文献

J-GLOBAL ID：202202276803592081   整理番号：22A0749671

拡大新生児スクリーニングにより同定されたcblC型メチルマロン酸血症における中国人患者の追跡調査【JST・京大機械翻訳】

The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening

著者 (20件)： Ling Shiying (1Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China) ,  Wu Shengnan (2Department of Endocrinology and Metabolism, Henan Key Laboratory of Children’s Genetics and Metabolic Diseases, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, China) ,  Shuai Ruixue (1Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China) ,  Yu Yue (1Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China) ,  Qiu Wenjuan (1Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China) ,  Wei Haiyan (2Department of Endocrinology and Metabolism, Henan Key Laboratory of Children’s Genetics and Metabolic Diseases, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, China) ,  Yang Chiju (3Center of Neonatal Disease Screening, Jining Maternal and Child Health Care Hospital, Jining, China) ,  Xu Peng (3Center of Neonatal Disease Screening, Jining Maternal and Child Health Care Hospital, Jining, China) ,  Zou Hui (4Center of Neonatal Disease Screening, Jinan Maternal and Child Health Care Hospital, Jinan, China) ,  Feng Jizhen (5Center of Neonatal Disease Screening, Shijiazhuang Maternal and Child Health Care Hospital, Shijiazhuang, China) ,  Niu Tingting (6Center of Neonatal Disease Screening, Shandong Maternal and Child Health Care Hospital, Jinan, China) ,  Hu Haili (7Center of Neonatal Disease Screening, Hefei Maternal and Child Health Care Hospital, Hefei, China) ,  Zhang Huiwen (1Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China) ,  Liang Lili (1Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China) ,  Lu Deyun (1Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China) ,  Gong Zhuwen (1Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China) ,  Zhan Xia (1Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China) ,  Ji Wenjun (1Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China) ,  Gu Xuefan (1Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China) ,  Han Lianshu (1Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China)
資料名： Frontiers in Genetics (Web)  (Frontiers in Genetics (Web))
巻： 13  ページ： 805599  発行年： 2022年 
JST資料番号： U7071A  ISSN： 1664-8021  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： スイス (CHE)  言語： 英語 (EN)

抄録/ポイント： 【目的】可変表現型を有する遺伝性障害であるメチルマロン酸血症とホモシスチン尿の併用のcblC型を,中国の複数の新生児スクリーニングセンターにおける新生児スクリーニング(NBS)プログラムに含めた。本研究は,個々のスクリーニングの長期的な臨床的利点を調べることを目的とした。方法:2004年から2020年の間にNBSにより同定されたcblC欠損を確認した乳児の全国,遡及的多施設研究を行なった。538人の患者の大規模コホートを収集し,疾患発症,生化学的代謝物および遺伝子変異を含む,それらの臨床データを詳細に検討し,予後に対する異なる因子を検討した。結果:全患者の長期転帰を評価し,不良転帰の44.6%を示した。無症候性患者への治療の前に既に発症した臨床徴候を有する患者の比較において,知的障害,運動障害,眼合併症,水頭症,および死亡の発生率は有意に異なった(p<0.01)。疾患発症[Odd比(OR)12.39,95%CI5.15~29.81;p=0.000],c.609G>A(OR2.55,95%CI1.49~4.35;p=0.001),およびc.567dupT(OR 2.28,95%CI1.03~5.05;p=0.042)は,特に神経発達悪化に関して不良転帰と独立して関連していた。結論:NBSは,主要な疾患関連事象を避け,早期治療開始を可能にして,cblC欠損の乳児の予後に保護作用を有するようであった。Copyright 2022 The Author(s) All rights reserved. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： *血液 ,  遺伝 ,  遺伝子 ,  代謝産物 ,  表現型 ,  *代謝性疾患 ,  乳児 ,  運動障害 ,  知能障害 ,  予後 ,  母集団 ,  合併症 ,  *新生児スクリーニング ,  遺伝子変異
準シソーラス用語： *メチルマロン酸血症 ,  長期予後 , 【Automatic Indexing@JST】

著者キーワード (5件)： ホモシステイン血症を合併したメチルマロン酸血症 ,  長期転帰 ,  新生児スクリーニング ,  MMACHC遺伝子 ,  タンデム質量分析

分類 (2件)： 代謝異常・栄養性疾患一般  (GD05010J) ,  遺伝的変異  (EC01030Y)

引用文献 (42件)：

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タイトルに関連する用語 (7件)： 拡大 ,  新生児スクリーニング ,  同定 ,  メチルマロン酸血症 ,  中国人 ,  患者 ,  追跡調査