Development of icterus gravis in a preterm infant with G71R UGT1A1 polymorphism
| Autor: | Yutaka Suzuki, Muneyuki Tanabu, Takuma Matsuki, Yo-hei Watanabe, Susumu Kanda, Akimune Kaga, Sachiko Saito, Yukimune Ohkubo, Shigeo Kure, Haruo Usuda |
|---|---|
| Jazyk: | angličtina |
| Předmět: |
medicine.medical_specialty
Glucuronosyltransferase Bilirubin TATA box Physiology Jaundice Case Report Gilbert’s syndrome digestive system General Biochemistry Genetics and Molecular Biology chemistry.chemical_compound Exon Internal medicine Uridine diphosphate-glucuronosyltransferase medicine Gilbert Disease Humans Icterus gravis Medicine(all) Polymorphism Genetic biology business.industry Biochemistry Genetics and Molecular Biology(all) Infant Newborn G71R General Medicine Sequence Analysis DNA medicine.disease Gilbert's syndrome Low birth weight Endocrinology Treatment Outcome chemistry Preterm infant biology.protein Female medicine.symptom business Infant Premature |
| Zdroj: | BMC Research Notes |
| ISSN: | 1756-0500 |
| DOI: | 10.1186/1756-0500-6-51 |
| Popis: | Background Uridine diphosphate-glucuronosyltransferase (UGT) gene family is involved in the detoxification of biomaterials and drugs in the liver. Among the UGT gene family members, only UGT1A1 is involved in bilirubin conjugation. As a result, deficient UGT1A1 activity causes jaundice. One disease that is characterized by reduced UGT1A1 activity is Gilbert’s syndrome. Two prevalent UGT1A1 polymorphisms responsible for Gilbert’s syndrome have been identified: G71R in exon 1 and A(TA)7TAA in the TATA box of the promoter region. Recently, the G71R polymorphism has been associated with breastfeeding jaundice and neonatal hyperbilirubinemia in term infants. However, its association with jaundice in very low birth weight infants (VLBWIs) has never been reported. Case presentation The patient was a female born at 28 weeks, 4 days gestation with a birth weight of 1172 g. On day 21, intense yellowing of the skin and eyes was noted, and the patient’s total bilirubin level was 23.7 mg/dL (her direct bilirubin level was 2.1 mg/dL). Therefore, an exchange transfusion was conducted. She had neither blood type incompatibility nor a family history of constitutional jaundice. Metabolic screens for amino and organic acids were negative. No elevation of any of the examined antibody titers was noted, and no evidence of an inflammatory reaction was observed. In addition, no hematological abnormalities were detected. The direct/indirect Coombs test, irregular antibody test and red blood cell antibody dissociation test were all negative, and her thyroid function was normal. We performed sequence analysis of the UGT1A1 gene after the patient’s parents provided written informed consent. Exon 1 of the UGT1 gene on chromosome 2 was analyzed by direct sequencing. A heterozygous substitution from G to A (211G→A: G71R) in base 211 was noted. Conclusion We speculated that this preterm infant with carrying the G71R polymorphism reduced UGT1A1 activity and developed severe jaundice that was likely triggered by factors such as breast feeding and medications. The polymorphism appears at some frequency among VLBWIs, which would necessitate adequate care of severe jaundice even after the acute phase. |
| Databáze: | OpenAIRE |
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