一名中国婴儿因CFTR基因c.532G>A突变导致囊性纤维化并发假性巴特综合征 - Suppr

Pseudo-Bartter Syndrome in a Chinese Infant with Cystic Fibrosis Caused by c.532G>A Mutation in .

作者信息

Yao Yao, Feng Xue-Li, Xu Bao-Ping, Shen Kun-Ling

机构信息

National Clinical Research Center for Respiratory Diseases, Department of Respiratory Medicine, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.

出版信息

Chin Med J (Engl). 2017 Nov 20;130(22):2771-2772. doi: 10.4103/0366-6999.218015.

DOI:10.4103/0366-6999.218015

PMID:29133775

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5695073/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45a1/5695073/f018caed8b01/CMJ-130-2771-g001.jpg

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Saudi J Kidney Dis Transpl. 2013 Mar;24(2):292-6. doi: 10.4103/1319-2442.109579.

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Pseudo-Bartter Syndrome in a Chinese Infant with Cystic Fibrosis Caused by c.532G>A Mutation in .

作者信息

Yao Yao, Feng Xue-Li, Xu Bao-Ping, Shen Kun-Ling

机构信息

出版信息

Chin Med J (Engl). 2017 Nov 20;130(22):2771-2772. doi: 10.4103/0366-6999.218015.

DOI:10.4103/0366-6999.218015

PMID:29133775

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5695073/

Abstract

摘要

相似文献

Pseudo-Bartter Syndrome in a Chinese Infant with Cystic Fibrosis Caused by c.532G>A Mutation in .

Chin Med J (Engl). 2017 Nov 20;130(22):2771-2772. doi: 10.4103/0366-6999.218015.

Pseudo-Bartter syndrome in Chinese children with cystic fibrosis: Clinical features and genotypic findings.

Pediatr Pulmonol. 2020 Nov;55(11):3021-3029. doi: 10.1002/ppul.25012. Epub 2020 Aug 13.

Pseudo-Bartter syndrome as the sole manifestation of cystic fibrosis in a child with 711+G>T/IVS8-5T mutation: a new face of an old disease.

Ann Biol Clin (Paris). 2017 Aug 1;75(4):466-473. doi: 10.1684/abc.2017.1268.

Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis.

Front Med. 2018 Oct;12(5):550-558. doi: 10.1007/s11684-017-0567-y. Epub 2018 Mar 9.

[Cystic fibrosis primarily presenting with pseudo-Bartter syndrome: a report of three cases and literature review].

Zhongguo Dang Dai Er Ke Za Zhi. 2024 May 15;26(5):506-511. doi: 10.7499/j.issn.1008-8830.2310080.

Cystic Fibrosis Presenting as Pseudo-Bartter Syndrome: An Important Diagnosis that is Missed!

Indian J Pediatr. 2020 Sep;87(9):726-732. doi: 10.1007/s12098-020-03342-8. Epub 2020 Jun 5.

Should isolated Pseudo-Bartter syndrome be considered a CFTR-related disorder of infancy?

Pediatr Pulmonol. 2019 Oct;54(10):1578-1583. doi: 10.1002/ppul.24433. Epub 2019 Jul 21.

K162E - A rare and uncategorized CFTR variant causing cystic fibrosis.

J Cyst Fibros. 2021 May;20(3):489-491. doi: 10.1016/j.jcf.2020.07.007. Epub 2020 Jul 14.

A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis.

Clin Respir J. 2017 Nov;11(6):696-702. doi: 10.1111/crj.12401. Epub 2015 Nov 3.

Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients.

Pediatr Pulmonol. 2017 Mar;52(3):E11-E14. doi: 10.1002/ppul.23539. Epub 2016 Oct 7.

引用本文的文献

[Cystic fibrosis primarily presenting with pseudo-Bartter syndrome: a report of three cases and literature review].

Zhongguo Dang Dai Er Ke Za Zhi. 2024 May 15;26(5):506-511. doi: 10.7499/j.issn.1008-8830.2310080.

c.753_754delAG, a novel mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature.

World J Clin Cases. 2019 Aug 6;7(15):2110-2119. doi: 10.12998/wjcc.v7.i15.2110.

本文引用的文献

Four case reports of Chinese cystic fibrosis patients and literature review.

Pediatr Pulmonol. 2017 Aug;52(8):1020-1028. doi: 10.1002/ppul.23744. Epub 2017 Jun 13.

Clinical Phenotypes and Genotypic Spectrum of Cystic Fibrosis in Chinese Children.

J Pediatr. 2016 Apr;171:269-76.e1. doi: 10.1016/j.jpeds.2015.12.025. Epub 2016 Jan 27.

Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.

Respirology. 2015 Nov;20(8):1172-81. doi: 10.1111/resp.12656. Epub 2015 Oct 6.

Pseudo-bartter syndrome, pattern and correlation with other cystic fibrosis features.

Saudi J Kidney Dis Transpl. 2013 Mar;24(2):292-6. doi: 10.4103/1319-2442.109579.

Hyponatremic dehydration as a presentation of cystic fibrosis.

Pediatr Emerg Care. 2006 Nov;22(11):725-7. doi: 10.1097/01.pec.0000245170.31343.bb.

Pseudo-Bartter Syndrome in a Chinese Infant with Cystic Fibrosis Caused by c.532G>A Mutation in .

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Pseudo-Bartter Syndrome in a Chinese Infant with Cystic Fibrosis Caused by c.532G>A Mutation in .

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