different organs to the liver (portal hypertension), and fiber-like connective tissue that spreads over and through the liver (hepatic fibrosis). Gastrointestinal (stomach and intestine) bleeding, splenomegaly (enlarged spleen) and hypersplenism (decreased platelet and other blood counts due to enlarged spleen) may be early signs of this condition. SIGNS & SYMPTOMS The more obvious symptoms are a swollen abdomen...