Repository logo
  • English
  • 中文
Log In
Have you forgotten your password?
  1. Home
  2. College of Medicine / 醫學院
  3. School of Medicine / 醫學系
  4. Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency
 
  • Details

Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency

Journal
Journal of Pediatric Gastroenterology and Nutrition
Journal Volume
47
Journal Issue
2
Pages
187-192
Date Issued
2008
Author(s)
Chen H.-W.
HUEY-LING CHEN  
YEN-HSUAN NI  
NI-CHUNG LEE  
YIN-HSIU CHIEN  
WUH-LIANG HWU  
Huang Y.-T.
Chiu P.-C.
MEI-HWEI CHANG  
DOI
10.1097/MPG.0b013e318162d96d
URI
https://www.scopus.com/inward/record.uri?eid=2-s2.0-56049093028&doi=10.1097%2fMPG.0b013e318162d96d&partnerID=40&md5=04f00266d7171541f6b426ace4863159
https://scholars.lib.ntu.edu.tw/handle/123456789/537043
Abstract
OBJECTIVES: To identify facial and biochemical characteristics as early clinical features of neonatal intrahepatic cholestasis due to citrin deficiency (NICCD). PATIENTS AND METHODS: Ten patients with diagnoses of NICCD by SLC25A13 mutation analysis in Taiwan were recruited. A Chubby Index was developed for objective measurement of their facial characteristics. Liver function profiles were analyzed and compared with data on neonatal hepatitis and biliary atresia. RESULTS: Chubby face was observed in early infancy in all 5 patients whose serial photographs were taken. A significant difference in the Chubby Index was seen between NICCD infants and healthy infants (1.331 ± 0.07 vs 1.068 ± 0.059; P < 0.05). NICCD is characterized by an aspartate aminotransferase alanine aminotransferase ratio of 2 or greater, a direct bilirubin total bilirubin ratio under 0.67, and a standard deviation score for ±-fetoprotein of 4 or greater, with respect to neonatal hepatitis and biliary atresia. Although chubby face, abnormal liver function profiles, and multiple amino acidemia gradually disappeared after age 1 year, an increase in hepatic echogenicity was observed in most patients in long-term follow-up. CONCLUSIONS: Our Chubby Index is an informative measurement of the facial characteristics of infants with NICCD. The chubby face features, along with an aspartate aminotransferase alanine aminotransferase ratio of 2 or greater, a direct bilirubin total bilirubin ratio under 0.67, and a standard deviation score for ±-fetoprotein of 4 or greater, may serve as useful clinical indicators for diagnosing NICCD early in infancy. ? 2008 by Lippincott Williams & Wilkins.
SDGs

[SDGs]SDG3

Other Subjects
alanine aminotransferase; alpha fetoprotein; aspartate aminotransferase; bilirubin; bilirubin glucuronide; alpha fetoprotein; bilirubin; calcium binding protein; carrier protein; eriodictyol 7 o glucoside; mitochondrial protein; organic anion transporter; SLC25A13 protein, human; aminoacidemia; article; bile duct atresia; chemical parameters; citrin deficiency; clinical article; clinical feature; controlled study; early diagnosis; face profile; gene mutation; human; infancy; intrahepatic cholestasis; liver function; mutational analysis; newborn; newborn disease; newborn hepatitis; priority journal; protein deficiency; Asian; blood; blood analysis; case control study; differential diagnosis; face; female; genetics; infant; liver function test; male; methodology; mutation; pathology; Taiwan; alpha-Fetoproteins; Asian Continental Ancestry Group; Bilirubin; Blood Chemical Analysis; Calcium-Binding Proteins; Case-Control Studies; Cholestasis, Intrahepatic; Diagnosis, Differential; Face; Female; Humans; Infant; Infant, Newborn; Liver Function Tests; Male; Membrane Transport Proteins; Mitochondrial Proteins; Mutation; Organic Anion Transporters; Taiwan
Type
journal article

臺大位居世界頂尖大學之列,為永久珍藏及向國際展現本校豐碩的研究成果及學術能量,圖書館整合機構典藏(NTUR)與學術庫(AH)不同功能平台,成為臺大學術典藏NTU scholars。期能整合研究能量、促進交流合作、保存學術產出、推廣研究成果。

To permanently archive and promote researcher profiles and scholarly works, Library integrates the services of “NTU Repository” with “Academic Hub” to form NTU Scholars.

總館學科館員 (Main Library)
醫學圖書館學科館員 (Medical Library)
社會科學院辜振甫紀念圖書館學科館員 (Social Sciences Library)

開放取用是從使用者角度提升資訊取用性的社會運動,應用在學術研究上是透過將研究著作公開供使用者自由取閱,以促進學術傳播及因應期刊訂購費用逐年攀升。同時可加速研究發展、提升研究影響力,NTU Scholars即為本校的開放取用典藏(OA Archive)平台。(點選深入了解OA)

  • 請確認所上傳的全文是原創的內容,若該文件包含部分內容的版權非匯入者所有,或由第三方贊助與合作完成,請確認該版權所有者及第三方同意提供此授權。
    Please represent that the submission is your original work, and that you have the right to grant the rights to upload.
  • 若欲上傳已出版的全文電子檔,可使用Open policy finder網站查詢,以確認出版單位之版權政策。
    Please use Open policy finder to find a summary of permissions that are normally given as part of each publisher's copyright transfer agreement.
  • 網站簡介 (Quickstart Guide)
  • 使用手冊 (Instruction Manual)
  • 線上預約服務 (Booking Service)
  • 方案一:臺灣大學計算機中心帳號登入
    (With C&INC Email Account)
  • 方案二:ORCID帳號登入 (With ORCID)
  • 方案一:定期更新ORCID者,以ID匯入 (Search for identifier (ORCID))
  • 方案二:自行建檔 (Default mode Submission)
  • 方案三:學科館員協助匯入 (Email worklist to subject librarians)

Built with DSpace-CRIS software - Extension maintained and optimized by 4Science