TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex
| العنوان: | TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex |
|---|---|
| المؤلفون: | Amita Sharma, Elizabeth A. Thiele, Adam L. Numis, David A. Muzykewicz, Victorine V. Muse, Jayaraj Rajagopal |
| المصدر: | Journal of Medical Genetics. 46:465-468 |
| بيانات النشر: | BMJ, 2009. |
| سنة النشر: | 2009 |
| مصطلحات موضوعية: | Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, DNA Mutational Analysis, Gastroenterology, Statistics, Nonparametric, Tuberous Sclerosis Complex 1 Protein, Cohort Studies, Tuberous sclerosis, Tuberous Sclerosis, hemic and lymphatic diseases, Internal medicine, Tuberous Sclerosis Complex 2 Protein, Genetics, medicine, Humans, Lymphangioleiomyomatosis, Genetics (clinical), Retrospective Studies, Chi-Square Distribution, Lung, business.industry, Tumor Suppressor Proteins, Retrospective cohort study, bacterial infections and mycoses, medicine.disease, nervous system diseases, Endocrinology, medicine.anatomical_structure, Mutation, Female, Radiography, Thoracic, lipids (amino acids, peptides, and proteins), TSC1, TSC2, business, Chi-squared distribution, Cohort study |
| الوصف: | Lymphangioleiomyomatosis (LAM) is a prominent finding in the setting of tuberous sclerosis complex (TSC). The present study was designed to compare cystic lung changes consistent with LAM in patients with a TSC1 disease-causing mutation, TSC2 disease-causing mutation, or no mutation identified (NMI). We conducted a retrospective review of the chest computed-tomography (CT) of 45 female and 20 male patients with TSC and found cysts consistent with LAM in 22 (49%) women and two (10%) men. In the female population, changes consistent with LAM were observed in six of 15 (40%) patients with TSC1 , 11 of 23 (48%) with TSC2 , and five of seven (71%) with NMI. While the predominant size of cysts did not differ across these three groups, TSC2 women with LAM had a significantly greater number of cysts than did TSC1 patients (p = 0.010). These findings suggest a higher rate of LAM in TSC1 than previously recognized, as well as a fundamental difference in CT presentation between TSC1 and TSC2 . |
| تدمد: | 1468-6244 0022-2593 |
| DOI: | 10.1136/jmg.2008.065342 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac50ccb0042cd5895dbf9672d9aff515 https://doi.org/10.1136/jmg.2008.065342 |
| رقم الانضمام: | edsair.doi.dedup.....ac50ccb0042cd5895dbf9672d9aff515 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14686244 00222593 |
|---|---|
| DOI: | 10.1136/jmg.2008.065342 |