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Neonatal Metabolic Acidosis in the Neonatal Intensive Care Unit: What Are the Genetic Causes?
Ma, Haiyan; Tang, Zezhong; Xiao, Feifan; Li, Long; Li, Yangfang; Tang, Wenyan; Chen, Liping; Kang, Wenqing; Lu, Yulan; Dong, Xinran; Cheng, Guoqiang; Wang, Laishuan; Lu, Wei; Yang, Lin; Ni, Qi; Peng, Xiaomin; Wang, Yao; Cao, Yun; Wu, Bingbing; Zhou, Wenhao; Zhuang, Deyi; Lin, Guang; Wang, Huijun.
Affiliation
  • Ma H; Department of Neonatology, Zhuhai Women and Children's Hospital, Zhuhai, China.
  • Tang Z; Department of Pediatrics, Peking University First Hospital, Beijing, China.
  • Xiao F; Center for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China.
  • Li L; Department of Neonatology, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China.
  • Li Y; Department of Neonatology, Kunming Children's Hospital, Kunming, China.
  • Tang W; Department of Neonatology, Jiangxi Maternal Hospital, Nanchang, China.
  • Chen L; Department of Neonatology, Jiangxi Provincial Children's Hospital, Nanchang, China.
  • Kang W; Department of Neonatology, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou, China.
  • Lu Y; Center for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China.
  • Dong X; Center for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China.
  • Cheng G; Department of Neonatology, Children's Hospital of Fudan University, Key Laboratory of Neonatal Diseases, Ministry of Health, Shanghai, China.
  • Wang L; Department of Neonatology, Children's Hospital of Fudan University, Key Laboratory of Neonatal Diseases, Ministry of Health, Shanghai, China.
  • Lu W; Department of Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, Shanghai, China.
  • Yang L; Department of Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, Shanghai, China.
  • Ni Q; Center for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China.
  • Peng X; Center for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China.
  • Wang Y; Center for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China.
  • Cao Y; Department of Neonatology, Children's Hospital of Fudan University, Key Laboratory of Neonatal Diseases, Ministry of Health, Shanghai, China.
  • Wu B; Center for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China.
  • Zhou W; Center for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China.
  • Zhuang D; Department of Neonatology, Children's Hospital of Fudan University, Key Laboratory of Neonatal Diseases, Ministry of Health, Shanghai, China.
  • Lin G; Xiamen Key Laboratory of Neonatal Diseases, Xiamen Children's Hospital, Xiamen, China.
  • Wang H; Department of Neonatology, Zhuhai Women and Children's Hospital, Zhuhai, China.
Front Pediatr ; 9: 727301, 2021.
Article de En | MEDLINE | ID: mdl-34733806
Neonatal metabolic acidosis (NMA) is a common problem, particularly in critically ill patients in neonatal intensive care units (NICUs). Complex etiologies and atypical clinical signs make diagnosis difficult; thus, it is crucial to investigate the underlying causes of NMA rapidly and provide disorder-specific therapies. Our study aims to provide an overview of the genetic causes of NMA in patients from NICUs. We performed next-generation sequencing (NGS) on neonates with NMA from January 2016 to December 2019. Clinical features, genetic diagnoses, and their effects on clinical interventions were collected for analysis. In the 354 enrolled patients, 131 (37%) received genetic diagnoses; 95 (72.5%) of them were autosomal recessively inherited diseases. Two hundred and fifteen variants spanning 57 genes were classified as pathogenic (P) or likely pathogenic (LP) in 131 patients. The leading cause was metabolic disorders due to 35 genes found in 89 patients (68%). The other 42 NMA patients (32%) with 22 genes had malformations and renal, neuromuscular, and immune-hematological disorders. Seven genes (MMUT, MMACHC, CHD7, NPHS1, OTC, IVD, and PHOX2B) were noted in more than four patients, accounting for 48.9% (64/131) of the identified P/LP variants. Forty-six diagnosed patients with uncorrected NMA died or gave up. In conclusion, 37% of neonates with metabolic acidosis had genetic disorders. Next-generation sequencing should be considered when investigating the etiology of NMA in NICUs. Based on early molecular diagnoses, valuable treatment options can be provided for some genetic diseases to achieve better outcomes.
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Type d'étude: Etiology_studies Langue: En Journal: Front Pediatr Année: 2021 Type de document: Article Pays d'affiliation: Chine Pays de publication: Suisse

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Type d'étude: Etiology_studies Langue: En Journal: Front Pediatr Année: 2021 Type de document: Article Pays d'affiliation: Chine Pays de publication: Suisse