| Item type |
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 |
Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan |
|
言語 |
en |
| 言語 |
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|
言語 |
eng |
| キーワード |
|
|
主題 |
hemodialysis, 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 |
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
Yoko, Nakajima
Yoichi, Wada
Narutaka, Mochizuki
Kei, Murayama
Tomoko, Lee
Hiroshi, Mochizuki
Yoriko, Watanabe
Reiko, Horikawa
Mureo, Kasahara
Kimitoshi, Nakamura
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| 内容記述 |
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内容記述 |
Urea cycle disorders (UCDs) are inherited metabolic disorders with impaired nitrogen detoxification caused by defects in urea cycle enzymes. They often manifest with hyperammonemic attacks resulting in significant morbidity or death. We performed a nationwide questionnaire-based study between January 2000 and March 2018 to document all UCDs in Japan, including diagnoses, treatments, and outcomes. A total of 229 patients with UCDs were enrolled in this study: 73 males and 53 females with ornithine transcarbamylase deficiency (OTCD), 33 patients with carbamoylphosphate synthetase 1 deficiency, 48 with argininosuccinate synthetase deficiency, 14 with argininosuccinate lyase deficiency, and 8 with arginase deficiency. Survival rates at 20 years of age of male and female patients with late-onset OTCD were 100% and 97.7%, respectively. Blood ammonia levels and time of onset had a significant impact on the neurodevelopmental outcome (P < .001 and P = .028, respectively). Hemodialysis and liver transplantation did not prevent poor neurodevelopmental outcomes. While treatment including medication, hemodialysis, and liver transplantation may aid in decreasing blood ammonia and/or preventing severe hyperammonemia, a blood ammonia level ≥ 360 μmol/L was found to be a significant indicator for a poor neurodevelopmental outcome. In conclusion, although current therapy for UCDs has advanced and helped saving lives, patients with blood ammonia levels ≥ 360 μmol/L at onset often have impaired neurodevelopmental outcomes. Novel neuroprotective measures should therefore be developed to achieve better neurodevelopmental outcomes in these patients. |
| bibliographic_information |
en : Journal of Inherited Metabolic Disease
巻 44,
号 4,
p. 826-837,
発行年 2021-07
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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.12384 |
| 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. Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan. Journal of Inherited Metabolic Disease. 2021; 44(4): 826-837.], which has been published in final form at [https://doi.org/10.1002/jimd.12384]. 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 |
| 出版者 |
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出版者 |
John Wiley and Sons |
|
言語 |
en |
10.1002_jimd.12384.pdf (401 KB)
