Icterus intermittens juvenilis Meulengracht; Gilbert-Syndrom; Morbus Meulengracht; Gilbert-Meulengracht-Syndrom; E80.6
Synonym(s)
Gilbert-Meulengracht disease; Icterus intermittens juvenilis
History
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Gilbert, 1900; Meulengracht, 1937
Definition
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Common familial hyperbilirubin syndrome with intermittent benign familial constitutional hyperbilirubinemia(jaundice).
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Etiopathogenesis
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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).
Manifestation
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Age of manifestation usually around the age of 20.
Clinic
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- 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.
Laboratory
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The unconjugated (indirect) bilirubin is elevated, the transaminases are usually normal.
Therapy
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Not required.
Progression/forecast
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Cheap.
Literature
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- 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
Recommended articles
Outgoing links (6)
Bilirubin; Hereditary defects of bilirubin metabolism; Icterus; Icterus; Nevus melanocytic (overview); Xanthelasma;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
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Prof. Dr. med. Peter Altmeyer