Druvith/medqa huggingface dataset:
What causes Wilson Disease ? 

Wilson disease is caused by an inherited autosomal recessive mutation, or change, in the ATP7B gene. In an autosomal recessive disease, the child has to inherit the gene mutation from both parents to have an increased likelihood for the disease. The chance of a child inheriting autosomal recessive mutations from both parents with a gene mutation is 25 percent, or one in four. If only one parent carries the mutated gene, the child will not get the disease, although the child may inherit one copy of the gene mutation. The child is called a carrier of the disease and can pass the gene mutation to the next generation. Genetic testing is a procedure that identifies changes in a patients genes and can show whether a parent or child is a carrier of a mutated gene. Autosomal recessive diseases are typically not seen in every generation of an affected family.
                
The following chart shows the chance of inheriting an autosomal recessive mutation from parents who both carry the mutated gene.
                

                
Genetic Diseases   Each cell contains thousands of genes that provide the instructions for making proteins for growth and repair of the body. If a gene has a mutation, the protein made by that gene may not function properly. Not all gene mutations cause a disease.   People have two copies of most genes; they inherit one copy from each parent. A genetic disease occurs when one or both parents pass a mutated gene to a child at conception. A genetic disease can also occur through a spontaneous gene mutation, meaning neither parent carries a copy of the mutated gene. Once a spontaneous gene mutation has occurred in a person, that person can pass the gene mutation on to a child.   Read more about genes and genetic conditions in the U.S. National Library of Medicines Genetics Home Reference at www.ghr.nlm.nih.gov.
What are the complications of Wilson Disease ? 

People who have Wilson disease that is not treated or diagnosed early can have serious complications, such as
                
- cirrhosisscarring of the liver  - kidney damageas liver function decreases, the kidneys may be damaged  - persistent nervous system problems when nervous system symptoms do not resolve  - liver cancerhepatocellular carcinoma is a type of liver cancer that can occur in people with cirrhosis  - liver failurea condition in which the liver stops working properly  - death, if left untreated
What to do for Wilson Disease ? 

People with Wilson disease should reduce their dietary copper intake by avoiding foods that are high in copper, such as
                
- shellfish  - liver  - mushrooms  - nuts  - chocolate
                
People should not eat these foods during the initial treatment and talk with the health care provider to discuss if they are safe to eat in moderation during maintenance treatment.
                
People with Wilson disease whose tap water runs through copper pipes or comes from a well should check the copper levels in the tap water. Water that sits in copper pipes may pick up copper residue, but running water lowers the level to within acceptable limits. People with Wilson disease should not use copper containers or cookware to store or prepare food or drinks.
                
To help ensure coordinated and safe care, people should discuss their use of complementary and alternative medical practices, including their use of vitamins and dietary supplements, with their health care provider. Read more at www.nccam. nih.gov/health. If the health care provider recommends taking any type of supplement or vitamin, a pharmacist can recommend types that do not contain copper.
                
People should talk with a health care provider about diet changes to reduce copper intake.
                
Liver Transplant
                
A liver transplant may be necessary in people when
                
- cirrhosis leads to liver failure  - acute liver failure happens suddenly  - treatment is not effective
                
A liver transplant is an operation to remove a diseased or an injured liver and replace it with a healthy one from another person, called a donor. A successful transplant is a life-saving treatment for people with liver failure.
                
Most liver transplants are successful. About 85 percent of transplanted livers are functioning after 1 year.2 Liver transplant surgery provides a cure for Wilson disease in most cases. More information is provided in the NIDDK health topic, Liver Transplantation.
How to prevent Wilson Disease ? 

A person cannot prevent Wilson disease; however, people with a family history of Wilson disease, especially those with an affected sibling or parent, should talk with a health care provider about testing. A health care provider may be able to diagnose Wilson disease before symptoms appear. Early diagnosis and treatment of Wilson disease can reduce or even prevent organ damage.
                
People with a family history of the disease may also benefit from genetic testing that can identify one or more gene mutations. A health care provider may refer a person with a family history of Wilson disease to a geneticista doctor who specializes in genetic diseases.
What to do for Wilson Disease ? 

- Wilson disease is a genetic disease that prevents the body from removing extra copper.  - Normally, the liver filters extra copper and releases it into bile. In Wilson disease, the liver does not filter copper correctly and copper builds up in the liver, brain, eyes, and other organs.  - Wilson disease is caused by an inherited autosomal recessive mutation, or change, in the ATP7B gene. In an autosomal recessive disease, the child has to inherit the gene mutation from both parents to have an increased likelihood for the disease.  - The signs and symptoms of Wilson disease vary, depending on what organs of the body are affected. People with Wilson disease may have      - liver-related signs and symptoms    - central nervous system-related signs and symptoms    - mental health-related signs and symptoms    - other signs and symptoms    - A health care provider will treat Wilson disease with a lifelong effort to reduce and control the amount of copper in the body. Treatment may include      - medications    - changes in eating, diet, and nutrition    - a liver transplant    - People with Wilson disease should reduce their dietary copper intake by avoiding foods that are high in copper, such as      - shellfish    - liver    - mushrooms    - nuts    - chocolate    - A person cannot prevent Wilson disease; however, people with a family history of Wilson disease, especially those with an affected sibling or parent, should talk with a health care provider about testing.
What is (are) Anemia of Inflammation and Chronic Disease ? 

Anemia is a condition in which a person has a lower than normal number of red blood cells or the amount of hemoglobin in the red blood cells drops below normal, which prevents the bodys cells from getting enough oxygen. Hemoglobin is an iron-rich protein that gives blood its red color and lets red blood cells transport oxygen from the lungs to the bodys tissues. Therefore, low numbers of red blood cells or low levels of hemoglobin also cause low blood iron levels.
                
People with anemia may feel tired because their blood does not supply enough oxygen to the bodys organs and tissues. If anemia becomes severe and prolonged, the lack of oxygen in the blood can lead to shortness of breath or exercise intolerancea condition in which a person becomes easily fatigued during or after physical activityand eventually can cause the heart and other organs to fail.
What is (are) Anemia of Inflammation and Chronic Disease ? 

Anemia of inflammation and chronic disease is a type of anemia that commonly occurs with chronic, or long term, illnesses or infections. Cancer and inflammatory disorders, in which abnormal activation of the immune system occurs, can also cause AI/ACD.
                
AI/ACD is easily confused with iron-deficiency anemia because in both forms of anemia levels of iron circulating in the blood are low. Iron in the body is found both circulating in the blood and stored in body tissues. Circulating iron is necessary for red blood cell production. Low blood iron levels occur in iron-deficiency anemia because levels of the iron stored in the bodys tissues are depleted. In AI/ACD, however, iron stores are normal or high. Low blood iron levels occur in AI/ACD, despite normal iron stores, because inflammatory and chronic diseases interfere with the bodys ability to use stored iron and absorb iron from the diet. AI/ACD is the second most common form of anemia, after iron-deficiency anemia.1
Who is at risk for Anemia of Inflammation and Chronic Disease? ? 

While AI/ACD can affect people at any age, older adults are especially at risk because they have the highest rates of chronic disease. AI/ACD is also common among hospitalized patients, particularly those with chronic illnesses.
                
More than 130 million Americans live with at least one chronic illness.2 Addressing the causes of anemia in people with chronic disease can help improve their health and quality of life.
What are the symptoms of Anemia of Inflammation and Chronic Disease ? 

Anemia of inflammation and chronic disease typically develops slowly and, because it is usually mild, may cause few or no symptoms. Symptoms of anemia may also be masked by the symptoms of the underlying disease. Sometimes, AI/ACD can cause or contribute to
                
- fatigue  - weakness  - pale skin  - a fast heartbeat  - shortness of breath  - exercise intolerance
How to diagnose Anemia of Inflammation and Chronic Disease ? 

To diagnose AI/ACD, a health care provider orders a blood test called a complete blood count (CBC). A blood test involves drawing a persons blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. The CBC includes a measurement of a persons hematocrit, the percentage of the blood that consists of red blood cells. The CBC also measures the amount of hemoglobin in the blood and can show whether a person has a lower than normal number of red blood cells.
                
In addition to measuring hematocrit and hemoglobin, the CBC includes two other measurements to show whether a person has enough iron:
                
- The ferritin level indicates the amount of iron stored in the body. A ferritin score below 200 nanograms per liter is a sign that a person may have an iron deficiency.  - The transferrin saturation (TSAT) is a score that indicates how much iron is available, or circulating, to make red blood cells. A TSAT score below 20 percent is another sign of iron deficiency.3
                
A CBC result that shows low iron levels in the blood yet normal measures of iron stores in the body is a hallmark of AI/ACD.
What are the treatments for Anemia of Inflammation and Chronic Disease ? 

Anemia of inflammation and chronic disease often is not treated separately from the condition with which it occurs. In general, health care providers focus on treating the underlying illness. If this treatment is successful, the anemia usually resolves. For example, antibiotics prescribed for infection and anti-inflammatory medications prescribed for rheumatoid arthritis or IBD can cause AI/ACD to disappear. However, AI/ACD is increasingly being viewed as a medical condition that merits direct treatment.
                
For people with cancer or kidney disease who have low levels of EPO, a synthetic form of EPO may be prescribed. A health care provider usually injects EPO subcutaneouslyunder the skintwo or three times a week. A person may be taught how to inject the EPO at home. People on hemodialysis who cannot tolerate EPO shots may receive EPO intravenously during hemodialysis.
                
If iron deficiency has a role in causing AI/ACD, a person may need iron supplements to raise hematocrit to a target level. Iron supplements can be taken by pill, subcutaneously, or intravenously during hemodialysis.
                
People with kidney disease and AI/ACD may also be advised to take vitamin B12 and folic acid supplements. A person should talk with a health care provider before taking any supplements.
                
More information is provided in the NIDDK health topic, Anemia in Kidney Disease and Dialysis.
What to do for Anemia of Inflammation and Chronic Disease ? 

People with anemia caused by iron, vitamin B12, or folic acid deficiencies are usually advised to include sources of these nutrients in their diets.
                
Dietary sources of iron include
                
- beans  - breakfast cereals  - chicken  - enriched bread  - spinach  - turkey
                
Dietary sources of vitamin B12 include
                
- beef liver  - breakfast cereals  - chicken  - clams  - fish  - turkey
                
Dietary sources of folic acid include
                
- beans  - breakfast cereals  - chicken  - enriched bread  - rice  - turkey
What to do for Anemia of Inflammation and Chronic Disease ? 

- Anemia is a condition in which a person has a lower than normal number of red blood cells or the amount of hemoglobin in the red blood cells drops below normal, which prevents the bodys cells from getting enough oxygen.  - Anemia of inflammation and chronic disease (AI/ACD) is a type of anemia that commonly occurs with chronic illnesses, infections, cancer, or inflammatory disorders.  - AI/ACD typically develops slowly and, because it is usually mild, may cause few or no symptoms. Sometimes, AI/ACD can cause or contribute to fatigue, weakness, pale skin, a fast heartbeat, shortness of breath, and exercise intolerance.  - To diagnose AI/ACD, a health care provider orders a blood test called a complete blood count (CBC).  - AI/ACD often is not treated separately from the condition with which it occurs. In general, health care providers focus on treating the underlying illness.
What is (are) Urine Blockage in Newborns ? 

The urinary tract is the bodys drainage system for removing wastes and extra fluid. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. Children produce less urine than adults. The amount produced depends on their age. The urine flows from the kidneys to the bladder through tubes called ureters. The bladder stores urine until releasing it through urination. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder.
                
The kidneys and urinary system keep fluids and natural chemicals in the body balanced. While a baby is developing in the mothers womb, called prenatal development, the placentaa temporary organ joining mother and babycontrols much of that balance. The babys kidneys begin to produce urine at about 10 to 12 weeks after conception. However, the mothers placenta continues to do most of the work until the last few weeks of the pregnancy. Wastes and extra water are removed from the babys body through the umbilical cord. The babys urine is released into the amniotic sac and becomes part of the amniotic fluid. This fluid plays a role in the babys lung development.
What causes Urine Blockage in Newborns ? 

Many types of defects in the urinary tract can cause urine blockage:
                
- Vesicoureteral reflux (VUR). Most children with VUR are born with a ureter that did not grow long enough during development in the womb. The valve formed by the ureter pressing against the bladder wall does not close properly, so urine backs uprefluxesfrom the bladder to the ureter and eventually to the kidney. Severe reflux may prevent a kidney from developing normally and may increase the risk for damage from infections after birth. VUR usually affects only one ureter and kidney, though it can affect both ureters and kidneys.  - Ureteropelvic junction (UPJ) obstruction. If urine is blocked where the ureter joins the kidney, only the kidney swells. The ureter remains a normal size. UPJ obstruction usually occurs in only one kidney.
                
- Bladder outlet obstruction (BOO). BOO describes any blockage in the urethra or at the opening of the bladder.Posterior urethral valves (PUV), the most common form of BOO seen in newborns and during prenatal ultrasound exams, is a birth defect in boys in which an abnormal fold of tissue in the urethra keeps urine from flowing freely out of the bladder. This defect may cause swelling in the entire urinary tract, including the urethra, bladder, ureters, and kidneys.  - Ureterocele. If the end of the ureter does not develop normally, it can bulge, creating a ureterocele. The ureterocele may obstruct part of the ureter or the bladder.
                
Some babies are born with genetic conditions that affect several different systems in the body, including the urinary tract:
                
- Prune belly syndrome (PBS). PBS is a group of birth defects involving poor development of the abdominal muscles, enlargement of the ureters and bladder, and both testicles remaining inside the body instead of descending into the scrotum. The skin over the abdomen is wrinkled, giving the appearance of a prune. PBS usually occurs in boys, and most children with PBS have hydronephrosisswelling in the kidneyand VUR.  - Esophageal atresia (EA). EA is a birth defect in which the esophagusthe muscular tube that carries food and liquids from the mouth to the stomachlacks the opening for food to pass into the stomach. Babies born with EA may also have problems with their spinal columns, digestive systems, hearts, and urinary tracts.  - Congenital heart defects. Heart defects range from mild to life threatening. Children born with heart defects also have a higher rate of problems in the urinary tract than children in the general population, suggesting that some types of heart and urinary defects may have a common genetic cause.
                
Urine blockage can also be caused by spina bifida and other birth defects that affect the spinal cord. These defects may interrupt nerve signals between the bladder, spinal cord, and brain, which are needed for urination, and lead to urinary retentionthe inability to empty the bladder completelyin newborns. Urine that remains in the bladder can reflux into the ureters and kidneys, causing swelling.
What are the symptoms of Urine Blockage in Newborns ? 

Before leaving the hospital, a baby with urine blockage may urinate only small amounts or may not urinate at all. As part of the routine newborn exam, the health care provider may feel an enlarged kidney or find a closed urethra, which may indicate urine blockage. Sometimes urine blockage is not apparent until a child develops symptoms of a urinary tract infection (UTI), including
                
- fever  - irritability  - not eating  - nausea  - diarrhea  - vomiting  - cloudy, dark, bloody, or foul-smelling urine  - urinating often
                
If these symptoms persist, the child should see a health care provider. A child 2 months of age or younger with a fever should see a health care provider immediately. The health care provider will ask for a urine sample to test for bacteria.
What are the complications of Urine Blockage in Newborns ? 

When a defect in the urinary tract blocks the flow of urine, the urine backs up and causes the ureters to swell, called hydroureter, and hydronephrosis.
                
Hydronephrosis is the most common problem found during prenatal ultrasound of a baby in the womb. The swelling may be easy to see or barely detectable. The results of hydronephrosis may be mild or severe, yet the long-term outcome for the childs health cannot always be predicted by the severity of swelling. Urine blockage may damage the developing kidneys and reduce their ability to filter. In the most severe cases of urine blockage, where little or no urine leaves the babys bladder, the amount of amniotic fluid is reduced to the point that the babys lung development is threatened.
                
After birth, urine blockage may raise a childs risk of developing a UTI. Recurring UTIs can lead to more permanent kidney damage.
What are the treatments for Urine Blockage in Newborns ? 

Treatment for urine blockage depends on the cause and severity of the blockage. Hydronephrosis discovered before the baby is born rarely requires immediate action, especially if it is only on one side. The condition often goes away without any treatment before or after birth. The health care provider should keep track of the condition with frequent ultrasounds.
                
Surgery
                
If the urine blockage threatens the life of the unborn baby, a fetal surgeon may recommend surgery to insert a shunt or correct the problem causing the blockage. A shunt is a small tube that can be inserted into the babys bladder to release urine into the amniotic sac. The procedure is similar to amniocentesis, in that a needle is inserted through the mothers abdomen. Ultrasound guides placement of the shunt, which is attached to the end of the needle. Alternatively, an endoscopea small, flexible tube with a lightcan be used to place a shunt or to repair the problem causing the blockage. Fetal surgery carries many risks, so it is performed only in special circumstances, such as when the amniotic fluid is absent and the babys lungs are not developing or when the kidneys are severely damaged.
                
If the urinary defect does not correct itself after the child is born, and the child continues to have urine blockage, surgery may be needed to remove the obstruction and restore urine flow. The decision to operate depends on the degree of blockage. After surgery, a small tube, called a stent, may be placed in the ureter or urethra to keep it open temporarily while healing occurs.
                
Antibiotics
                
Antibiotics are bacteria-fighting medications. A child with possible urine blockage or VUR may be given antibiotics to prevent UTIs from developing until the urinary defect corrects itself or is corrected with surgery.
                
Intermittent Catheterization
                
Intermittent catheterization may be used for a child with urinary retention due to a nerve disease. The parent or guardian, and later the child, is taught to drain the bladder by inserting a thin tube, called a catheter, through the urethra to the bladder. Emptying the bladder in this way helps to decrease kidney damage, urine leakage, and UTIs.
What to do for Urine Blockage in Newborns ? 

Researchers have not found that a mothers eating, diet, and nutrition play a role in causing or preventing urine blockage in newborns.