Non tumoral hyperserotoninaemia responsive to octreotide due to dual polymorphism in UGT1A1 and UGT1A6
| Autor: | John G. Yovos, Anna Maladaki, Theoni Tranga, Maria P. Yavropoulou, Stelios Ventis, Kalliopi Kotsa |
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| Rok vydání: | 2012 |
| Předmět: |
Adult
UGT1A6 Serotonin medicine.medical_specialty Antineoplastic Agents Hormonal Bilirubin Endocrinology Diabetes and Metabolism Glucuronidation Octreotide Drug Administration Schedule chemistry.chemical_compound Molecular genetics Internal medicine medicine Humans Genetic Predisposition to Disease Glucuronosyltransferase Polymorphism Genetic business.industry Metabolic disorder General Medicine medicine.disease Endocrinology chemistry Female Gilbert Disease business Carcinoid syndrome medicine.drug |
| Zdroj: | Hormones. 11:104-108 |
| ISSN: | 2520-8721 1109-3099 |
| DOI: | 10.1007/bf03401544 |
| Popis: | Gilbert's syndrome is a common inherited metabolic disorder, caused by genetic aberration in the enzyme UDP-glucuronosyl-transferase 1A1 that leads to reduced glucuronidation of bilirubin. Recent advances in molecular genetics have frequently reported the concurrence of dual genetic polymorphisms in UDP glucuronosyl-transferases 1A6 and 1A1 in patients with Gilbert's syndrome, leading to defective glucuronidation of bilirubin, as well as several other endogenous and exogenous substrates, such as serotonin. We present a case of Gilbert's syndrome with severe persistent hyperserotoninaemia, mimicking carcinoid syndrome, due to dual polymorphisms in UDP-glucuronosyl-transferases 1A1 and 1A6. The patient was treated with a long-acting somatostatin analogue (octreotide) for 8 months, resulting in a significant reduction in serum serotonin levels and immediate relief of the symptomatology, followed by a long-term remission. The frequent occurrence of hyperserotoninaemia in Gilbert's syndrome may contribute, at least partly, to the nonspecific symptomatology commonly seen in these patients and should be promptly evaluated. Hormones (Athens) |
| Databáze: | OpenAIRE |
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