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delayed diagnosis of crigler-najjar disease: a case report of a 17-year-old man with progressive jaundice
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نویسنده
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beigvand pedram ,moradi niloofar ,ramezani sepehr ,firuzpour faezeh
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منبع
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case reports in clinical practice - 2024 - دوره : 9 - شماره : 3 - صفحه:114 -118
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چکیده
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Crigler-najjar syndrome type ii is a metabolic disorder stemming from mutations in the ugt1a1 gene, resulting in heightened levels of unconjugated bilirubin. here is a case report of a 17-year-old male patient with minor thalassemia and g6pd deficiency who was referred due to worsening jaundice. he has had a history of lifelong jaundice, which has intensified over the past year and a half. subsequently, the patient was diagnosed with crigler-najjar type ii based on his medical history, clinical examination, and laboratory findings. furthermore, the patient’s positive response to phenobarbital treatment confirmed the diagnosis. consequently, it is imperative to consider criglernajjar syndrome in cases of unexplained unconjugated hyperbilirubinemia.
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کلیدواژه
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crigler-najjar syndrome type ii ,hyperbilirubinemia ,ugt1a1 gene
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آدرس
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babol university of medical sciences and health services, iran, babol university of medical sciences and health services, iran, babol university of medical sciences, student research committee, faculty of medicine, iran, babol university of medical sciences, student research committee, usern office, iran
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پست الکترونیکی
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faezeh.1997@gmail.com
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Authors
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