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Case Studies | Medicine | India | Volume 13 Issue 10, October 2024 | Popularity: 4.9 / 10
Facing the Odds: A Teen's Struggle with Chronic Hyperbilirubinemia and Frequent Rejections in State & National Sports Competitions
Dr. Heti Mistry, Rudra Pankajkumar Trivedi, Aditya Jain, Dhvani Pankajkumar Trivedi
Abstract: This case report presents a comprehensive overview of a case involving a 15 years old male patient with Gilbert syndrome and a history of undiagnosed intermittent unconjugated hyperbilirubinemia; who was often asymptomatic or sometimes experience episodes of mild jaundice, which worsens during intercurrent illness or stress. Jaundice is usually manifested as yellowish discoloration of the skin and sclera due to unconjugated bilirubin levels. The patient had no other complaints. [1] Extensive investigations, including blood tests, imaging studies revealed increased indirect and direct bilirubin level with absence of hepatocellular disease or any other abnormality in liver or spleen. The consistent elevated levels of bilirubin levels may direct us towards GS but it is also very important to exclude the other similar syndromes. Differential diagnosis of GS involves excluding other inherited and acquired conditions that manifest with similar clinical features such Criggler - Najar syndrome (type 1 and 2), Dubin Johnson syndrome (ABCC2), and hepatic conditions like Wilson?s disease (ATP7B) and Rotor syndrome (SLCO1B1 and SLCO1B3). [2]Molecular diagnosis was very essential for distinguishing Gilbert syndrome from other hepatic disorders presenting with unconjugated hyperbilirubinemia. Molecular diagnosis was done with UGT1A1 Gene Polymorphism (Nucleotide TA Repeat) and Fragment Analysis; and the result showed 7/7 TA repeats [Genotype Nomenclature ? UGT1A1*28/28] which demonstrates Reduced Glucuronidation activity with significant risk for grade 4 neutropenia or severe diarrhea following Irinotecan treatment. By the confirmation of this syndrome, we get to know that the Molecular basis of each syndrome facilitates accurate diagnosis and appropriate management. [3]
Keywords: Gilbert Syndrome, Unconjugated Hyperbilirubinemia, Gene mutation
Edition: Volume 13 Issue 10, October 2024
Pages: 638 - 640
DOI: https://www.doi.org/10.21275/MR241006165826
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