Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation.
نویسندگان
چکیده
Noonan syndrome is characterised by distinct facial stigmata, short stature and congenital cardiopathy. It has a high genetic heterogeneity and mutations in six different genes can be involved. We report a patient with Noonan syndrome and a novel KRAS mutation who presents systemic lupus erythematosus.
منابع مشابه
Association of Macrophage Activating Syndrome with Castleman’s Syndrome in Systemic Lupus Erythematosus
Macrophage Activating Syndrome (MAS) is a life-threatening disease seen in autoimmune diseases including lupus erythematosus, rheumatoid arthritis, Still's disease, polyarteritis nodosa. It is characterized by fever, pancytopenia, liver failure, coagulopathy, and neurologic symptoms and high serum ferritin. A 27 yr. old female patient was admitted in shahid Mostafa Khomeini Hospital (Tehran-Ira...
متن کاملThrombolytic Therapy for Cerebral Vein Thrombosis in Antiphospholipid Syndrome Secondary to Systemic Lupus Erythematosus
A 20-year-old woman was admitted to a Gynecology Hospital in her 6th month of pregnancy for high blood pressure and tonic-clonic seizure. Primary diagnosis was eclampsia, and for that reason she underwent cesarean section. She also had headache on frontal and parietal areas without nausea or vomiting. There was not a focal neurological sign. Rheumatology consultation was requested. Systemic lup...
متن کاملLibman-Sacks endocarditis in patients with systemic lupus erythematosus with secondary antiphospholipid syndrome
Background: Libman-Sacks endocarditis (LSE) is characterized by sterile lesions that commonly affect the aortic and mitral heart valves. Antiphospholipid syndrome (APS) and systemic lupus erythematosus (SLE) have been associated with LSE. Cardiac manifestations including LSE could be interrelated with other manifestations and early diagnosis could help in preventing further complications. Case...
متن کاملAnticardiolipin Antibodies in Juvenile Rheumatoid Arthritis and Systemic Lupus Erythematosus
Background: Antiphospholipid antibody syndrome (APS) can either occur as a primary syndrome or associated with other autoimmune diseases such as systemic lupus erythematosus (SLE). Anticardiolipin antibody (aCL) of IgG and/or IgM isotype in blood, measured by a standardized ELISA is the most acceptable laboratory criteria. APS IgG isotype, particularly IgG2 subclass is more strongly associated ...
متن کاملPReS-FINAL-2353: Are rasopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus?
Introduction RASopathies (Noonan syndrome (NS) and Noonan-related syndromes) are neurodevelopmental syndromes resulting from germline mutations in genes that participate in the rat sarcoma/mitogen-activated protein kinases (RAS/ MAPK) pathway (PTPN11, SOS1, RAF, KRAS or NRAS and SHOC2). Some monogenic conditions are associated with the development of systemic lupus erythematosus (SLE), and a fe...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Clinical and experimental rheumatology
دوره 28 4 شماره
صفحات -
تاریخ انتشار 2010