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Adult onset citrullinemia type II : Clinical features in infancy

Research Project

Project/Area Number 13670804
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionTOTTORI UNIVERSITY

Principal Investigator

NAGATA Ikuo  Tottori University, Faculty of Medicine, Lecturer, 医学部, 講師 (50252846)

Co-Investigator(Kenkyū-buntansha) IITSUKA Tohiyuki  Tottori University, Research Associate, 医学部, 助手 (70271046)
OHURA Toshihiro  Tohoku University, School of Medicine, Ass.Professor, 大学院・医学系研究科, 助教授 (10176828)
KOBAYASHI Keiko  Kagoshima University, Faculty of Medicine, Professor, 医学部, 教授 (70108869)
Project Period (FY) 2001 – 2002
Project Status Completed (Fiscal Year 2002)
Budget Amount *help
¥2,500,000 (Direct Cost: ¥2,500,000)
Fiscal Year 2002: ¥1,200,000 (Direct Cost: ¥1,200,000)
Fiscal Year 2001: ¥1,300,000 (Direct Cost: ¥1,300,000)
KeywordsCtrullinemia / NICCD / citrin / neonatal hepatitis / gene mutation / cholestasis
Research Abstract

Gene diagnosis of adult-onset citrullinemia Type II (CTLN2) utilising the gene (SLC25A13) has become currently available. Recently, abnormality of the same gene (SLC25A13) has been revealed to exist in some cases of infants with neonatal hepatitis. The clinical feature of cases with this gene abnormality was known and thus led to establishment of a new disease concept of neonatal intra-hepatic cholestasis caused by citrin deficiency (NICCD) (J Pediatr, 2001) These clinical feature is characterized by cholestasis, vitamin K deficiency, poor body weight gain and various hyperaminoacidemia, etc. In addition, there are some cases complicated with ketotic hypoglycemia and spasm that are suspected to be related with NICCD. There are many cases of abnormal coagulation results with vitamin K deficiency. They are assumed to be caused by inhibited absorption of fat-soluble vitamins due to cholestasis and mitochondrial dysfunction. Histological examinations of the hepatic tissues demonshated find … More ings of cholestasis, fatty-liver and liver fibrosis. Concerning treatment of neonatal hepatitis, as well as an alimentary therapy including a special milk containing medium chain fatty acids, limited protein intake and a specific milk for abnormal amino and metabolism, supplementation of fat-soluble vitamins and administration of a cholagogic are found to be effective. This provides remission of the signs and the laboratory test changes in most of the diseased children by 2 year's old. Follow-up period has been prolonged with the progress of the study. Some cases where the abnormalities of clinical signs were not confirmed until up to 7 years old However, the long term prognosis remains to be seen. In addition, liver biopsy of the patients at an age of one years old, showed almost remission of the findings of cholestasis, fatty-liver and liver fibrosis observed in early infancy and recovering the findings of the liver fibrosis by an age of 3 years old. We consider that it is needed to further clinical course including a long term prognosis, clinical signs of the relatives and the treatment strategies Less

Report

(3 results)
  • 2002 Annual Research Report   Final Research Report Summary
  • 2001 Annual Research Report
  • Research Products

    (11 results)

All Other

All Publications (11 results)

  • [Publications] 長田郁夫, 田澤雄作: "新生児肝炎"小児科診療. 65. 435-437 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] 長田郁夫: "小児期肝疾患の臨床と問題点"島根県小児科医会会報. 14. 12-15 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Tazawa Y, Kobayashi K, Nagata I, et al.: "Infantile cholestatic jaundice associated with adult-onset type II citrullinemia."J Pediatr. 138. 735-740 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Yuan ZR, Okaniwa M, Nagata I, et al.: "The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome"Clin Genet. 59. 330-337 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] 長田郁夫, 田澤雄作: "新生児肝炎"小児科診療. 65. 435-437 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] 長田郁夫: "小児期肝疾患の臨床と問題点"島根県小児科医会会報. 14. 12-15 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] 友政 剛, 長田郁夫, 他: "本邦における小児炎症性腸疾患の内科的治療の現状"日本小児栄養消化器肝臓学会雑誌. 16. 3-9 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] Yuan ZR, Okaniwa M, Nagata I, et al.: "The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome"Clin Genet. 59. 330-337 (2001)

    • Related Report
      2002 Annual Research Report
  • [Publications] Tazawa Y, Kobayashi K, et al.: "Infantile cholestatic jaundice associated with adult-onset type II citrullinemia"J Pediatr. 138. 735-740 (2001)

    • Related Report
      2002 Annual Research Report
  • [Publications] Tazawa Y, et al.: "Infantile cholestatic jaundice associated with adult-onset type II citrullinemia"J Pediatr.. 138(5). 735-740 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] Yuan ZR, et al.: "The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome"Clin Genet.. 59(5). 330-337 (2001)

    • Related Report
      2001 Annual Research Report

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Published: 2001-04-01   Modified: 2016-04-21  

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