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Hereditary Hyperbilirubinemia
Hereditary hyperbilirubinemia refers to a group of conditions where levels of bilirubin, a byproduct of red blood cell metabolism, are elevated in the blood due to a genetic cause. Various mutations of enzymes in the liver cells, which breakdown bilirubin, cause varying elevated levels of bilirubin in the blood. These disorders may cause yellowing of the skin and eyes, called jaundice. The prevalence of hereditary hyperbilirubinemia varies based on each disease. The most common being Gilbert syndrome which is found is 2-10% of the population. Other types of hereditary hyperbilirubinemia are less common and may even be exceedingly rare depending on the mutation. These conditions are conventionally split into conjugated or unconjugated hyperbilirubinemias based on where the enzyme mutation occurs in bilirubin metabolism. Unconjugated bilirubin is byproduct of red blood cell breakdown from the spleen which is not water soluble and is transported via albumin to the liver. Once in the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Bilirubin
Bilirubin (BR) (adopted from German, originally bili—bile—plus ruber—red—from Latin) is a red-orange compound that occurs in the normcomponent of the straw-yellow color in urine. Another breakdown product, stercobilin, causes the brown color of feces. Although bilirubin is usually found in animals rather than plants, at least one plant species, '' Strelitzia nicolai'', is known to contain the pigment. Structure Bilirubin consists of an open-chain tetrapyrrole. It is formed by oxidative cleavage of a porphyrin in heme, which affords biliverdin. Biliverdin is reduced to bilirubin. After conjugation with glucuronic acid, bilirubin is water-soluble and can be excreted. Bilirubin is structurally similar to the pigment phycobilin used by certain algae to capture light energy, and to the pigment phytochrome used by plants to sense light. All of these contain an open chain of four pyrrolic rings. Like these other pigments, some of the double-bonds in bilirubin isomer ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Jaundice
Jaundice, also known as icterus, is a yellowish or, less frequently, greenish pigmentation of the skin and sclera due to high bilirubin levels. Jaundice in adults is typically a sign indicating the presence of underlying diseases involving abnormal heme metabolism, liver dysfunction, or biliary-tract obstruction. The prevalence of jaundice in adults is rare, while jaundice in babies is common, with an estimated 80% affected during their first week of life. The most commonly associated symptoms of jaundice are itchiness, pale feces, and dark urine. Normal levels of bilirubin in blood are below 1.0 mg/ dl (17 μmol/ L), while levels over 2–3 mg/dl (34–51 μmol/L) typically result in jaundice. High blood bilirubin is divided into two types: unconjugated and conjugated bilirubin. Causes of jaundice vary from relatively benign to potentially fatal. High unconjugated bilirubin may be due to excess red blood cell breakdown, large bruises, gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Gilbert's Syndrome
Gilbert syndrome (GS) is a syndrome in which the liver of affected individuals processes bilirubin more slowly than the majority resulting in higher levels in the blood. Many people never have symptoms. Occasionally jaundice (a yellowing of the skin or whites of the eyes) may occur. Gilbert syndrome is due to a genetic variant in the ''UGT1A1'' gene which results in decreased activity of the bilirubin uridine diphosphate glucuronosyltransferase enzyme. It is typically inherited in an autosomal recessive pattern and occasionally in an autosomal dominant pattern depending on the type of variant. Episodes of jaundice may be triggered by stress such as exercise, menstruation, or not eating. Diagnosis is based on elevated levels of unconjugated bilirubin in the blood without signs of liver problems or red blood cell breakdown. Typically no treatment is needed. Phenobarbital aids in the conjugation of bilirubin and can be prescribed if jaundice becomes significant. Gilbert s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Bilirubinuria
In medicine, bilirubinuria is an abnormality in which conjugated bilirubin is detected in the urine. The term "biliuria" is very similar, but more general. It refers to the presence of any bile pigment in the urine. Conjugated bilirubin is detected in urine at bilirubinemia of approximately 30-34 mmol/L or 2 mg/dL. In this concentration of conjugated bilirubin in the blood appears as yellowness of the mucous membranes and sclera. Causes The most common cause of bilirubinuria is hepatocellular disease. More rare causes include inherited disorders, such as Dubin–Johnson syndrome and Rotor syndrome.Patient.UK. URLhttp://www.patient.info/showdoc/40001082/ Accessed on: May 8, 2008. Although Gilbert's syndrome Gilbert syndrome (GS) is a syndrome in which the liver of affected individuals processes bilirubin more slowly than the majority resulting in higher levels in the blood. Many people never have symptoms. Occasionally jaundice (a yellowing of the ... and Crigler–Najja ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Kernicterus
Kernicterus is a bilirubin-induced brain dysfunction. The term was coined in 1904 by Christian Georg Schmorl. Bilirubin is a naturally occurring substance in the body of humans and many other animals, but it is neurotoxic when its concentration in the blood is too high, a condition known as hyperbilirubinemia. Hyperbilirubinemia may cause bilirubin to accumulate in the grey matter of the central nervous system, potentially causing irreversible neurological damage. Depending on the level of exposure, the effects range from clinically unnoticeable to severe brain damage and even death. When hyperbilirubinemia increases past a mild level, it leads to jaundice, raising the risk of progressing to kernicterus. When this happens in adults, it is usually because of liver problems. Newborns are especially vulnerable to hyperbilirubinemia-induced neurological damage, because in the earliest days of life, the still-developing liver is heavily exercised by the breakdown of fetal hemo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Crigler–Najjar Syndrome
Crigler–Najjar syndrome is a rare inherited autosomal recessive disorder affecting the metabolism of bilirubin, a chemical formed from the breakdown of the heme in red blood cells. The disorder results in a form of non hemolytic jaundice, which results in high levels of unconjugated bilirubin and often leads to brain damage in infants. The disorder is inherited in an autosomal recessive manner. The annual incidence is estimated at 0.6-1 in 1,000,000. This syndrome is divided into types I and II, with the latter sometimes called Arias syndrome. These two types, along with Gilbert's syndrome, Dubin–Johnson syndrome, and Rotor syndrome, make up the five known hereditary defects in bilirubin metabolism. Unlike Gilbert's syndrome, only a few cases of Crigler–Najjar syndrome are known. Signs and symptoms Signs and symptoms of Crigler–Najjar syndrome include jaundice, diarrhea, vomiting, fever, confusion, slurred speech, difficulty swallowing, change in gait, staggering, fre ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Dubin–Johnson Syndrome
Dubin–Johnson syndrome is a rare, autosomal recessive, benign disorder that causes an isolated increase of conjugated bilirubin in the serum. Classically, the condition causes a black liver due to the deposition of a pigment similar to melanin. This condition is associated with a defect in the ability of hepatocytes to secrete conjugated bilirubin into the bile, and is similar to Rotor syndrome. It is usually asymptomatic, but may be diagnosed in early infancy based on laboratory tests. No treatment is usually needed. Signs and Symptoms In the majority of patients with this syndrome, they lack overt signs and are incidentally diagnosed during routine laboratory tests with isolated conjugated hyperbilirubinemia despite normal liver enzymes and otherwise normal liver function. When symptoms do appear, they may be generalized weakness, nonspecific stomach pain, yellowing of the skin and eyes (jaundice), and darkening of the urine. Around 80 to 99% of people with Dubin–Johnson s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Rotor Syndrome
Rotor syndrome (also known as Rotor type hyperbilirubinemia) is a rare cause of mixed direct (conjugated) and indirect (unconjugated) hyperbilirubinemia, relatively benign, autosomal recessive bilirubin disorder characterized by non-hemolytic jaundice due to the chronic elevation of predominantly conjugated bilirubin. Rotor type hyperbilirubinemia is a distinct yet similar disorder to Dubin–Johnson syndrome – both diseases cause an increase in conjugated bilirubin, but Rotor syndrome differs in that it is a result of impaired hepatocellular storage of conjugated bilirubin that leaks into plasma causing hyperbilirubinemia. Signs and symptoms Rotor syndrome has many features in common with Dubin–Johnson syndrome, an exception being that the liver cells are not pigmented. The main symptom is a non-itching jaundice. There is a rise in bilirubin in the patient's serum, mainly of the conjugated type. It can be differentiated from Dubin–Johnson syndrome in the following ways: ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Lucey–Driscoll Syndrome
Lucey–Driscoll syndrome is an autosomal recessive metabolic disorder affecting enzymes involved in bilirubin metabolism. It is one of several disorders classified as a transient familial neonatal unconjugated hyperbilirubinemia. Signs and symptoms Cause The common cause is congenital, but it can also be caused by maternal steroids passed on through breast milk to the newborn. It is different from breast feeding-associated jaundice (breast-fed infants have higher bilirubin levels than formula-fed ones). A defect in the UGT1A1-gene, also linked to Crigler–Najjar syndrome and Gilbert's syndrome, is responsible for the congenital form of Lucey–Driscoll syndrome. Diagnosis Treatment Treatment is as per neonatal jaundice, and includes phototherapy and exchange transfusions. If left untreated, Lucey-Driscoll syndrome may lead to seizures, kernicterus Kernicterus is a bilirubin-induced brain dysfunction. The term was coined in 1904 by Christian Georg Schmorl. Bilirubin is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breed ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Phenobarbital
Phenobarbital, also known as phenobarbitone or phenobarb, sold under the brand name Luminal among others, is a medication of the barbiturate type. It is recommended by the World Health Organization (WHO) for the treatment of certain types of epilepsy in developing country, developing countries. In the developed world, it is commonly used to treat seizures in neonatal, young children, while other medications are generally used in older children and adults. It is also used for veterinary purposes. It may be administered by slow intravenous therapy#Infusion, intravenous infusion (IV infusion), intramuscularly (IM), or oral administration, orally (swallowed by mouth). Subcutaneous administration is not recommended. The IV or IM (injectable forms) may be used to treat status epilepticus if other drugs fail to achieve satisfactory results. Phenobarbital is occasionally used to treat insomnia, anxiety disorder, anxiety, and benzodiazepine withdrawal (as well as withdrawal from certa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Ursodeoxycholic Acid
Ursodeoxycholic acid (UDCA), also known as ursodiol, is a secondary bile acid, produced in humans and most other species from metabolism by intestinal bacteria. It is synthesized in the liver in some species, and was first identified in bile of bears of genus '' Ursus'', from which its name derived. In purified form, it has been used to treat or prevent several diseases of the liver or bile ducts. It is available as a generic medication. Medical uses UDCA has been used as medical therapy in gallstone disease (cholelithiasis) and for biliary sludge. UDCA helps reduce the cholesterol saturation of bile and leads to gradual dissolution of cholesterol-rich gallstones. UDCA may be given after bariatric surgery to prevent cholelithiasis, which commonly occurs due to the rapid weight loss producing biliary cholesterol oversaturation and also biliary dyskinesia secondary to hormonal changes. Primary biliary cholangitis UDCA is used as therapy in primary biliary cholangitis (PBC; p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
