sarnsrun/medquadmini huggingface dataset:
Question:
What to do for Abdominal Adhesions ?

Answer:
- Abdominal adhesions are bands of fibrous tissue that can form between abdominal tissues and organs. Abdominal adhesions cause tissues and organs in the abdominal cavity to stick together.  - Abdominal surgery is the most frequent cause of abdominal adhesions. Of patients who undergo abdominal surgery, 93 percent develop abdominal adhesions.  - In most cases, abdominal adhesions do not cause symptoms. When symptoms are present, chronic abdominal pain is the most common.  - A complete intestinal obstruction is life threatening and requires immediate medical attention and often surgery.  - Abdominal adhesions cannot be detected by tests or seen through imaging techniques such as x rays or ultrasound. However, abdominal x rays, a lower gastrointestinal (GI) series, and computerized tomography (CT) scans can diagnose intestinal obstructions.  - Surgery is the only way to treat abdominal adhesions that cause pain, intestinal obstruction, or fertility problems.
Question:
What is (are) Porphyria ?

Answer:
Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain. These disorders are usually inherited, meaning they are caused by abnormalities in genes passed from parents to children. When a person has a porphyria, cells fail to change body chemicals called porphyrins and porphyrin precursors into heme, the substance that gives blood its red color. The body makes heme mainly in the bone marrow and liver. Bone marrow is the soft, spongelike tissue inside the bones; it makes stem cells that develop into one of the three types of blood cellsred blood cells, white blood cells, and platelets.
                
The process of making heme is called the heme biosynthetic pathway. One of eight enzymes controls each step of the process. The body has a problem making heme if any one of the enzymes is at a low level, also called a deficiency. Porphyrins and porphyrin precursors of heme then build up in the body and cause illness.
Question:
What is (are) Porphyria ?

Answer:
Heme is a red pigment composed of iron linked to a chemical called protoporphyrin. Heme has important functions in the body. The largest amounts of heme are in the form of hemoglobin, found in red blood cells and bone marrow. Hemoglobin carries oxygen from the lungs to all parts of the body. In the liver, heme is a component of proteins that break down hormones, medications, and other chemicals and keep liver cells functioning normally. Heme is an important part of nearly every cell in the body.
Question:
What is (are) Porphyria ?

Answer:
Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway. Experts often classify porphyrias as acute or cutaneous based on the symptoms a person experiences:
                
- Acute porphyrias affect the nervous system. They occur rapidly and last only a short time.  - Cutaneous porphyrias affect the skin.
                
Two types of acute porphyrias, hereditary coproporphyria and variegate porphyria, can also have cutaneous symptoms.
                
Experts also classify porphyrias as erythropoietic or hepatic:
                
- In erythropoietic porphyrias, the body overproduces porphyrins, mainly in the bone marrow.  - In hepatic porphyrias, the body overproduces porphyrins and porphyrin precursors, mainly in the liver.
                
Table 1 lists each type of porphyria, the deficient enzyme responsible for the disorder, and the main location of porphyrin buildup.
                
Table 1. Types of porphyria
                
Type of Porphyria    Deficient Enzyme    Main Location of Porphyrin Buildup                  delta-aminolevulinate-dehydratase deficiency porphyria    delta-aminolevulinic acid dehydratase    liver        acute intermittent porphyria    porphobilinogen deaminase    liver        hereditary coproporphyria    coproporphyrinogen oxidase    liver        variegate porphyria    protoporphyrinogen oxidase    liver                congenital erythropoietic porphyria    uroporphyrinogen III cosynthase    bone marrow        porphyria cutanea tarda    uroporphyrinogen decarboxylase (~75% deficiency)    liver        hepatoerythropoietic porphyria    uroporphyrinogen decarboxylase (~90% deficiency)    bone marrow        erythropoietic protoporphyria*    ferrochelatase (~75% deficiency)    bone marrow
                
*Protoporphyria XLPP is a variant of erythropoietic protoporphyria.
Question:
How many people are affected by Porphyria ?

Answer:
The exact rates of porphyria are unknown and vary around the world. For example, porphyria cutanea tarda is most common in the United States, and variegate porphyria is most common in South America.1
Question:
What causes Porphyria ?

Answer:
Most porphyrias are inherited disorders. Scientists have identified genes for all eight enzymes in the heme biosynthetic pathway. Most porphyrias result from inheriting an abnormal gene, also called a gene mutation, from one parent. Some porphyrias, such as congenital erythropoietic porphyria, hepatoerythropoietic porphyria, and erythropoietic protoporphyria, occur when a person inherits two abnormal genes, one from each parent. The likeliness of a person passing the abnormal gene or genes to the next generation depends on the type of porphyria.
                
Porphyria cutanea tarda is usually an acquired disorder, meaning factors other than genes cause the enzyme deficiency. This type of porphyria can be triggered by
                
- too much iron  - use of alcohol or estrogen  - smoking  - chronic hepatitis Ca long-lasting liver disease that causes inflammation, or swelling, of the liver  - HIVthe virus that causes AIDS  - abnormal genes associated with hemochromatosisthe most common form of iron overload disease, which causes the body to absorb too much iron
                
For all types of porphyria, symptoms can be triggered by
                
- use of alcohol  - smoking  - use of certain medications or hormones  - exposure to sunlight  - stress  - dieting and fasting
Question:
What are the symptoms of Porphyria ?

Answer:
Some people with porphyria-causing gene mutations have latent porphyria, meaning they have no symptoms of the disorder. Symptoms of cutaneous porphyrias include
                
- oversensitivity to sunlight  - blisters on exposed areas of the skin  - itching and swelling on exposed areas of the skin
                
Symptoms of acute porphyrias include
                
- pain in the abdomenthe area between the chest and hips  - pain in the chest, limbs, or back  - nausea and vomiting  - constipationa condition in which an adult has fewer than three bowel movements a week or a child has fewer than two bowel movements a week, depending on the person  - urinary retentionthe inability to empty the bladder completely  - confusion  - hallucinations  - seizures and muscle weakness
                
Symptoms of acute porphyrias can develop over hours or days and last for days or weeks. These symptoms can come and go over time, while symptoms of cutaneous porphyrias tend to be more continuous. Porphyria symptoms can vary widely in severity.
Question:
How to diagnose Porphyria ?

Answer:
A health care provider diagnoses porphyria with blood, urine, and stool tests. These tests take place at a health care providers office or a commercial facility. A blood test involves drawing blood and sending the sample to a lab for analysis. For urine and stool tests, the patient collects a sample of urine or stool in a special container. A health care provider tests the samples in the office or sends them to a lab for analysis. High levels of porphyrins or porphyrin precursors in blood, urine, or stool indicate porphyria. A health care provider may also recommend DNA testing of a blood sample to look for known gene mutations that cause porphyrias.
Question:
What to do for Porphyria ?

Answer:
People with an acute porphyria should eat a diet with an average-to-high level of carbohydrates. The recommended dietary allowance for carbohydrates is 130 g per day for adults and children 1 year of age or older; pregnant and breastfeeding women need higher intakes.2 People should avoid limiting intake of carbohydrates and calories, even for short periods of time, as this type of dieting or fasting can trigger symptoms. People with an acute porphyria who want to lose weight should talk with their health care providers about diets they can follow to lose weight gradually.
                
People undergoing therapeutic phlebotomies should drink plenty of milk, water, or juice before and after each procedure.
                
A health care provider may recommend vitamin and mineral supplements for people with a cutaneous porphyria.
Question:
What to do for Porphyria ?

Answer:
- Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain.  - Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway.  - The exact rates of porphyria are unknown and vary around the world. For example, porphyria cutanea tarda is most common in the United States, and variegate porphyria is most common in South America.  - Most porphyrias result from inheriting an abnormal gene, also called a gene mutation, from one parent.  - Porphyria cutanea tarda is usually an acquired disorder, meaning factors other than genes cause the enzyme deficiency.  - Symptoms of cutaneous porphyrias include      - oversensitivity to sunlight    - blisters on exposed areas of the skin    - itching and swelling on exposed areas of the skin    - Symptoms of acute porphyrias include      - pain in the abdomen    - pain in the chest, limbs, or back    - nausea and vomiting    - constipation    - urinary retention    - confusion    - hallucinations    - seizures and muscle weakness    - A health care provider diagnoses porphyria with blood, urine, and stool tests.  - Treatment for porphyria depends on the type of porphyria the person has and the severity of the symptoms.
Question:
What is (are) Polycystic Kidney Disease ?

Answer:
Polycystic kidney disease is a genetic disorder that causes numerous cysts to grow in the kidneys. A kidney cyst is an abnormal sac filled with fluid. PKD cysts can greatly enlarge the kidneys while replacing much of their normal structure, resulting in chronic kidney disease (CKD), which causes reduced kidney function over time. CKD may lead to kidney failure, described as end-stage kidney disease or ESRD when treated with a kidney transplant or blood-filtering treatments called dialysis. The two main types of PKD are autosomal dominant PKD and autosomal recessive PKD.
                
PKD cysts are different from the usually harmless simple cysts that often form in the kidneys later in life. PKD cysts are more numerous and cause complications, such as high blood pressure, cysts in the liver, and problems with blood vessels in the brain and heart.
Question:
What causes Polycystic Kidney Disease ?

Answer:
A gene mutation, or defect, causes polycystic kidney disease. Genes provide instructions for making proteins in the body. A gene mutation is a permanent change in the deoxyribonucleic acid (DNA) sequence that makes up a gene. In most cases of PKD, a person inherits the gene mutation, meaning a parent passes it on in his or her genes. In the remaining cases, the gene mutation develops spontaneously. In spontaneous cases, neither parent carries a copy of the mutated gene.
                
Researchers have found three different gene mutations associated with PKD. Two of the genes are associated with autosomal dominant PKD. The third gene is associated with autosomal recessive PKD. Gene mutations that cause PKD affect proteins that play a role in kidney development.
                

                
Genetic Disorders   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, which sometimes creates a genetic disorder. Not all gene mutations cause a disorder.   People inherit two copies of most genes; one copy from each parent. A genetic disorder occurs when one or both parents pass a mutated gene to a child at conception. A genetic disorder 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, a person can pass it to his or her children.   Read more about genes and genetic conditions in the U.S. National Library of Medicines (NLMs) Genetics Home Reference.
Question:
How many people are affected by Polycystic Kidney Disease ?

Answer:
Estimates of PKDs prevalence range from one in 400 to one in 1,000 people.1 According to the United States Renal Data System, PKD accounts for 2.2 percent of new cases of kidney failure each year in the United States. Annually, eight people per 1 million have kidney failure as a result of PKD.2
                
Polycystic kidney disease exists around the world and in all races. The disorder occurs equally in women and men, although men are more likely to develop kidney failure from PKD. Women with PKD and high blood pressure who have had more than three pregnancies also have an increased chance of developing kidney failure.
Question:
What is (are) Polycystic Kidney Disease ?

Answer:
Autosomal dominant PKD is the most common form of PKD and the most common inherited disorder of the kidneys.3 The term autosomal dominant means a child can get the disorder by inheriting the gene mutation from only one parent. Each child of a parent with an autosomal dominant mutation has a 50 percent chance of inheriting the mutated gene. About 10 percent of autosomal dominant PKD cases occur spontaneously.4
                
The following chart shows the chance of inheriting an autosomal dominant gene mutation:
                

                

                
Health care providers identify most cases of autosomal dominant PKD between the ages of 30 and 50.4 For this reason, health care providers often call autosomal dominant PKD adult PKD. However, the onset of kidney damage and how quickly the disorder progresses varies. In some cases, cysts may form earlier in life and grow quickly, causing symptoms in childhood.
                

                

                
The cysts grow out of nephrons, the tiny filtering units inside the kidneys. The cysts eventually separate from the nephrons and continue to enlarge. The kidneys enlarge along with the cystswhich can number in the thousandswhile roughly retaining their kidney shape. In fully developed autosomal dominant PKD, a cyst-filled kidney can weigh as much as 20 to 30 pounds.
Question:
What are the symptoms of Polycystic Kidney Disease ?

Answer:
In many cases, PKD does not cause signs or symptoms until cysts are half an inch or larger. When present, the most common symptoms are pain in the back and sidesbetween the ribs and hipsand headaches. The pain can be temporary or persistent, mild or severe. Hematuriablood in the urinemay also be a sign of autosomal dominant PKD.
Question:
What are the complications of Polycystic Kidney Disease ?

Answer:
The complications of autosomal dominant PKD include the following:
                
- Pain. Cyst infection, other types of urinary tract infections (UTIs), bleeding into cysts, kidney stones, or stretching of the fibrous tissue around the kidney because of cyst growth can cause pain in the area of the kidneys.  - High blood pressure. High blood pressure is present in about half of the people with autosomal dominant PKD and normal kidney function between the ages of 20 and 35.4 Almost 100 percent of people with kidney failure and autosomal dominant PKD have high blood pressure.1 High blood pressuregreater than 140/90 mm Hgincreases the likelihood of heart disease and stroke, as well as adding to the damage already done to the kidneys by the cysts.  - Kidney failure. Kidney failure means the kidneys no longer work well enough to maintain health. A person with kidney failure may have the following symptoms:      - little or no urination    - edemaswelling, usually in the legs, feet, or ankles and less often in the hands or face    - drowsiness    - fatigue, or feeling tired    - generalized itching or numbness    - dry skin    - headaches    - weight loss    - appetite loss    - nausea    - vomiting    - sleep problems    - trouble concentrating    - darkened skin    - muscle cramps    - shortness of breath    - chest pain
                
Untreated kidney failure can lead to coma and death. More than half of people with autosomal dominant PKD progress to kidney failure by age 70.1
                
- UTIs. Kidney cysts block the flow of urine through the kidneys. Stagnant urine can set the stage for infection. Bacteria enter the urinary tract through the urethra and spread up to the kidneys. Sometimes, the kidney cysts become infected. UTIs may cause scarring in the kidneys.  - Kidney stones. About 20 percent of people with autosomal dominant PKD have kidney stones.1 Kidney stones can block the flow of urine and cause pain.  - Liver cysts. Liver cysts are the most common nonkidney complication of autosomal dominant PKD.1 Liver cysts generally cause no symptoms.  - Pancreatic cysts. PKD can also cause cysts in the pancreas. Pancreatic cysts rarely cause pancreatitisinflammation, or swelling, of the pancreas.  - Abnormal heart valves. Abnormal heart valves may occur in up to 25 percent of people with autosomal dominant PKD.1 Insufficient blood flow in the aortathe large artery that carries blood from the heartmay result from the abnormal heart valves.  - Diverticula. Diverticula are small pouches, or sacs, that push outward through weak spots in the colon wall. This complication is more common in people with PKD who have kidney failure.1  - Brain aneurysms. An aneurysm is a bulge in the wall of a blood vessel. Aneurysms in the brain might cause headaches that are severe or feel different from other headaches. Brain aneurysms can rupture, or break open, causing bleeding inside the skull. A ruptured aneurysm in the brain is a life-threatening condition and requires immediate medical attention.
Question:
What is (are) Polycystic Kidney Disease ?

Answer:
Autosomal recessive PKD is a rare genetic disorder that affects the liver as well as the kidneys. The signs of autosomal recessive PKD frequently appear in the earliest months of life, even in the womb, so health care providers often call it infantile PKD. In an autosomal recessive disorder, the child has to inherit the gene mutation from both parents to have an increased likelihood for the disorder. 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 disorder, although the child may inherit the gene mutation. The child is a carrier of the disorder and can pass the gene mutation to the next generation. Genetic testing can show whether a parent or child is a carrier of the mutated gene. Autosomal recessive disorders do not typically appear 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:
                

                

                
Read more about how people inherit genetic conditions at the NLMs Genetics Home Reference.
Question:
What are the symptoms of Polycystic Kidney Disease ?

Answer:
An early sign of autosomal recessive PKD is an enlarged kidney, seen in a fetus or an infant using ultrasound. Kidney function is crucial for early physical development, so children with autosomal recessive PKD and decreased kidney function are usually smaller-than-average size, a condition called growth failure.
                
Some people with autosomal recessive PKD do not develop signs or symptoms until later in childhood or even adulthood.
Question:
What are the complications of Polycystic Kidney Disease ?

Answer:
Babies with the most severe cases of autosomal recessive PKD often die hours or days after birth because they cannot breathe well enough to sustain life. Their lungs do not develop as they should during the prenatal period. Pressure from enlarged kidneys also contributes to breathing problems.
                
Children born with autosomal recessive PKD often develop kidney failure before reaching adulthood.
                
Liver scarring occurs in all people with autosomal recessive PKD and is usually present at birth. However, liver problems tend to become more of a concern as people with autosomal recessive PKD grow older. Liver scarring can lead to progressive liver dysfunction and other problems.
                
Additional complications of autosomal recessive PKD include high blood pressure and UTIs.
Question:
How to prevent Polycystic Kidney Disease ?

Answer:
Scientists have not yet found a way to prevent PKD. However, people with PKD may slow the progression of kidney damage caused by high blood pressure through lifestyle changes, diet, and blood pressure medications. People with PKD should be physically active 30 minutes a day most days of the week. See Eating, Diet, and Nutrition for diet advice on lowering blood pressure and slowing the progression of kidney disease in general. If lifestyle and diet changes do not control a persons blood pressure, a health care provider may prescribe one or more blood pressure medications, including ACE inhibitors or ARBs.