Vaccine Research and Immunology

Biography

Biography: Rudrabatla Raghuvamshi

Abstract

Introduction: Gilbert's syndrome is the benign condition, characterized by recurrent episodes of asymptomatic mild unconjugated hyperbilirubinemia. It is presented mostly in the adolescent period. The episodes are mostly caused by intercurrent illness, fasting or due to stress. Almost all the persons having Gilbert's syndrome have decreased level of UDP-glucuronosyltransferase activity that decreases the uptake of bilirubin by the liver and bilirubin conjugation. This case is reported because of its rarity.

Case report: A 14 year old girl, resident of Tamaka, Kolar, came with complaints of yellowish discoloration of eyes and skin from four days. There were no other complaints. Urine colour was normal. On physical examination, mild jaundice is present with yellowish discoloration of sclera and face, but no other abnormal finding was evident. Vital parameters and anthropometry measures were within normal limits. Systemic examination was normal, with no organomegaly. Investigations done revealed normal haemoglobin total and differential counts, and also platelet level. Reticulocyte count and peripheral blood picture showed normal findings, without any hemolysis evidence. Liver function tests done were also normal including HBsAg and anti-HCV, but episodes of unconjugated hyperbilirubinemia was present on various occasions. Urine routine, chest radiography and USG abdomen done were also normal. She had similar episodes in the past with frequency of once in three months from last two years. History of similar complaints was present in the father and her father’s maternal grandmother (expired). There is h/o consanguineous marriage in the family from past six generations. In view of benign unconjugated hyperbilirubinemia, adolescent presentation and also similar complaints in the father and maternal great grandmother and h/o consanguinity from six generations and also having all the investigations within normal limit, Gilberts syndrome was suspected for which genetic analysis was done for the patient and her parents after obtaining consent ,which came homozygous for A(TA)7TAA allele in the promoter region of UGT1A1 gene which implies that they were affected with Gilbert syndrome.

Conclusion: Gilbert syndrome which is the best predicted possibilities can be confirmed by PCR, which is a novel and rapid method. Absence of Gilbert genotype, implies that person have a harmful cause for their jaundice. The presence of gene cannot exclude liver and hemolytic disease because they can coexist with Gilberts, but other causes are less likely. Patients with Gilbert syndrome can lead a complete normal life style with some small dietary and life style modifications to prevent jaundice episodes.