Icterus intermittens juvenilis Meulengracht; Gilbert-Syndrom; Morbus Meulengracht; Gilbert-Meulengracht-Syndrom; E80.6
Synonym(s)
Gilbert-Meulengracht disease; Icterus intermittens juvenilis
HistoryThis section has been translated automatically.
Gilbert, 1900; Meulengracht, 1937
DefinitionThis section has been translated automatically.
Common familial hyperbilirubin syndrome with intermittent benign familial constitutional hyperbilirubinemia(jaundice).
EtiopathogenesisThis section has been translated automatically.
Autosomal-dominant inherited deficiency of UPD-glucuronyltransferase. Mutation in the UDPGT1A1 gene, usually additional nucleotide pair in the promoter region of the first exon (TATA7 instead of TATA6).
ManifestationThis section has been translated automatically.
Age of manifestation usually around the age of 20.
Clinical featuresThis section has been translated automatically.
- Skin: Intermittent (scleral) icterus, tendency to develop melanocytic nevi, xanthelasma and nevi flammei around the eyelids.
- General: mostly asymptomatic. Occasionally constipation, headache, fatigue, dyspeptic complaints.
LaboratoryThis section has been translated automatically.
The unconjugated (indirect) bilirubin is elevated, the transaminases are usually normal.
TherapyThis section has been translated automatically.
Not required.
Progression/forecastThis section has been translated automatically.
Cheap.
LiteratureThis section has been translated automatically.
- Gilbert A, Castaigne MJ, Lereboullet P (1900) De l'ictère familial. Contribution à l'étude de la diathèse biliaire. Bull de la Société des médecins des hôpitaux de Lyon 17: 948-959
- Gilbert A, Lereboullet P (1901) La cholémie simple familiale. Semaine médicale (Paris) 21: 241-243
- Meulengracht E (1939) Icterus intermittens juvenilis (chronic intermittent juvenile subicterus). Klin Wochenschr (Berlin) 45: 118-121