Adult onset citrullinemia type II : Clinical features in infancy
| Project/Area Number | 13670804 |
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | TOTTORI UNIVERSITY |
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Principal Investigator |
NAGATA Ikuo Tottori University, Faculty of Medicine, Lecturer, 医学部, 講師 (50252846)
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| 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)
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| Project Period (FY) |
2001 – 2002
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| Project Status |
Completed(Fiscal Year 2002)
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| 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)
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| Keywords | Ctrullinemia / NICCD / citrin / neonatal hepatitis / gene mutation / cholestasis |
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| 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
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Report
(3results)
Research Products
(11results)
