Two novel gene mutations identified in a child with pulmonary alveolar microlithiasis complicated with bronchitis obliterans: A case report and literature review

We reported a case of a 7‐year‐old boy with pulmonary alveolar microlithiasis (PAM) and detected two novel compound heterozygous mutations of solute carrier family 34 member 2 (SLC34A2), EXON:2–6 duplication and c.1218 (EXON:11) C > A (p. Phe406Leu). His symptoms were nonspecific. Chest computed...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Meiyu, Gao, Man, Liu, Yuhuan, Wang, Kun, Zhou, Siyan, Jing, Haoran, Yin, Guo, Meng, Fanzheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10415588/
https://www.ncbi.nlm.nih.gov/pubmed/37575464
http://dx.doi.org/10.1002/ccr3.7726
_version_ 1785087575569989632
author Zhang, Meiyu
Gao, Man
Liu, Yuhuan
Wang, Kun
Zhou, Siyan
Jing, Haoran
Yin, Guo
Meng, Fanzheng
author_facet Zhang, Meiyu
Gao, Man
Liu, Yuhuan
Wang, Kun
Zhou, Siyan
Jing, Haoran
Yin, Guo
Meng, Fanzheng
author_sort Zhang, Meiyu
collection PubMed
description We reported a case of a 7‐year‐old boy with pulmonary alveolar microlithiasis (PAM) and detected two novel compound heterozygous mutations of solute carrier family 34 member 2 (SLC34A2), EXON:2–6 duplication and c.1218 (EXON:11) C > A (p. Phe406Leu). His symptoms were nonspecific. Chest computed tomography (CCT) showed bronchiectasis, a mosaic feature, and extensive calcifications in both lungs. In addition, bronchoscopy showed bronchitis obliterans which has rarely been reported as a complication in the literature. This case aimed to explore the mechanism of PAM and emphasize the role of gene analysis in diagnosing rare pediatric diseases. Finally, we undertook a review of the current literature containing SLC34A2 gene mutations to update the gene mutation spectrum of PAM.
format Online
Article
Text
id pubmed-10415588
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-104155882023-08-12 Two novel gene mutations identified in a child with pulmonary alveolar microlithiasis complicated with bronchitis obliterans: A case report and literature review Zhang, Meiyu Gao, Man Liu, Yuhuan Wang, Kun Zhou, Siyan Jing, Haoran Yin, Guo Meng, Fanzheng Clin Case Rep Case Report We reported a case of a 7‐year‐old boy with pulmonary alveolar microlithiasis (PAM) and detected two novel compound heterozygous mutations of solute carrier family 34 member 2 (SLC34A2), EXON:2–6 duplication and c.1218 (EXON:11) C > A (p. Phe406Leu). His symptoms were nonspecific. Chest computed tomography (CCT) showed bronchiectasis, a mosaic feature, and extensive calcifications in both lungs. In addition, bronchoscopy showed bronchitis obliterans which has rarely been reported as a complication in the literature. This case aimed to explore the mechanism of PAM and emphasize the role of gene analysis in diagnosing rare pediatric diseases. Finally, we undertook a review of the current literature containing SLC34A2 gene mutations to update the gene mutation spectrum of PAM. John Wiley and Sons Inc. 2023-08-10 /pmc/articles/PMC10415588/ /pubmed/37575464 http://dx.doi.org/10.1002/ccr3.7726 Text en © 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Zhang, Meiyu
Gao, Man
Liu, Yuhuan
Wang, Kun
Zhou, Siyan
Jing, Haoran
Yin, Guo
Meng, Fanzheng
Two novel gene mutations identified in a child with pulmonary alveolar microlithiasis complicated with bronchitis obliterans: A case report and literature review
title Two novel gene mutations identified in a child with pulmonary alveolar microlithiasis complicated with bronchitis obliterans: A case report and literature review
title_full Two novel gene mutations identified in a child with pulmonary alveolar microlithiasis complicated with bronchitis obliterans: A case report and literature review
title_fullStr Two novel gene mutations identified in a child with pulmonary alveolar microlithiasis complicated with bronchitis obliterans: A case report and literature review
title_full_unstemmed Two novel gene mutations identified in a child with pulmonary alveolar microlithiasis complicated with bronchitis obliterans: A case report and literature review
title_short Two novel gene mutations identified in a child with pulmonary alveolar microlithiasis complicated with bronchitis obliterans: A case report and literature review
title_sort two novel gene mutations identified in a child with pulmonary alveolar microlithiasis complicated with bronchitis obliterans: a case report and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10415588/
https://www.ncbi.nlm.nih.gov/pubmed/37575464
http://dx.doi.org/10.1002/ccr3.7726
work_keys_str_mv AT zhangmeiyu twonovelgenemutationsidentifiedinachildwithpulmonaryalveolarmicrolithiasiscomplicatedwithbronchitisobliteransacasereportandliteraturereview
AT gaoman twonovelgenemutationsidentifiedinachildwithpulmonaryalveolarmicrolithiasiscomplicatedwithbronchitisobliteransacasereportandliteraturereview
AT liuyuhuan twonovelgenemutationsidentifiedinachildwithpulmonaryalveolarmicrolithiasiscomplicatedwithbronchitisobliteransacasereportandliteraturereview
AT wangkun twonovelgenemutationsidentifiedinachildwithpulmonaryalveolarmicrolithiasiscomplicatedwithbronchitisobliteransacasereportandliteraturereview
AT zhousiyan twonovelgenemutationsidentifiedinachildwithpulmonaryalveolarmicrolithiasiscomplicatedwithbronchitisobliteransacasereportandliteraturereview
AT jinghaoran twonovelgenemutationsidentifiedinachildwithpulmonaryalveolarmicrolithiasiscomplicatedwithbronchitisobliteransacasereportandliteraturereview
AT yinguo twonovelgenemutationsidentifiedinachildwithpulmonaryalveolarmicrolithiasiscomplicatedwithbronchitisobliteransacasereportandliteraturereview
AT mengfanzheng twonovelgenemutationsidentifiedinachildwithpulmonaryalveolarmicrolithiasiscomplicatedwithbronchitisobliteransacasereportandliteraturereview

Ejemplares similares