Materiały źródłowe

• #1 Gilbert syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/gilbert-syndrome/

  Gilbert syndrome is a common condition that is estimated to affect 3 to 7 percent of Americans. […] Changes in the UGT1A1 gene cause Gilbert syndrome. This gene provides instructions for making the bilirubin uridine diphosphate glucuronosyltransferase (bilirubin-UGT) enzyme, which is found primarily in liver cells and is necessary for the removal of bilirubin from the body. […] Gilbert syndrome occurs worldwide, but some mutations occur more often in particular populations. In many populations, the most common genetic change that causes Gilbert syndrome (known as UGT1A1*28) occurs in an area near the UGT1A1 gene called the promoter region, which controls the production of the bilirubin-UGT enzyme. This genetic change impairs enzyme production. […] Not everyone with the genetic changes that cause Gilbert syndrome develops hyperbilirubinemia, indicating that additional factors, such as conditions that further hinder the glucuronidation process, may be necessary for development of the condition.

• #2 Gilbert syndrome: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/000301.htm

  Gilbert syndrome is a common disorder passed down through families. It affects the way bilirubin is processed by the liver, and may cause the skin to take on a yellow color (jaundice) at times. […] Gilbert syndrome affects 1 in 10 people in some white groups. This condition occurs due to an abnormal gene, which is passed from parents to their children. […] Gilbert syndrome is due to a genetic change, but genetic testing is not needed.

• #3

  https://journals.lww.com/ajg/fulltext/2014/10002/previously_undiagnosed_gilbert_syndrome_causing.1255.aspx

  Gilbert syndrome is a relatively common condition affecting an estimated 4-16% of the population. […] Gilbert syndrome is characterized by unconjugated hyperbilirubinemia without any pathologic abnormalities of the liver parenchyma. […] The patients unconjugated hyperbilirubinemia was attributed to a new diagnosis of Gilberts syndrome. […] Given its high prevalence in the general population, it is important to always consider the possibility of Gilbert syndrome when dealing with a patient with hyperbilirubinemia without a clear etiology of cirrhosis.

• #4 Gilbert’s Syndrome: Symptoms, Causes, Tests & Treatment

  https://my.clevelandclinic.org/health/diseases/17661-gilberts-syndrome

  People with Gilbert’s syndrome inherit a mutated gene that affects the livers ability to process bilirubin, a waste product that forms during the breakdown of old red blood cells. […] Gilbert’s syndrome is genetic, meaning its passed down from parent to child through a change, or mutation, in a gene. People with Gilbert’s syndrome inherit a mutated UGT1A1 gene. […] A healthy UGT1A1 gene makes liver enzymes that break down bilirubin and remove it from the body. People with a mutated UGT1A1 gene only make about 30% of the enzymes they need. As a result, bilirubin doesnt move into bile the way it should. The excess bilirubin builds up in blood. […] Because Gilbert’s syndrome is inherited, you cant prevent it.

• #5 Gilbert’s syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Gilbert%27s_syndrome

  Gilbert syndrome is due to a genetic variant in the UGT1A1 gene which results in decreased activity of the bilirubin uridine diphosphate glucuronosyltransferase enzyme. […] Mutations in the UGT1A1 gene lead to Gilbert Syndrome. […] The gene provides instructions for making the bilirubin uridine diphosphate glucuronosyltransferase (bilirubin-UGT) enzyme, which can be found in the liver cells and is responsible for preparing bilirubin for removal from the body. […] People with Gilbert syndrome have approximately 30 percent of normal bilirubin-UGT enzyme function, which contributes to a lower rate of glucuronidation of unconjugated bilirubin. This substance then accumulates in the body, causing mild hyperbilirubinemia. […] Gilbert syndrome is a phenotypic effect, mostly associated with increased blood bilirubin levels, but also sometimes characterized by mild jaundice due to increased unconjugated bilirubin, that arises from several different genotypic variants of the gene for the enzyme responsible for changing bilirubin to the conjugated form. […] Gilbert’s syndrome is characterized by a 70-80% reduction in the glucuronidation activity of the enzyme (UGT1A1).

• #6 Gilbert Syndrome – Causes, Symptoms, Diagnosis, and Treatment PACE Hospitals – Best Hospitals in Hitech City, Hyderabad, India | Near Madhapur, Kukatpally, KPHB, Kondapur, Gachibowli, Jubilee Hills, Banjara HillsPACE Hospitals Contact Num

  https://www.pacehospital.com/gilbert-syndrome-causes-symptoms-diagnosis-treatment

  Gilbert syndrome is defined as a common genetic disorder that affects the metabolism of bilirubin in the liver. It is an autosomal recessive condition that leads to mild to moderate unconjugated hyperbilirubinemia (increased levels of bilirubin in the blood), it is often presented as recurrent jaundice episodes. […] Mutations or changes in the UGT1A1 gene cause Gilbert syndrome. The UGT1A1 gene provides instructions to produce bilirubin uridine diphosphatase glucuronosyltransferase (bilirubin – UGT) enzyme which is found in liver cells. This enzyme removes bilirubin from the body. […] The most common genetic mutation that causes Gilbert syndrome (called UGT1A1*28) in many populations develops in an area near the UGT1A1 gene called as promoter region. This promoter region controls the production of the bilirubin UGT enzyme. The genetic mutation impairs enzyme production.

• #7 Gilbert syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/gilbert-syndrome/

  Gilbert syndrome is a common condition that is estimated to affect 3 to 7 percent of Americans. […] Changes in the UGT1A1 gene cause Gilbert syndrome. This gene provides instructions for making the bilirubin uridine diphosphate glucuronosyltransferase (bilirubin-UGT) enzyme, which is found primarily in liver cells and is necessary for the removal of bilirubin from the body. […] Gilbert syndrome occurs worldwide, but some mutations occur more often in particular populations. In many populations, the most common genetic change that causes Gilbert syndrome (known as UGT1A1*28) occurs in an area near the UGT1A1 gene called the promoter region, which controls the production of the bilirubin-UGT enzyme. This genetic change impairs enzyme production. […] Not everyone with the genetic changes that cause Gilbert syndrome develops hyperbilirubinemia, indicating that additional factors, such as conditions that further hinder the glucuronidation process, may be necessary for development of the condition.

• #8 Unconjugated Hyperbilirubinemia: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/178841-overview

  Gilbert syndrome is believed to affect approximately 3-10% of the adult population. […] Gilbert syndrome (decreased uptake and/or conjugation) […] Gilbert syndrome is a benign, familial disorder inherited in an autosomal recessive pattern characterized by intermittent jaundice in the absence of hemolysis or an underlying liver disease. The condition is recognized to arise from a mutation in the promoter region of the UGT1A1 gene, which results in reduced UGT production. […] Hepatic bilirubin UGT activity is consistently decreased to approximately 30% of normal in individuals with Gilbert syndrome. Decreased bilirubin-UGT activity has been attributed to an expansion of thymine-adenine (TA) repeats in the promoter region of the UGT-1TA gene. […] In Gilbert syndrome, the UGT1A1*28 variant reduces bilirubin conjugation by 70% and is associated with irinotecan and protease inhibitor side effects.

• #9 Gilbert syndrome | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/gilbert-syndrome?lang=us

  Gilbert syndrome is a hereditary condition which can result in jaundice. […] It carries an autosomal recessive inheritance with incomplete penetrance. The most frequently observed genotype is a polymorphism of the promoter of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene, specifically known as UGT1A1*28.

• #10 Gilbert Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470200/

  The bilirubin value typically returns to normal within 12 to 24 hours with a normal diet. Several theories have been proposed to explain unconjugated hyperbilirubinemia following dietary manipulation, including increased cycling of bilirubin by the enterohepatic circulation, decreased conjugation due to decreased levels of uridine 5′-diphospho-glucuronosyltransferase-glucuronic acid, a cosubstrate in glucuronidation, and release of bilirubin from fat cells. […] Gilbert syndrome is inherited in an autosomal recessive manner. In the White population, Gilbert syndrome is most commonly associated with the homozygous polymorphism A(TA)7TAA in the promoter region of UGT1A1 (uridine diphosphoglucoronate-glucuronosyltransferase 1A1), which leads to a significant reduction in the glucuronidation of bilirubin. […] More than 100 mutations have been associated with Gilbert Syndrome, with different frequencies noted in different ethnic groups. This is also why genetic testing should not be used to diagnose Gilbert syndrome definitively.

• #11

  https://omim.org/entry/143500

  Gilbert syndrome is generally considered to be an autosomal recessive disorder (Chowdhury et al., 2001). However, there have been cases of heterozygosity and compound heterozygosity reported in patients with Gilbert syndrome, particularly among the Asian population. […] In 6 unrelated Japanese families with Gilbert syndrome, Koiwai et al. (1995) demonstrated that affected members were heterozygous for several different missense mutations in the UGT1 gene, including a G-to-A change at nucleotide 211 in exon 1, resulting in a gly71-to-arg substitution (G71R; 191740.0016), and a C-to-A change at nucleotide 686, resulting in a pro229-to-gln substitution (P229Q; 191740.0010). […] Bosma et al. (1995) found that the coding region of the UGT1A1 gene was normal in 10 patients with Gilbert syndrome, but that these patients were homozygous for 2 extra bases (TA) in the TATAA element of the 5-prime promoter region of the gene; they found A(TA)7TAA (191740.0011) rather than the normal A(TA)6TAA. The presence of the longer TATAA element resulted in reduced expression of a reporter gene construct encoding firefly luciferase in a human hepatoma cell line.

• #12 Gilbert syndrome | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/gilbert-syndrome?content_id=CON-20372795

  Gilbert syndrome is caused by a modified gene you inherit from your parents. This gene usually controls an enzyme that helps break down bilirubin in your liver. When you have an ineffective gene, your blood contains excess amounts of bilirubin because your body doesn’t produce enough of the enzyme. […] The modified gene that causes Gilbert syndrome is common. Many people carry one copy of this gene. In most cases, two modified copies are needed to cause Gilbert syndrome.

• #13 Patient education: Gilbert syndrome (Beyond the Basics) – UpToDate

  https://www.uptodate.com/contents/gilbert-syndrome-beyond-the-basics/print

  Gilbert syndrome is an inherited disorder of the liver that results in an overabundance of a substance known as bilirubin. […] People with Gilbert syndrome have an inherited abnormality that causes reduced production of an enzyme involved in processing bilirubin. […] Every affected person has two copies of the abnormal gene responsible for Gilbert syndrome. […] Interestingly, people who have only one copy may have slightly higher levels of unconjugated bilirubin but do not have Gilbert syndrome. […] For reasons that are not entirely understood, not all people who have two copies of the abnormal gene develop blood bilirubin levels that are high enough for the diagnosis of Gilbert syndrome.

• #14 The genetic basis of Gilbert’s Syndrome: an overview. | Genetics Digest

  https://www.geneticsdigest.com/the-genetic-basis-of-gilberts-syndrome-an-overview/?srsltid=AfmBOoodLOdPO6GZg6KD8cXCCmkuI_1uxNFvG8NqYFZcoqvdyoWNnpxt

  Gilberts syndrome is caused by a modification in the DNA (known as mutation) of the gene known as uridine diphosphate-glucuronosyltransferase-1A1 (UGT1A1). […] The mutated (abnormal) UGT1A1 gene that causes Gilberts syndrome is common. […] This means that DNA mutations in the UGT1A1 gene may be inherited from both parents to develop this syndrome. […] The most common genetic mutation (permanent alteration in the DNA sequence) that produces Gilberts syndrome occurs in an area of DNA near the UGT1A1 gene, known as promoter region, which controls the production of the UGT enzyme. […] Importantly, it has also been observed that another type of mutation in the UGT1A1 gene can cause Gilberts syndrome (commonly in Asians populations). […] Additional types of mutations in the UGT1A1 gene can cause a syndrome known as Crigler-Najjar syndrome, which is a more dangerous and severe form of hyperbilirubinemia.

• #15 Gilbert syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/gilbert-syndrome/

  Gilbert syndrome is a common condition that is estimated to affect 3 to 7 percent of Americans. […] Changes in the UGT1A1 gene cause Gilbert syndrome. This gene provides instructions for making the bilirubin uridine diphosphate glucuronosyltransferase (bilirubin-UGT) enzyme, which is found primarily in liver cells and is necessary for the removal of bilirubin from the body. […] Gilbert syndrome occurs worldwide, but some mutations occur more often in particular populations. In many populations, the most common genetic change that causes Gilbert syndrome (known as UGT1A1*28) occurs in an area near the UGT1A1 gene called the promoter region, which controls the production of the bilirubin-UGT enzyme. This genetic change impairs enzyme production. […] Not everyone with the genetic changes that cause Gilbert syndrome develops hyperbilirubinemia, indicating that additional factors, such as conditions that further hinder the glucuronidation process, may be necessary for development of the condition.

• #16 Gilbert’s syndrome – British Liver Trust

  https://britishlivertrust.org.uk/information-and-support/liver-conditions/gilberts-syndrome/

  Gilberts syndrome is caused by a higher than normal amount of bilirubin in your blood. […] If you have Gilberts syndrome, there is a difference in one or more of these enzymes. This means that the process for removing bilirubin does not work normally. Less bilirubin comes out in your poo, and more stays in your blood. […] Several different variants are known to cause Gilberts Syndrome. In the UK the most common variants are in a gene called UGT1A1. These variants mean you make less of an enzyme also called UGT1A1. […] The variant genes that cause Gilberts syndrome can be passed on from parent to child. This is why Gilberts syndrome often runs in families. […] But the variant genes on their own do not always cause symptoms. Many people who inherit the variant gene will not have any symptoms of Gilberts syndrome. So even if you have the condition, other members of your family might not.

• #17

  https://omim.org/entry/143500

  Gilbert syndrome is generally considered to be an autosomal recessive disorder (Chowdhury et al., 2001). However, there have been cases of heterozygosity and compound heterozygosity reported in patients with Gilbert syndrome, particularly among the Asian population. […] In 6 unrelated Japanese families with Gilbert syndrome, Koiwai et al. (1995) demonstrated that affected members were heterozygous for several different missense mutations in the UGT1 gene, including a G-to-A change at nucleotide 211 in exon 1, resulting in a gly71-to-arg substitution (G71R; 191740.0016), and a C-to-A change at nucleotide 686, resulting in a pro229-to-gln substitution (P229Q; 191740.0010). […] Bosma et al. (1995) found that the coding region of the UGT1A1 gene was normal in 10 patients with Gilbert syndrome, but that these patients were homozygous for 2 extra bases (TA) in the TATAA element of the 5-prime promoter region of the gene; they found A(TA)7TAA (191740.0011) rather than the normal A(TA)6TAA. The presence of the longer TATAA element resulted in reduced expression of a reporter gene construct encoding firefly luciferase in a human hepatoma cell line.

• #18 Gilbert Syndrome and Genetic Findings in Children: A Tertiary-Center Experience from Turkey

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9131810/

  Gilbert syndrome (GS) is a disease characterized by mildly elevated indirect serum bilirubin levels due to mutation in the promoter of the UGT1A1 gene, which causes a decrease in uridine diphosphate glucuronyltransferase enzyme activity. […] Gilbert syndrome is caused by mutation in the promoter region of UGT1A1 gene (2q37), which causes a decrease in uridine diphosphate glucuronyltransferase (UGT) enzyme activity. […] Another molecular genetic etiological cause of GS is sequence variants. […] We suggested that the variant [c.880_893delinsA (p.Tyr294MetfsTer69)] was causing partial enzyme deficiency leading to the GS phenotype. […] Seven TA repeats responsible for the development of GS were detected in the majority of the patients (75.5%) in our study. […] Another molecular genetic etiological cause of GS other than promoter region polymorphisms is sequence variants.

• #19 Gilbert’s syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Gilbert%27s_syndrome

  Gilbert syndrome is due to a genetic variant in the UGT1A1 gene which results in decreased activity of the bilirubin uridine diphosphate glucuronosyltransferase enzyme. […] Mutations in the UGT1A1 gene lead to Gilbert Syndrome. […] The gene provides instructions for making the bilirubin uridine diphosphate glucuronosyltransferase (bilirubin-UGT) enzyme, which can be found in the liver cells and is responsible for preparing bilirubin for removal from the body. […] People with Gilbert syndrome have approximately 30 percent of normal bilirubin-UGT enzyme function, which contributes to a lower rate of glucuronidation of unconjugated bilirubin. This substance then accumulates in the body, causing mild hyperbilirubinemia. […] Gilbert syndrome is a phenotypic effect, mostly associated with increased blood bilirubin levels, but also sometimes characterized by mild jaundice due to increased unconjugated bilirubin, that arises from several different genotypic variants of the gene for the enzyme responsible for changing bilirubin to the conjugated form. […] Gilbert’s syndrome is characterized by a 70-80% reduction in the glucuronidation activity of the enzyme (UGT1A1).

• #20 Gilbert Syndrome – Causes, Symptoms, Diagnosis, and Treatment PACE Hospitals – Best Hospitals in Hitech City, Hyderabad, India | Near Madhapur, Kukatpally, KPHB, Kondapur, Gachibowli, Jubilee Hills, Banjara HillsPACE Hospitals Contact Num

  https://www.pacehospital.com/gilbert-syndrome-causes-symptoms-diagnosis-treatment

  Unconjugated bilirubin is not glucuronidated quickly as people with Gilbert syndrome have 30 % of normal bilirubin UGT enzyme function. As a result, unconjugated bilirubin accumulates in the body causing mild hyperbilirubinemia. […] Not everyone with Gilbert syndrome develops hyperbilirubinemia, which indicates that other factors hinder the glucuronidation process and contribute to the condition.

• #21 Pulsenotes | Gilbert syndrome

  https://app.pulsenotes.com/medicine/hepatology/notes/gilbert-syndrome

  Gilbert syndrome is due to impaired bilirubin glucuronidation. […] Gilbert syndrome is an autosomal recessive disorder due to a genetic defect in the promoter region of the gene that encodes the enzyme uridine diphosphoglucuronate-glucuronosyltransferase 1A1 (UGT1A1). This enzyme conjugates (i.e. joins) bilirubin and glucuronic acid making it water-soluble and able to be excreted into bile. […] The mutation in the promoter region leads to reduced activity of the enzyme (~30% of normal).

• #22 Gilbert syndrome: Symptoms, diet, and treatment

  https://www.medicalnewstoday.com/articles/166971

  Gilbert syndrome is a genetic condition where a person has high levels of bilirubin pigment as the liver cannot process it properly. […] In Gilbert syndrome, the liver does not process bilirubin effectively, due to an inherited genetic abnormality. This causes it to build up in the body. […] A person is born with Gilbert syndrome, when the gene is passed on from a parent, or parents. An individual is more likely to have it if both parents pass on the gene. […] The gene causes hyperbilirubinemia, or elevated blood levels of bilirubin. […] This happens because of reduced activity by the enzyme glucuronyltransferase, which conjugates, or converts, bilirubin to a water-soluble form after it is released from red blood cells at the end of their 120-day life span.

• #23 All about Gilbert Syndrome – Mun Kombucha

  https://munkombucha.com/en/blogs/all/all-about-gilbert-syndrome?srsltid=AfmBOoqP0kptgNw9heEcQwmW7tjatYTUo8u2mVp6g_2aOLZHsIjNzFTU

  Gilbert syndrome, named after the French gastroenterologist Nicolas Augustin Gilbert in 1901, is a benign, hereditary disease associated with an intermittently high level of bilirubin in the blood, caused by a deficiency of the enzyme glucuronosyltransferase. Gilbert syndrome is a genetic error that affects detoxification. The liver is not able to properly process bilirubin and remove it from the body effectively. […] Gilbert syndrome is caused by a decreased ability to excrete bilirubin. When passing through the liver, bilirubin reacts with glucuronic acid, transforming it into „conjugated” or direct bilirubin, which allows it to dissolve in water and be excreted in the bile. […] The enzyme that is responsible for conjugating bilirubin is called uridinediphosphoglucuronate glucuronosyltransferase (UGT) and its production is regulated by a gene that, if it has a certain mutation, causes less production of this enzyme. The UGT is reduced in Gilbert Syndrome to 31% of the normal value. […] The prevalence of Gilbert syndrome can vary. In Africa it ranges between 15-25%, in Caucasian populations between 5-10% and in Asia 0-5%. It is usually detected more in men than in women.

• #24 Gilbert Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470200/

  The bilirubin value typically returns to normal within 12 to 24 hours with a normal diet. Several theories have been proposed to explain unconjugated hyperbilirubinemia following dietary manipulation, including increased cycling of bilirubin by the enterohepatic circulation, decreased conjugation due to decreased levels of uridine 5′-diphospho-glucuronosyltransferase-glucuronic acid, a cosubstrate in glucuronidation, and release of bilirubin from fat cells. […] Gilbert syndrome is inherited in an autosomal recessive manner. In the White population, Gilbert syndrome is most commonly associated with the homozygous polymorphism A(TA)7TAA in the promoter region of UGT1A1 (uridine diphosphoglucoronate-glucuronosyltransferase 1A1), which leads to a significant reduction in the glucuronidation of bilirubin. […] More than 100 mutations have been associated with Gilbert Syndrome, with different frequencies noted in different ethnic groups. This is also why genetic testing should not be used to diagnose Gilbert syndrome definitively.

• #25 Gilbert’s Syndrome | Doctor

  https://patient.info/doctor/gilberts-syndrome-pro

  Gilbert’s syndrome is usually an autosomal recessive disorder and is a common cause of unconjugated hyperbilirubinaemia. […] People with Gilbert’s syndrome have a defect in the gene that encodes for the conjugating enzyme uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1), which results in a 60-70% reduction in the liver’s ability to conjugate bilirubin. […] More than 100 different mutations have been identified in the UGT1A1 gene and their frequencies differ amongst different ethnic groups.

• #26

  https://omim.org/entry/143500

  Gilbert syndrome is generally considered to be an autosomal recessive disorder (Chowdhury et al., 2001). However, there have been cases of heterozygosity and compound heterozygosity reported in patients with Gilbert syndrome, particularly among the Asian population. […] In 6 unrelated Japanese families with Gilbert syndrome, Koiwai et al. (1995) demonstrated that affected members were heterozygous for several different missense mutations in the UGT1 gene, including a G-to-A change at nucleotide 211 in exon 1, resulting in a gly71-to-arg substitution (G71R; 191740.0016), and a C-to-A change at nucleotide 686, resulting in a pro229-to-gln substitution (P229Q; 191740.0010). […] Bosma et al. (1995) found that the coding region of the UGT1A1 gene was normal in 10 patients with Gilbert syndrome, but that these patients were homozygous for 2 extra bases (TA) in the TATAA element of the 5-prime promoter region of the gene; they found A(TA)7TAA (191740.0011) rather than the normal A(TA)6TAA. The presence of the longer TATAA element resulted in reduced expression of a reporter gene construct encoding firefly luciferase in a human hepatoma cell line.

• #27 Gilbert Syndrome and Genetic Findings in Children: A Tertiary-Center Experience from Turkey

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9131810/

  Gilbert syndrome (GS) is a disease characterized by mildly elevated indirect serum bilirubin levels due to mutation in the promoter of the UGT1A1 gene, which causes a decrease in uridine diphosphate glucuronyltransferase enzyme activity. […] Gilbert syndrome is caused by mutation in the promoter region of UGT1A1 gene (2q37), which causes a decrease in uridine diphosphate glucuronyltransferase (UGT) enzyme activity. […] Another molecular genetic etiological cause of GS is sequence variants. […] We suggested that the variant [c.880_893delinsA (p.Tyr294MetfsTer69)] was causing partial enzyme deficiency leading to the GS phenotype. […] Seven TA repeats responsible for the development of GS were detected in the majority of the patients (75.5%) in our study. […] Another molecular genetic etiological cause of GS other than promoter region polymorphisms is sequence variants.

• #28 Gilbert Syndrome and Genetic Findings in Children: A Tertiary-Center Experience from Turkey

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9131810/

  In 3 patients, 2 different sequence variants [c.880_893delinsA (p.Tyr294MetfsTer69) and c.1091CT(p.Pro365Leu)] were detected. […] This variant was previously associated with a significant reduction in UGT1A1 enzyme activity and GS phenotype. […] This variant was previously associated with CriglerNajjar syndrome type 1; however, since CriglerNajjar syndrome is an autosomal recessive disorder and was detected in a heterozygous state, we suggested that the variant was causing partial enzyme deficiency leading to the GS phenotype.

• #29 Gilbert Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470200/

  Gilbert syndrome is a common genetic disorder affecting bilirubin metabolism in the liver. This autosomal recessive condition leads to mild to moderate unconjugated hyperbilirubinemia, often presenting as recurrent episodes of jaundice. […] Gilbert syndrome is a common genetic disorder affecting bilirubin metabolism in the liver. This condition, described in the early 1900s by Gilbert, Castaigne, and Lereboulette, is an autosomal recessive disorder that is a frequent cause of mild-to-moderate isolated unconjugated hyperbilirubinemia. The prevalence of Gilbert syndrome ranges from 2% to 20%, depending on an individual’s ethnicity. […] A variety of triggers can precipitate unconjugated hyperbilirubinemia and jaundice in patients with Gilbert syndrome. Fasting, hemolytic reactions, febrile illnesses, menstruation, and physical exertion are common precipitants.

• #30 Pediatric Gilbert’s syndrome – Children’s Health Gastroenterology (GI)

  https://www.childrens.com/specialties-services/conditions/pediatric-gilberts-disease

  Gilberts syndrome is a liver disorder in which bilirubin is not properly processed. […] A gene mutation that is hereditary (passed down in families) causes Gilberts disease. There are certain conditions and situations that can lead to increased bilirubin levels. […] These include: Cold or flu, Dehydration, Fasting or eating too few of calories, Menstruation, Not getting enough sleep, Stress, Vigorous exercise.

• #31 GILBERT’S SYNDROME – SYMPTOMS, TRIGGERS, CAUSES, AND TREATMENT | Mya Care

  https://myacare.com/blog/gilberts-syndrome-symptoms-triggers-causes-and-treatment

  Gilbert Syndrome is caused by the combination of inherited genetics and factors that trigger jaundice. […] Genetic underpinnings for Gilbert Syndrome interfere with the metabolism of bilirubin, which is a by-product of red blood cell turnover. […] Most cases of Gilberts Syndrome are caused by a mutation on the gene coding for the glucuronidation enzyme UGT1A1. […] The mutation affects the UGT1A1 promoter, referred to as A(TA)7TAA, and the mutated enzyme is known as UGT1A1*28. […] Studies hint at a second genetic defect that reduces the ability of liver cells to absorb bilirubin. […] The combination of reduced liver uptake and limited conjugation predisposes those with Gilbert Syndrome to have higher than average blood bilirubin levels. […] Hyperbilirubinemia in those with Gilbert Syndrome reduces intestinal motility and increases gut permeability by 1.5-2 times, resulting in a higher uptake of unconjugated bilirubin and slower bilirubin disposal.

• #32 Gilbert Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470200/

  Gilbert syndrome is a common genetic disorder affecting bilirubin metabolism in the liver. This autosomal recessive condition leads to mild to moderate unconjugated hyperbilirubinemia, often presenting as recurrent episodes of jaundice. […] Gilbert syndrome is a common genetic disorder affecting bilirubin metabolism in the liver. This condition, described in the early 1900s by Gilbert, Castaigne, and Lereboulette, is an autosomal recessive disorder that is a frequent cause of mild-to-moderate isolated unconjugated hyperbilirubinemia. The prevalence of Gilbert syndrome ranges from 2% to 20%, depending on an individual’s ethnicity. […] A variety of triggers can precipitate unconjugated hyperbilirubinemia and jaundice in patients with Gilbert syndrome. Fasting, hemolytic reactions, febrile illnesses, menstruation, and physical exertion are common precipitants.

• #33 Gilbert Syndrome – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/gilbert-syndrome/

  Gilbert syndrome is a condition that can cause increased levels of a substance called bilirubin (known as unconjugated hyperbilirubinemia) and yellowing of the skin and eyes (jaundice). […] Several possible explanations exist as to why diet changes can cause a rise in bilirubin levels in people with Gilbert syndrome. Theories include an increased recycling of bilirubin in the liver and gut, a decrease in bilirubin binding due to a decrease in a substance known as UDP-glucuronic acid, and the release of bilirubin from fat cells. […] Gilbert syndrome is typically inherited and is caused by a genetic mutation. […] The doctor needs to rule out the following conditions when diagnosing Gilbert Syndrome: 1. Diseases that impact bilirubin uptake. 2. Diseases that impact the combination or conjugation of bilirubin. 3. Diseases that cause overproduction of bilirubin. 4. Liver-related conditions like Crigler-Najjar syndrome. 5. Genetic disorders of red blood cells. 6. Infections. 7. Reaction to medication or toxins. 8. Some types of anemia. 9. Viral, metabolic, or autoimmune liver disorders.

• #34 Gilbert’s syndrome | nidirect

  https://www.nidirect.gov.uk/conditions/gilberts-syndrome

  Gilberts syndrome is a genetic disorder that’s hereditary (it runs in families). […] People with the syndrome have a faulty gene which causes the liver to have problems removing bilirubin from the blood. […] In Gilberts syndrome, the faulty gene means that bilirubin isn’t passed into bile (a fluid produced by the liver to help with digestion) at the normal rate. […] Other than inheriting the faulty gene, there are no known risk factors for developing Gilbert’s syndrome. […] It isn’t related to lifestyle habits, environmental factors or serious underlying liver problems, such as cirrhosis or hepatitis C.

• #35 Gilbert Syndrome Symptoms and Causes

  https://www.verywellhealth.com/gilbert-syndrome-overview-4178232

  Gilbert syndrome is a genetic, inherited condition, which means its passed down through families. […] People who have the syndrome have an impaired gene, called the UGT1A1 gene, which makes it difficult for the liver to sufficiently remove bilirubin from the blood. […] Aside from a genetic variant, there are no other known causes of Gilbert syndrome. The condition isnt linked to severe liver diseases like cirrhosis or hepatitis C, lifestyle practices, or environmental influences.

• #36 Gilbert’s syndrome | Clear Chemist

  https://www.clearchemist.co.uk/az-health/gilbert-s-syndrome

  Gilberts syndrome is a genetic condition. People with Gilberts syndrome have a faulty gene that means their liver has problems removing a substance in the blood called bilirubin. […] Other than inheriting the faulty gene, there are no known risk factors for developing Gilbert’s syndrome. It is not related to any lifestyle habits, environmental factors or serious underlying liver problems (such as cirrhosis or hepatitis C).

• #37 Gilbert’s syndrome | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/gilberts-syndrome

  Gilberts syndrome is characterised by the livers inability to process the yellowish-brown pigment in bile (bilirubin). […] Gilberts syndrome is a common, mild disorder thought to be inherited in around half of all cases. […] Gilberts syndrome occurs due to the reduced activity of a liver enzyme that makes the liver less capable of processing bilirubin. […] There is no evidence to suggest that the condition is harmful or leads to more serious diseases.

• #38 Gilbert Syndrome | Houston, Texas USA |

  https://www.texasliver.com/gilbert-syndrome/

  Gilbert syndrome is the most common inherited cause of unconjugated hyperbilirubinemia. […] This is a genetic condition, which is associated with intermittent levels of jaundice, in the absence of any sort of underlying chronic liver disease. […] Gilbert syndrome and its associated rise in bilirubin may be precipitated by viral illnesses, excessive exercise, stress, starvation, dehydration, and a womans menstrual period. […] No treatment is required for Gilbert syndrome. […] Gilbert syndrome does not lead to more advanced liver disease, cirrhosis, cancer, or liver failure.

• #39 Gilbert’s syndrome – Knowledge and References – Taylor & Francis

  https://taylorandfrancis.com/knowledge/Medicine_and_healthcare/Gastroenterology/Gilbert%27s_syndrome/

  Gilbert’s syndrome is an autosomal dominant condition characterized by reduced levels of the enzyme UDP glucuronosyl transferase in the liver, which results in reduced conjugation of bilirubin and slightly raised serum bilirubin levels. This condition is usually harmless. […] Gilbert syndrome is an autosomal recessive inherited metabolic disorder (although occasionally inherited in an autosomal dominant fashion depending on the type of mutation), causing increased levels of unconjugated bilirubin in the blood. It is a common hereditary cause of hyperbilirubinaemia. There is decreased activity of the enzyme glucuronyltransferase, which conjugates bilirubin in the liver. […] Variants in the UGT1A1 gene are also responsible for the more common and mild hyperbilirubinemia observed in the 3–7% of the United States population with Gilbert’s syndrome. Gilbert’s syndrome is associated with homozygous (TA)7TAA alleles (versus (TA)6TAA in wild-type individuals), referred to as UGT1A1*28 as previously described. […] Gilbert’s syndrome is thus considered an entirely benign and clinically inconsequential entity requiring neither treatment nor long-term medical attention, although mild hyperbilirubinemia is sometimes mistaken for a sign of occult, chronic, or progressive liver disease.

• #40 Reddit – The heart of the internet

  https://www.reddit.com/r/PeterAttia/comments/16ez9uj/gilberts_syndrome/

  Gilbert Syndrome is a semi-rare (~2% of people) liver mutation that causes slightly elevated bilirubin. […] Apparently the elevated unconjugated bilirubin acts as a very potent anti-oxidant, meaning it does a very good job at keeping the blood vessels clean. Consequently, GS is very strongly linked with decreased all-cause mortality, most notably in the cardiac department, but also extending to neurodegenerative disease and cancer. […] I’m also wondering whether given these findings it might be worthwhile for non-GS individuals to try and slightly elevate their unconjugated bilirubin in one way or the other?

• #41 Effects of Gilbert’s Syndrome | Charles River

  https://www.criver.com/eureka/the-protective-effect-of-gilbert-syndrome

  Gilbert syndrome (GS) is a hereditary condition that is usually mild and, ironically, a protective factor against much more serious diseases. […] People with Gilbert syndrome inherit a mutation in one of their liver enzymes responsible for producing conjugated bilirubin. […] Surprisingly, researchers found evidence that mildly elevated bilirubin levels reduce the risk of developing cancer and cardiovascular diseases. […] If confirmed by more epidemiological data, then a metabolic dysfunction could be considered a protective factor in prevention strategies.

• #42 Gilbert’s Syndrome and Proteinuria: A Case Report

  https://austinpublishinggroup.com/chronic-diseases/fulltext/chronicdiseases-v2-id1016.php

  Gilberts syndrome is characterized by increased unconjugated bilirubin in the plasma, due to mutations in hepatic UDP-glucuronosyltransferase (UGT1A1), which decrease the conjugation of bilirubin in the liver. […] The enzyme abnormality in Gilberts syndrome results in mild elevations of bilirubin in the blood, particularly after starvation or dehydration. […] Previous studies have shown that mutations in UGT1A1, such as in Gilberts syndrome, which resulted in moderated increases in plasma bilirubin (twofold) were protective against atherosclerosis, coronary heart disease, metabolic syndrome, diabetic nephropathy and end stage of renal disease. […] We report a case of patient in whom a mild hyperbilirubinemia due to Gilberts syndrome coexisted with single proteinuria less than 1 gr/day.

• #43 Unconjugated Hyperbilirubinemia: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/178841-overview

  Gilbert syndrome is believed to affect approximately 3-10% of the adult population. […] Gilbert syndrome (decreased uptake and/or conjugation) […] Gilbert syndrome is a benign, familial disorder inherited in an autosomal recessive pattern characterized by intermittent jaundice in the absence of hemolysis or an underlying liver disease. The condition is recognized to arise from a mutation in the promoter region of the UGT1A1 gene, which results in reduced UGT production. […] Hepatic bilirubin UGT activity is consistently decreased to approximately 30% of normal in individuals with Gilbert syndrome. Decreased bilirubin-UGT activity has been attributed to an expansion of thymine-adenine (TA) repeats in the promoter region of the UGT-1TA gene. […] In Gilbert syndrome, the UGT1A1*28 variant reduces bilirubin conjugation by 70% and is associated with irinotecan and protease inhibitor side effects.

• #44 Gilbert’s Syndrome + 10 Natural Ways to Boost Liver Health – Dr. Axe

  https://draxe.com/health/gilberts-syndrome/

  Gilberts syndrome, also known as constitutional hepatic dysfunction and familial nonhemolytic jaundice occurs when the liver doesnt process bilirubin properly. […] This condition is caused by an inherited gene mutation, and you may never get a Gilberts syndrome diagnosis until a blood test indicates elevated bilirubin levels. […] Estimated to affect somewhere between 3 percent and 7 percent of Americans, Gilberts syndrome is caused by a change in the UGT1A1 gene. This is a genetic disease that can be passed from either mother or father. […] Gilberts syndrome is a genetic disease. […] Gilberts syndrome is a harmless liver condition that occurs when the liver doesnt process bilirubin properly. […] Diagnosis may not occur until you present with jaundice or have a routine blood test that indicates elevated levels of bilirubin. […] It generally does not require treatment; however, it is important to inform your doctors as Gilberts syndrome may cause your body to improperly process some medications.

• #45 Got High Bilirubin? Get A Load Of Gilberts Syndrome – A Gut-Brain Phenomenon – Sydney Naturopath & Nutritionist

  https://stevenjudge.com.au/got-high-bilirubin-get-a-load-of-gilberts-syndrome-a-gut-brain-phenomenon/

  Due to the direct effects of high bilirubin on gut-wall permeability, it is common to see dysbiosis – imbalance of ‘good’ and ‘bad’ gut bacteria – when assessing gut microbiome testing on patients with Gilbert’s Syndrome. […] Is UCB an underestimated neurotoxin? Research is continuing to highlight that this is very likely for a number of reasons. […] Impaired dopamine handling, glutamate dysregulation & inflammatory cytokine production that are influenced by high levels of UCB can have a dramatic impact on mental health and can be related to patients experiencing anxiety, fatigue & cognitive impairment. […] Oestrogen dominant symptoms & conditions are extremely common in Gilbert’s Syndrome due to inadequate detoxification of oestrogen via the glucuronidation pathway. […] If other more serious reasons for high bilirubin have been excluded – haemolytic anaemia, hepatitis, cirrhosis, blocked bile ducts due to gallstones – then Gilberts Syndrome is likely to be the correct diagnosis. […] The glucuronidation pathway is responsible for detoxifying neurotransmitters, hormones, drugs, and carcinogens.

• #46 Gilbert Syndrome – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/gilbert-syndrome/

  Gilbert syndrome is a condition that can cause increased levels of a substance called bilirubin (known as unconjugated hyperbilirubinemia) and yellowing of the skin and eyes (jaundice). […] Several possible explanations exist as to why diet changes can cause a rise in bilirubin levels in people with Gilbert syndrome. Theories include an increased recycling of bilirubin in the liver and gut, a decrease in bilirubin binding due to a decrease in a substance known as UDP-glucuronic acid, and the release of bilirubin from fat cells. […] Gilbert syndrome is typically inherited and is caused by a genetic mutation. […] The doctor needs to rule out the following conditions when diagnosing Gilbert Syndrome: 1. Diseases that impact bilirubin uptake. 2. Diseases that impact the combination or conjugation of bilirubin. 3. Diseases that cause overproduction of bilirubin. 4. Liver-related conditions like Crigler-Najjar syndrome. 5. Genetic disorders of red blood cells. 6. Infections. 7. Reaction to medication or toxins. 8. Some types of anemia. 9. Viral, metabolic, or autoimmune liver disorders.

• #47 Inborn Metabolic Disorders Causing Hyperbilirubinemia – Hepatic and Biliary Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/hepatic-and-biliary-disorders/approach-to-the-patient-with-liver-disease/inborn-metabolic-disorders-causing-hyperbilirubinemia

  Gilbert syndrome is a presumably lifelong disorder in which the only significant abnormality is asymptomatic, mild, unconjugated hyperbilirubinemia. It can be mistaken for chronic hepatitis or other liver disorders. […] Gilbert syndrome may affect as many as 5% of people. Although family members may be affected, a clear genetic pattern is difficult to establish. […] Pathogenesis may involve complex defects in the livers uptake of bilirubin. Glucuronyl transferase activity is low, though not as low as in Crigler-Najjar syndrome type II. In many patients, red blood cell destruction is also slightly accelerated, but this acceleration does not cause anemia or hyperbilirubinemia. […] Gilbert syndrome is most often detected in young adults serendipitously by finding an elevated bilirubin level, which usually fluctuates between 2 and 5 mg/dL (34 and 86 micromol/L) and tends to increase with fasting and other stresses. […] Gilbert syndrome is differentiated from hepatitis by fractionation that shows predominantly unconjugated bilirubin, otherwise normal liver test results, and absence of urinary bilirubin. It is differentiated from hemolysis by the absence of anemia and reticulocytosis.

• #48 Inborn Metabolic Disorders Causing Hyperbilirubinemia – Hepatic and Biliary Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/hepatic-and-biliary-disorders/approach-to-the-patient-with-liver-disease/inborn-metabolic-disorders-causing-hyperbilirubinemia

  Gilbert syndrome is a presumably lifelong disorder in which the only significant abnormality is asymptomatic, mild, unconjugated hyperbilirubinemia. It can be mistaken for chronic hepatitis or other liver disorders. […] Gilbert syndrome may affect as many as 5% of people. Although family members may be affected, a clear genetic pattern is difficult to establish. […] Pathogenesis may involve complex defects in the livers uptake of bilirubin. Glucuronyl transferase activity is low, though not as low as in Crigler-Najjar syndrome type II. In many patients, red blood cell destruction is also slightly accelerated, but this acceleration does not cause anemia or hyperbilirubinemia. […] Gilbert syndrome is most often detected in young adults serendipitously by finding an elevated bilirubin level, which usually fluctuates between 2 and 5 mg/dL (34 and 86 micromol/L) and tends to increase with fasting and other stresses. […] Gilbert syndrome is differentiated from hepatitis by fractionation that shows predominantly unconjugated bilirubin, otherwise normal liver test results, and absence of urinary bilirubin. It is differentiated from hemolysis by the absence of anemia and reticulocytosis.

• #49 Gilbert syndrome: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/000301.htm

  Gilbert syndrome is a common disorder passed down through families. It affects the way bilirubin is processed by the liver, and may cause the skin to take on a yellow color (jaundice) at times. […] Gilbert syndrome affects 1 in 10 people in some white groups. This condition occurs due to an abnormal gene, which is passed from parents to their children. […] Gilbert syndrome is due to a genetic change, but genetic testing is not needed.

• #50 Unusual presentation of Gilbert disease with high levels of unconjugated bilirubin: report of two cases

  http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1130-01082016000400010

  Gilbert’s syndrome is caused by a mutation in the proximal promoter of the UGT1A1 gene. […] Gilbert syndrome is characterized by elevated serum bilirubin, specifically unconjugated bilirubin due to a deficiency of bilirubin glucoronidation. […] Indirect hyperbilirubinemia is produced by a defect in the promoter region of the gene that encodes the enzyme responsible of this action, the uridine diphosphoglucoronate-glucoronosyltransferase 1A1(UGT1A1). […] Ordinary genetic test describes a dinucleotide insertion within the TATA box of the promoter region of the UGT1A1 gene. […] This defect is also known as UGT1A1*28. […] Gilbert syndrome does not cause progressive liver damage, or histological changes, it does not lead to hepatic morbidity, and no further treatment or follow up is recommended. […] A complete workup, including genetic testing may be necessary in some unusual cases.

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