A Novel Mutation in TSC2 Gene: A 34-Year-Old Female with Pulmonary Lymphangioleiomyomatosis with Concomitant Hepatic Lesions
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 repro...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Pulmonology |
| Online Access: | http://dx.doi.org/10.1155/2018/5928231 |
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| author | Mehdi Nadiri Mortaza Raeisi Seyed Ali Mousavi Aghdas |
| author_facet | Mehdi Nadiri Mortaza Raeisi Seyed Ali Mousavi Aghdas |
| author_sort | Mehdi Nadiri |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-ceaef16994aa43afb52e4938c07013e1 |
| institution | Kabale University |
| issn | 2090-6846 2090-6854 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pulmonology |
| spelling | doaj-art-ceaef16994aa43afb52e4938c07013e12025-02-03T01:03:19ZengWileyCase Reports in Pulmonology2090-68462090-68542018-01-01201810.1155/2018/59282315928231A Novel Mutation in TSC2 Gene: A 34-Year-Old Female with Pulmonary Lymphangioleiomyomatosis with Concomitant Hepatic LesionsMehdi Nadiri0Mortaza Raeisi1Seyed Ali Mousavi Aghdas2Pulmonology Department, Imam Reza Hospital, Tabriz University of Medical Sciences, Tabriz, IranHematology & Oncology Research Center, Tabriz University of Medical Sciences, Tabriz, IranStudents’ Research Committee, Tabriz University of Medical Sciences, Tabriz, IranTuberous 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.http://dx.doi.org/10.1155/2018/5928231 |
| spellingShingle | Mehdi Nadiri Mortaza Raeisi Seyed Ali Mousavi Aghdas A Novel Mutation in TSC2 Gene: A 34-Year-Old Female with Pulmonary Lymphangioleiomyomatosis with Concomitant Hepatic Lesions Case Reports in Pulmonology |
| title | A Novel Mutation in TSC2 Gene: A 34-Year-Old Female with Pulmonary Lymphangioleiomyomatosis with Concomitant Hepatic Lesions |
| title_full | A Novel Mutation in TSC2 Gene: A 34-Year-Old Female with Pulmonary Lymphangioleiomyomatosis with Concomitant Hepatic Lesions |
| title_fullStr | A Novel Mutation in TSC2 Gene: A 34-Year-Old Female with Pulmonary Lymphangioleiomyomatosis with Concomitant Hepatic Lesions |
| title_full_unstemmed | A Novel Mutation in TSC2 Gene: A 34-Year-Old Female with Pulmonary Lymphangioleiomyomatosis with Concomitant Hepatic Lesions |
| title_short | A Novel Mutation in TSC2 Gene: A 34-Year-Old Female with Pulmonary Lymphangioleiomyomatosis with Concomitant Hepatic Lesions |
| title_sort | novel mutation in tsc2 gene a 34 year old female with pulmonary lymphangioleiomyomatosis with concomitant hepatic lesions |
| url | http://dx.doi.org/10.1155/2018/5928231 |
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