A Novel Mutation in TSC2 Gene: A 34-Year-Old Female with Pulmonary Lymphangioleiomyomatosis with Concomitant Hepatic Lesions
Joint Authors
Nadiri, Mehdi
Raeisi, Mortaza
Mousavi Aghdas, Seyed Ali
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-02-15
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
Tuberous sclerosis complex (TSC) is an autosomal dominant disease resulting from mutation(s) in TSC1 or TSC2 genes.
TSC is associated with the formation of hamartomas in the brain, heart, eyes, skin, kidneys, and lymphangioleiomyomatosis (LAM) of the lungs.
LAM is almost restricted to women in reproductive age.
Different mutations in TSC1 and TSC2 genes have been reported in the literature.
Here, we present a female patient with TSC-LAM with a novel mutation in TSC2 gene.
The patient also had multiple hepatic angiomyolipomas, which is a relatively less-reported manifestation of the disease.
The impact of this mutation on the pattern of disease presentation and response to treatment is not clear yet.
American Psychological Association (APA)
Nadiri, Mehdi& Raeisi, Mortaza& Mousavi Aghdas, Seyed Ali. 2018. A Novel Mutation in TSC2 Gene: A 34-Year-Old Female with Pulmonary Lymphangioleiomyomatosis with Concomitant Hepatic Lesions. Case Reports in Pulmonology،Vol. 2018, no. 2018, pp.1-3.
https://search.emarefa.net/detail/BIM-1149486
Modern Language Association (MLA)
Nadiri, Mehdi…[et al.]. A Novel Mutation in TSC2 Gene: A 34-Year-Old Female with Pulmonary Lymphangioleiomyomatosis with Concomitant Hepatic Lesions. Case Reports in Pulmonology No. 2018 (2018), pp.1-3.
https://search.emarefa.net/detail/BIM-1149486
American Medical Association (AMA)
Nadiri, Mehdi& Raeisi, Mortaza& Mousavi Aghdas, Seyed Ali. A Novel Mutation in TSC2 Gene: A 34-Year-Old Female with Pulmonary Lymphangioleiomyomatosis with Concomitant Hepatic Lesions. Case Reports in Pulmonology. 2018. Vol. 2018, no. 2018, pp.1-3.
https://search.emarefa.net/detail/BIM-1149486
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1149486