Existence of gilbert's syndrome and hepatitis at the same time

Gilbert`s syndrome (constitutional hepatic disfunction, familial nonhemolitic jaundice and idiopatic unconjugated hyperbilirubinemia) is inherited as an autosomal recessive trait, characterized by the liver disorders and the absence of the indicators of hemolysis, rare clinic syndrome which appears with unconjugated bilirubinemia. The cause of this disease is mutation of uridine-di-phosphate glucuronosyltransferase

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HEREDITARY UNCONJUGATED HYPERBILIRUBINEMIA (COMBINATION OF CRIGLER-NAJJAR SYNDROME TYPE II AND GILBERT'S SYNDROME)

Hepatology and Gastroenterology ◽

10.25298/2616-5546-2021-5-1-79-84 ◽

2021 ◽

Vol 5 (1) ◽

pp. 79-84

Author(s):

L. Yu. Ilchenko ◽

◽

I. G. Fedorov ◽

G. G. Totolyan ◽

A. G. Tsvetkova ◽

...

Keyword(s):

Autosomal Recessive ◽

Molecular Genetic ◽

Unconjugated Bilirubin ◽

Patient Specific ◽

Type I ◽

Syndrome Type ◽

Type Ii ◽

Unconjugated Hyperbilirubinemia ◽

Gilbert’S Syndrome ◽

Gilbert's Syndrome

Background. Enzymopathic jaundices are manifested by intermittent hyperbilirubinemia, no changes in the structure of the liver, no hemolysis, Rh-conflict as well as cholestasis being noted. These jaundices include Crigler-Najjar syndrome type I, Crigler-Najjar syndrome type II and Gilbert's syndrome. They are characterized by an autosomal recessive inheritance due to the presence of mutations and polymorphisms in uridine 5'-diphosphate-glucuronosyltransferase gene (UGT1A1) leading to a decrease of the enzyme activity or to its complete loss. Objective. To demonstrate the peculiarities of diagnosis and treatment of a rare case of hereditary unconjugated hyperbilirubinemia - a combination of Crigler-Najjar syndrome type II and Gilbert's syndrome. Material and methods. Clinical observation of a patient G. aged 19, who was examined and treated at the Department of gastroenterology of a multidisciplinary hospital in Moscow in January 2021. Results. The patient G. has had icteric sclerae and skin since birth; he occasionally suffers from easy fatigability and general malaise. Physical examination revealed no changes (except for icteric discoloration). An increase in unconjugated bilirubin up to 270 μmol/L (median - 170 μmol/L) was detected. The molecular genetic study of UGT1A1 gene identified mutations in exon 4 Val378Asp (2002) and Arg108Cys as well as polymorphism 6/7TA in the promoter region, confirming the diagnosis of autosomal recessive inherited disease – a combination of Crigler Najjar syndrome type II and Gilbert's syndrome (heterozygous state), complicated by the development of hepatic encephalopathy stage 2. There was noted a significant decrease in unconjugated bilirubin up to 170.5 μmol/L, as well as improvement in general condition – reduced fatigue and weakness during the treatment with microsomal enzyme inducer (phenobarbital) and hyperammonemia corrector (ornithine aspartate). Conclusions. The use of molecular genetic analysis allows tailoring strategies for patient-specific disease diagnostics, treatment and prevention. The preservation of quality of life within satisfactory level is achieved through elimination of adverse effects provoking the development of this syndrome and through control of risk factors.

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Dwarfism in Tibetan Terrier dogs with an LHX3 mutation

Journal of Veterinary Diagnostic Investigation ◽

10.1177/10406387211007526 ◽

2021 ◽

pp. 104063872110075

Author(s):

Tuddow Thaiwong ◽

Sarah Corner ◽

Stacey La Forge ◽

Matti Kiupel

Keyword(s):

Hair Loss ◽

Autosomal Recessive ◽

Early Death ◽

Deletion Mutation ◽

Recessive Trait ◽

Autosomal Recessive Trait ◽

German Shepherd ◽

Hair Coat ◽

Pituitary Dwarfism ◽

Autosomal Recessive Manner

Canine pituitary dwarfism in German Shepherd and related dog breeds has been reported to be associated with a 7-bp deletion mutation in intron 5 of the LHX3 gene. This mutation is transmitted as an autosomal recessive trait that results in dwarf dogs with significantly smaller stature and abnormal haircoat, and potentially early death. Phenotypically, affected adult dogs are proportionally dwarfs. These dwarfs also have a soft, woolly puppy coat that fails to transition into the typical adult hair coat, and marked hair loss occurs in some dogs. We report a similar manifestation of dwarfism in Tibetan Terriers with the same LHX3 mutation. Dwarf Tibetan Terrier puppies were born physically normal but failed to gain weight or to grow at the same rate as their normal littermates. The 7-bp deletion mutation of the LHX3 gene was identified in both alleles of 3 Tibetan Terrier dwarfs from 3 litters, which were biologically related. All parents of these dogs are carriers, confirming transmission of dwarfism in an autosomal recessive manner. Recognition and detection of this mutation will help in guiding future breeding plans to eventually eliminate this trait from Tibetan Terriers.

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Trimethylaminuria (‘fish-odour syndrome’): A study of an affected family

Clinical Science ◽

10.1042/cs0740231 ◽

1988 ◽

Vol 74 (3) ◽

pp. 231-236 ◽

Cited By ~ 35

Author(s):

Makram Al-Waiz ◽

Riad Ayesh ◽

Stephen C. Mitchell ◽

Jeffrey R. Idle ◽

Robert L. Smith

Keyword(s):

Oral Administration ◽

Inborn Error ◽

Autosomal Recessive ◽

Oral Challenge ◽

Recessive Trait ◽

Autosomal Recessive Trait ◽

Challenge Dose ◽

The Third ◽

The Family ◽

Body Odour

1. Beginning with a single propositus, who had been previously diagnosed at the age of 10 as suffering from trimethylaminuria (fish-odour syndrome), both her parents and two sisters were investigated biochemically with respect to their ability to N-oxidize trimethylamine (TMA), both when derived from the diet and when administered exogenously. 2. Both the propositus and a second sister were markedly deficient in their ability to N-oxidize TMA, both when derived from the diet and when given as such; furthermore, both siblings readily developed the symptoms of fish-odour syndrome as characterized by a strong objectionable breath and body odour shortly after the oral administration of TMA (300 mg). 3. At this dose level of TMA, neither of the parents nor the third sister showed any evidence of impaired N-oxidation ability nor did they experience any ‘fish-odour’ symptoms. 4. With an oral challenge of 600 mg of TMA, both the parents showed a clear impairment of N-oxidation capacity which was not seen in six healthy unrelated volunteers. Both parents experienced a fish-odour syndrome at this level of TMA challenge. 5. The family data support the hypothesis that trimethylaminuria is an inborn error in the ability to N-oxidize TMA which is inherited as an autosomal recessive trait. Furthermore, experience with this family suggests that an oral challenge dose with 600 mg of TMA may be used to identify carriers of the condition.

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Arrest of human oocytes during meiosis I in two sisters of consanguineous parents: first evidence for an autosomal recessive trait in human infertility: Case report

Human Reproduction ◽

10.1093/humrep/17.10.2556 ◽

2002 ◽

Vol 17 (10) ◽

pp. 2556-2559 ◽

Cited By ~ 20

Author(s):

H. Schmiady

Keyword(s):

Case Report ◽

Autosomal Recessive ◽

Recessive Trait ◽

Autosomal Recessive Trait ◽

Human Oocytes ◽

Meiosis I

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Diagnosis and treatment of phenobarbital in patients with Gilbert's syndrome

Kazan medical journal ◽

10.17816/kazmj61649 ◽

1985 ◽

Vol 66 (3) ◽

pp. 212-215

Author(s):

M. M. Eseleev ◽

P. G. Scepuro

Keyword(s):

Diagnosis And Treatment ◽

Unconjugated Hyperbilirubinemia ◽

Gilbert’S Syndrome ◽

Gilbert's Syndrome ◽

Medical Network

Until now, the diagnosis of unconjugated hyperbilirubinemia presents certain difficulties, which is to a certain extent related to the lack of awareness among doctors of a wide medical network [1, 2, 4, 8].

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Gilbert’s syndrome - a frequent cause of unconjugated hyperbilirubinemia in children after orthotopic liver transplantation

Pediatric Transplantation ◽

10.1111/j.1399-3046.2012.01662.x ◽

2012 ◽

Vol 16 (2) ◽

pp. 201-204 ◽

Cited By ~ 6

Author(s):

Simone Kathemann ◽

Elke Lainka ◽

Hideo A. Baba ◽

Peter F. Hoyer ◽

Patrick Gerner

Keyword(s):

Liver Transplantation ◽

Orthotopic Liver Transplantation ◽

Unconjugated Hyperbilirubinemia ◽

Gilbert’S Syndrome ◽

Gilbert's Syndrome

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Hereditary C2 deficiency: Genetic studies and association with the HL-A system.

Journal of Experimental Medicine ◽

10.1084/jem.141.6.1464 ◽

1975 ◽

Vol 141 (6) ◽

pp. 1464-1469 ◽

Cited By ~ 56

Author(s):

N K Day ◽

R L'Esperance ◽

R A Good ◽

A F Michael ◽

J A Hansen ◽

...

Keyword(s):

Autosomal Recessive ◽

Genetic Factors ◽

Recessive Trait ◽

Autosomal Recessive Trait ◽

Systemic Lupus ◽

Genetic Studies ◽

Large Pedigree ◽

Deficient Patient ◽

Heterozygous Carriers ◽

C2 Deficiency

Herediatary C2-deficiency has been shown to be transmitted asn an autosomal recessive characteristic. Recent evidence indicates that some genetic factors involved in the control of the complement (C) system in both man and mice are governed by genes localized within the major histocompatibility regionmthis study describes a large pedigree of the paternal family of a C2-deficient patient with systemic lupus erythematosusl It is shown that this condition is transmitted as an autosomal recessive trait, the heterozygous carriers having approximately half normal levels of C2. Furthermore, this trait was shown to be inherited in close linkage with an infrequent HL-A typw, 2,4A2. The maternal, C2-defective chromosome was shown to be transmitted by HL-AW10, W18 haplotypemthis same haplotype was described in a similar study by Fu et al. (6) to be associated with C2 deficiencymfinally, a third haplotype HL-A2,W18 carrying a defective C2 gene was demonstrated in a part of this pedigree.

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