| アイテムタイプ |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2025-01-09 |
| タイトル |
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タイトル |
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan |
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言語 |
en |
| 言語 |
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言語 |
eng |
| キーワード |
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主題 |
amino acids, hyperammonemia, liver transplantation, long-term survival, neurodevelopmental outcome, urea cycle disorders |
| 資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
journal article |
| アクセス権 |
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アクセス権 |
open access |
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アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 著者 |
Jun, Kido
Shirou, Matsumoto
Johannes, Häberle
Yukihiro, Inomata
Mureo, Kasahara
Seisuke, Sakamoto
Reiko, Horikawa
Akihiro, Tanemura
Hideaki, Okajima
Tatsuya, Suzuki
Kimitoshi, Nakamura
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| 内容記述 |
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内容記述タイプ |
Abstract |
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内容記述 |
Urea cycle disorders (UCDs) are inherited metabolic diseases causing hyperammonemia by defects in urea cycle enzymes or transporters. Liver transplantation (LT) currently is the only curative treatment option until novel therapies become available. We performed a nationwide questionnaire-based study between January 2000 and March 2018 to investigate the effect of LT in patients with UCDs in Japan. A total of 231 patients with UCDs were enrolled in this study. Of them, a total of 78 patients with UCDs (30 male and 16 female ornithine transcarbamylase deficiency (OTCD), 21 carbamoyl phosphate synthetase 1 deficiency (CPSD), 10 argininosuccinate synthetase deficiency (ASSD) and 1 arginase 1 deficiency (ARGD)) had undergone LT. Concerning the maximum blood ammonia levels at the onset time in the transplanted male OTCD (N = 28), female OTCD (N = 15), CPSD (N = 21) and ASSD (N = 10), those were median 634 (IQR: 277-1172), 268 (211-352), 806 (535-1382), and 628 (425-957) μmol/L, respectively. The maximum blood ammonia levels in female OTCD were thus significantly lower than in the other UCDs (all P < .01). LT was effective for long-term survival, prevented recurrent hyperammonemia attack, and lowered baseline blood ammonia levels in patients with UCDs. LT had limited effect for ameliorating neurodevelopmental outcome in patients with severe disease because hyperammonemia at the onset time already had a significant impact on the brain. Patients with ASSD may be more likely to survive without cognitive impairment by receiving early LT despite severe neonatal hyperammonemia ≥ 360 μmol/L. In patients with neonatal onset OTCD or CPSD, there may be additional factors with adverse effects on the brain that are not improved by LT. |
| bibliographic_information |
en : Journal of Inherited Metabolic Disease
巻 44,
号 6,
p. 1311-1322,
発行年 2021-11
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| item_16_source_id_7 |
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収録物識別子 |
0141-8955 |
| item_16_relation_11 |
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関連タイプ |
isVersionOf |
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関連識別子 |
https://doi.org/10.1002/jimd.12415 |
| 権利 |
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権利情報 |
(C) 2021 SSIEM |
| 権利 |
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権利情報 |
This is the peer reviewed version of the following article: [Jun Kido, Shirou Matsumoto, Johannes Häberle, et al. Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan. Journal of Inherited Metabolic Disease. 2021; 44(6): 1311-1322.], which has been published in final form at [https://doi.org/10.1002/jimd.12415]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited. |
| 出版タイプ |
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出版タイプ |
AM |
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出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
| 出版者 |
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出版者 |
John Wiley and Sons |
10.1002_jimd.12415.pdf (415.1 KB)
