無症狀之高膽紅素血症：吉伯特氏症

顏秉辰¹　吳昭賢²　劉盈銘¹
 

吉伯特氏症為常見的一種體染色體遺傳疾病，台灣盛行率約1%，男性比女性常見。此疾病除少數病人有陣發性輕微黃疸、容易疲累及腹部不適的症狀外，其餘無任何特異性症狀，且此疾病為一良性疾病，常在健康體檢中測出高膽紅素而意外發現，若需確診需做基因檢測。由於職業安全衛生法的規定，越來越多企業願意幫員工做例行性的年度健康檢查，本文報告一名34歲男性，個案平時自覺沒有明顯症狀，只是偶爾會覺得疲累，不過他認為應該是與輪班工作造成的睡眠問題有關，但因員工健康體檢有高膽紅素血症來院尋求醫療建議及進一步檢查，經抽血、驗尿及腹部超音波檢查後排除因肝臟疾病、膽汁鬱積或溶血造成高膽紅素的疾病後，懷疑是吉伯特氏症，後續經轉診醫學中心檢測基因確診為吉伯特氏症。本文以文獻回顧探討吉伯特氏症的流行病學、致病原因、臨床表現、藥物交互作用、診斷方式、治療及預後。

（台灣家醫誌2017; 27: 177-82） DOI: 10.3966/168232812017092703005

關鍵詞：吉伯特氏症，無症狀高膽紅素血症

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¹台南新樓醫院家庭醫學科、²台南新樓醫院腸胃科
受理日期：106年1月3日　　修改日期：106年2月8日　　同意刊登：106年2月9日
通訊作者：劉盈銘　　　　 通訊地址：台南市東區東門路一段57號　台南新樓醫院家庭醫學科

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Asymptomatic Hyperbilirubinemia: Gilbert's Syndrome

Bing-Chen Yen¹, Chao-Shien Wu² and Ying-Ming Liu¹
 

Gilbert's syndrome, a common recessive autosomal hereditary disease, reports a prevalence around 1% in Taiwan, where it occurs more often in males than in females. Except for periodic jaundice, fatigue, and mild abdominal discomfort in rare cases, Gilbert’s syndrome in most patients is asymptomatic, and the syndrome is usually identified accidentally when hyperbilirubinemia is found in health examination. To comply with the occupational safety and health regulations in Taiwan, more and more companies arrange routine health examination for their employees. We report a 34-year-old man whose asymptomatic hyperbilirubinemia was noted during a health examination. He had little fatigue but he thought that was caused by shift work and short sleep duration. Due to hyperbilirubinemia, he was transferred to our department. After survey of the hyperbilirubinemia including blood test, urine analysis and abdominal sonography were done, Gilbert's syndrome was highly suspected. Gilbert's syndrome was highly suspected. Then the gene test was done and  Gilbert's syndrome was diagnosed. The article will review Gilbert's syndrome's the epidemiology, etiology, clinical manifestation, assessment, treatment and prognosis.

(Taiwan J Fam Med 2017; 27: 177-82) DOI: 10.3966/168232812017092703005

Key words: asymptomatic hyperbilirubinemia, Gilbert's syndrome

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¹Departments of Family Medicine, ²Gastroenterology, Sin-Lau Hospital, Tainan, Taiwan.
Received: January 3, 2017; Revised: February 8, 2017; Accepted: February 9, 2017.

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