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Showing posts from December, 2022

Von Willebrand Disease

Overview Von Willebrand disease is a lifelong bleeding disorder in which your blood doesn't clot properly. People with the disease have low levels of von Willebrand factor, a protein that helps blood clot, or the protein doesn't perform as it should. Most people with the disease are born with it, having inherited it from one or both parents. However, warning signs, such as heavy bleeding after a dental procedure, might not show up for years. Von Willebrand disease can't be cured. But with treatment and self-care, most people with this disease can lead active lives. Symptoms Many people with von Willebrand disease don't know it because the signs are mild or absent. The most common sign of the condition is abnormal bleeding. There are three main types of the disease. The amount of bleeding varies from one person to another, depending on the type and severity of the disease. If you have von Willebrand disease, you might have: 1. Excessive bleeding from an injury or after s...

Antithrombin Deficiency

Overview Antithrombin deficiency (or antithrombin III deficiency) is a blood clotting disorder that makes you more likely to get abnormal blood clots. People with this problem are at a high risk for deep vein thrombosis (a blood clot in any deep vein of the body) and pulmonary embolism (a clot that ends up in your lungs). Antithrombin helps keep your blood from clotting excessively. When your antithrombin isn’t working right, clotting can keep going without antithrombin stopping it. When you don’t have enough antithrombin, it’s like starting to fill a bathtub with water and then walking away. Someone needs to be there to turn the water off to keep the bathtub from overflowing, just like the antithrombin needs to stop the clotting before it goes on too long. Symptoms Different people with antithrombin deficiency may have different symptoms, but your first blood clot usually happens before age 40. The most common symptoms include: 1. Deep vein thrombosis (DVT). 2. Pulmonary embolism. Alt...

Disseminated Intravascular Coagulation (DIC)

Overview A condition affecting the blood's ability to clot and stop bleeding. In disseminated intravascular coagulation, abnormal clumps of thickened blood (clots) form inside blood vessels. These abnormal clots use up the blood's clotting factors, which can lead to massive bleeding in other places. Causes include inflammation, infection and cancer. Symptoms include blood clots and bleeding, possibly from many sites in the body. The goal is to treat the underlying cause and provide supportive care through intravenous fluids and blood transfusions. Symptom  One classic symptom is uncontrolled bleeding from several areas of your body. Other symptoms are: 1. Bruising. 2. Blood clots. 3. Confusion, memory loss or change of behavior. 4. Difficulty breathing. 5. Fever. What causes disseminated intravascular coagulation (DIC)? Disseminated intravascular coagulation has been linked to certain medical treatments or conditions. Medical treatments that can cause DIC include: 1. Blood tran...

Protein S Deficiency

Overview Protein S deficiency is a disorder of blood clotting. People with this condition have an increased risk of developing abnormal blood clots. Individuals with mild protein S deficiency are at risk of a type of clot called a deep vein thrombosis (DVT) that occurs in the deep veins of the arms or legs. What are the symptoms of protein S deficiency? People with protein S deficiency may experience: 1. A blood clot in the legs or DVT (most common). 2. Blood clots during pregnancy. 3. Pulmonary embolism. 4. It may cause a stroke in a child with the severe form of the disorder. What causes protein S deficiency? A mutation or change in your PROS1 gene causes a protein S deficiency. This is an inherited problem, which means you get it from one or both parents. You will have a mild protein S deficiency if you get it from one parent or severe protein S deficiency if you get protein S gene mutations from each parent. If you have a PROS1 mutation, you have a 50% chance of passing it on to ea...

Solitary Kidney

Overview Solitary kidney is a condition in which a person has a single kidney instead of two kidneys. A person may be born with one kidney (renal agenesis), have two kidneys but only one functional (renal dysplasia) or lose one kidney to a disease, such as kidney cancer. The kidneys perform the following: 1. Filter waste from the blood 2. Help maintain water balance and blood pressure 3. Keep the proper balance of minerals in the blood Most people who have one kidney lead normal healthy lives. Some people experience complications. including reduced kidney function and high blood pressure. Symptoms Solitary kidney usually does not cause any symptoms as the single kidney is still completely function and able to meet your body’s requirements. When it does affect your health the changes are extremely gradual and small, and may go unobserved. With the passage of time however, these changes buildup and the effects can have greater consequences requiring medical treatment. Some of the changes...

Renal Tubular Acidosis

Overview What is renal tubular acidosis? Renal tubular acidosis (RTA) occurs when the kidneys do not remove acids from the blood into the urine as they should. The acid level in the blood then becomes too high, a condition called acidosis. Some acid in the blood is normal, but too much acid can disturb many bodily functions. Symptoms 1. Confusion or decreased alertness. 2. Fatigue. 3. Impaired growth in children. 4. Increased breathing rate. 5. Kidney stones. 6. Nephrocalcinosis (too much calcium deposited in the kidneys) 7. Osteomalacia (softening of the bones) 8. Muscle weakness. Treatment How do health care professionals treat RTA? For all types of RTA, drinking a solution of sodium bicarbonate link or sodium citrate will lower the acid level in your blood. This alkali therapy can prevent kidney stones from forming and make your kidneys work more normally so kidney failure does not get worse. Causes If too much potassium builds up in the blood, it's called hyperkalemic renal tub...

Renal Artery Stenosis

Overview Renal artery stenosis is the narrowing of one or more arteries that carry blood to your kidneys (renal arteries). Narrowing of the arteries prevents enough oxygen-rich blood from reaching your kidneys. Your kidneys need adequate blood flow to help filter waste products and remove excess fluids. Reduced blood flow to your kidneys may injure kidney tissue and increase blood pressure throughout your body. Symptoms Renal artery stenosis often doesn't cause any signs or symptoms until it's advanced. The condition may be discovered incidentally during testing for something else. Your health care provider may also suspect a problem if you have: 1. High blood pressure that begins suddenly or worsens without explanation 2. High blood pressure that begins before age 30 or after age 50 As renal artery stenosis progresses, other signs and symptoms may include: 1. High blood pressure that's hard to control 2. A whooshing sound as blood flows through a narrowed vessel (bruit), w...

Medullary Sponge Kidney

Overview Medullary sponge kidney, also known as Cacchi-Ricci disease, is a birth defect where changes occur in the tubules, or tiny tubes, inside a fetus' kidneys. In a normal kidney, urine flows through these tubules as the kidney is being formed during a fetus' growth. What are the symptoms of medullary sponge kidney? Many people have no signs of the disease. Only about 10% develop symptoms. These are usually associated with urinary tract infections and kidney stones and may include: 1. Blood in your urine (hematuria). 2. Flank pain on either side of your back just under your rib cage. 3. Painful urination (dysuria). 4. Kidney stones. 5. Urinary tract infections. Treatment Medullary sponge kidney only requires treatment when it causes symptoms. Doctors may recommend lifestyle changes to prevent the formation of kidney stones. These include: 1. eating a low sodium, high potassium, and low to moderate protein diet 2. drinking enough water to produce 2,000 milliliters of urine d...