Advanced searches left 3/3

Liver Disease - MedlinePlus Genetics

Summarized by Plex Scholar
Last Updated: 20 April 2022

* If you want to update the article please login/register

Non-alcoholic fatty liver disease

Non-alcoholic fatty liver disease is a buildup of excess fat in the liver that can cause liver damage similar to alcohol use, but it occurs in people who do not drink heavily. The liver naturally contains some fat; an individual is considered to have a fatty liver if the liver contains more than 5 to 10% fat. The fat deposits in the liver associated with NAFLD generally cause no symptoms, but they may result in elevated liver enzyme levels that are not present in routine blood tests. People with NAFLD account for inflammation of the liver, which causes liver damage. Between 7 and 30 percent of people with NAFLD experience inflammation of the liver, resulting in liver damage. However, serious or long-term injury can lead to the replacement of normal liver tissue with scar tissue, resulting in irreversible liver disease that causes the liver to stop functioning properly. Scarring in the vein that draws blood into the liver from the other digestive organs may cause elevated blood pressure in the blood vessel, resulting in enlarged blood vessels within the digestive system. Many cases of cirrhosis with no apparent root cause are reported by NAFLD and NASH; at least one-third of those with NASH experience cirrhosis. However, a person with NAFLD may not have any or any of the other conditions that contribute to the metabolic syndrome, and people with any or all of these disorders may not have NAFLD.

Source link: https://medlineplus.gov/genetics/condition/non-alcoholic-fatty-liver-disease


Hypermanganesemia with dystonia

Hypermanganesemia with dystonia is an inherited disorder in which high amounts of the mineral manganese accumulate in the body. In particular, manganese builds up in a region of the brain that controls movement coordination, which leads to physical difficulties that make controlling movement difficult. Two forms of hypermanganesemia with dystonia, polycythemia, and hypermanganesemia with dystonia, polycythemia, and cirrhosis and hypermanganesemia with dystonia have been described. Manganese accumulates in the blood, brain, and liver in HMDPC. Most children with HMDPC's early-onset disease suffer dystonia in the arms and legs, which can often lead to a "cock-walk gait" on a high-stepping walk. Involuntary trembling, unusually slow walking, and slurred speech are all typical signs in children affected by autism's neurological disorders. Individuals with HMDPC have an elevated number of red blood cells and lower amounts of iron stored in the body. An expanded liver as a result of manganese accumulation in the organ, scarring in the liver, and irreversible liver disease are all typical of HMDPC. Manganese accumulates in the blood and brain in hypermanganesemia with dystonia 2. Signs and symptoms of this disorder typically begin between ages 6 months to three years. People with hypermanganesemia with dystonia 2 may have other medical disorders related to HMDPC, such as tremor, bradykinesia, parkinsonism, and dysarthria. Unlike in HMDPC, people with hypermanganesemia with dystonia 2 do not experience polycythemia or liver disease.

Source link: https://medlineplus.gov/genetics/condition/hypermanganesemia-with-dystonia


Progressive familial intrahepatic cholestasis

Progressive familial intrahepatic cholestasis is a disease that causes progressive liver disease and liver disease, which leads to liver disease. Liver cells in people with PFIC are less able to secrete bile, a digestive fluid that is not readily revealed. In affected individuals, liver disease is caused by bile buildup in liver cells. People with PFIC1 may have short stature, deafness, diarrhea, pancreatitis, and low blood samples of fat-soluble vitamins, in addition to liver disease signs and symptoms. PFIC2's signs and symptoms are generally related to liver disease; however, these signs and symptoms are more severe than those experienced by people with PFIC1. People with PFIC2 often experience liver disease within the first few years of life. Only those people with PFIC3 have signs and symptoms relating to liver disease. People with PFIC3 can die in childhood or adulthood, with a PFIC3.

Source link: https://medlineplus.gov/genetics/condition/progressive-familial-intrahepatic-cholestasis


Alpha-1 antitrypsin deficiency

People with alpha-1 antitrypsin deficiency are expected to experience the first signs and symptoms of lung disease in people aged 25 to 50. People affected by damage to the small air sacs in the lungs may experience emphysema, a respiratory disease linked to exposure to emphysema. The emergence of emphysema symptoms and lung damage can be accelerated by smoking or exposure to tobacco smoke. About 10% of infants with alpha-1 antitrypsin deficiency have liver disease, which can cause skin and whites of the eyes to yellow. Approximately 11% of adults with alpha-1 antitrypsin deficiency have liver disease as a result of scar tissue in the liver. Individuals with alpha-1 antitrypsin deficiency are also at risk of developing hepatocellular carcinoma, a form of liver cancer. People with alpha-1 antitrypsin deficiency in rare cases develop panniculitis, a skin disease that is characterized by hardened skin with painful lumps or patches.

Source link: https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency


Deoxyguanosine kinase deficiency

Deoxygenase deficiency is a hereditary disorder that can cause liver disease and neurological abnormalities. A bacterium kinase deficiency in newborns can have a buildup of lactic acid in the body within the first few days after birth. As a result of liver disease, pregnant babies can have low blood sugar. They begin to show new signs of liver disease during the first few weeks of life, which may lead to liver transplantation. Children with this illness do not typically live past the age of 2 years, according to statistics. Some people with deoxyanosine kinase deficiency have a milder form of the disorder without severe neurological abnormalities. People with kidney disease may also have kidney problems. Mild hypotonia is the only medical manifestation associated with this disorder.

Source link: https://medlineplus.gov/genetics/condition/deoxyguanosine-kinase-deficiency


MPV17-related hepatocerebral mitochondrial DNA depletion syndrome

Infants in the first weeks of life experience liver disease that quickly progresses to liver failure. Individuals with MPV17-related hepatocerebral mitochondrial DNA depletion syndrome typically live only until infancy or early childhood. The most common hepatocerebral DNA depletion syndrome is seen in the Navajo population of the southwestern United States. People with Navajo neurohepatopathy tend to live longer life expectancy than those with MPV17-related hepatocerebral DNA depletion syndrome. People with Navajo neurohepatitis may have trouble with detecting pain that may lead to painless bone fractures and self-mutilation of the fingers or toes, as well as finger or toes. Individuals with Navajo neurohepatitopathy may have a hard front covering of the eye, which may lead to open sores and scarring on the cornea, resulting in impaired vision.

Source link: https://medlineplus.gov/genetics/condition/mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome


Cryptogenic cirrhosis

Cryptogenic cirrhosis is a disease that causes liver dysfunction. People with this disorder have irreversible liver disease attributed to scarring of the liver, often in mid- to late adulthood. However, severe or long-term injury could result in the replacement of normal liver tissue with scar tissue. People with cryptogenic cirrhosis have no signs in the early stages of cryptogenic cirrhosis, because the liver has sufficient normal tissue to function. People with cryptogenic cirrhosis may have elevated blood pressure in the vein that supplies blood to the liver. Cancer of the liver is a common occurrence in people with cryptogenic cirrhosis.

Source link: https://medlineplus.gov/genetics/condition/cryptogenic-cirrhosis


Polycystic kidney disease

Polycystic kidney disease is a disease that affects the kidneys and other organs. Common signs of polycystic kidney disease include dangerously elevated blood pressure, pain in the back or sides, blood in the urine, recurrent urinary tract infections, kidney stones, and heart valve abnormalities. In addition, people with polycystic kidney disease are at an elevated risk of an abnormal bulging in a large blood vessel called the aorta or in blood vessels at the brain's base. The two main forms of polycystic kidney disease are distinguishable by their age of onset and the pattern in which it is passed through families. Depending on the genetic cause, autosomal dominant polycystic kidney disease can be further divided into type 1 and type 2 diabetes. Polycystic kidney disease, which is an autosomal recessive disease, is much less common and is often fatal early in life.

Source link: https://medlineplus.gov/genetics/condition/polycystic-kidney-disease

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions