Lung disease associated with filamin A gene mutation: a case report
| Autor: | Khalid Al-Mobaireek, Mohammed M. Al-Balawi, Khalid S. Ahmad, Abdullah Al-Shamrani, Safa Eltahir, Hussien Bukhamsien, Wadha Alotaibi |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Lung Diseases
0301 basic medicine Pathology medicine.medical_specialty Filamins Case Report Atelectasis Gene mutation Filamin Bioinformatics Pediatrics 03 medical and health sciences 0302 clinical medicine Coagulopathy Humans Medicine FLNA Lung emphysema Lung Medicine(all) Neovascularization Pathologic Respiratory distress business.industry Infant General Medicine respiratory system medicine.disease respiratory tract diseases 030104 developmental biology medicine.anatomical_structure Lung disease Mutation Female Angiogenesis business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Medical Case Reports |
| ISSN: | 1752-1947 |
| DOI: | 10.1186/s13256-016-0871-1 |
| Popis: | Background Mutations in the gene encoding filamin A (FLNA) lead to diseases with high phenotypic diversity including periventricular nodular heterotopia, skeletal dysplasia, otopalatodigital spectrum disorders, cardiovascular abnormalities, and coagulopathy. FLNA mutations were recently found to be associated with lung disease. In this study, we report a novel FLNA gene associated with significant lung disease and unique angiogenesis. Case presentation Here, we describe a 1-year-old Saudi female child with respiratory distress at birth. The child then had recurrent lower respiratory tract infections, bilateral lung emphysema with basal atelectasis, bronchospasm, pulmonary artery hypertension, and oxygen and mechanical ventilation dependency. Molecular testing showed a new pathogenic variant of one copy of c.3153dupC in exon 21 in the FLNA gene. Conclusions Our data support previous reports in the literature that associate FLNA gene mutation and lung disease. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|