- 作者：Brigitte Bader-Meunier ; H茅l猫ne Cav茅 ; Nadia Jeremiah ; Aude Magerus ; Nina Lanzarotti ; Fr茅d茅ric Rieux-Laucat ; Val茅rie Cormier-Daire
- 关键词：Lupus ; Noonan ; RASopathies
- 刊名：Seminars in Arthritis and Rheumatism
- 出版年：October, 2013
- 年：2013
- 卷：43
- 期：2
- 页码：217-219
- 全文大小：174 K
Objective
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 few reports described the association of SLE with NS. We aim to search for a relationship between RASopathy and the development of SLE.Methods
We reported for the first time a case of 13-year-old boy with NS with loose anagen hair (NSLAH) resulting from mutation in SHOC2 who developed an autoimmune disorder that fulfilled four American College of Rheumatology (ACR) criteria for the classification of SLE (polyarthritis, pericarditis, antinuclear antibodies, and anti-DNA antibodies). The case report then prompted a literature review by a systematic search for English and French articles on the subjects of RASopathies and SLE that had English abstracts in PubMed from 1966 to 2012.
Results
We identified seven additional patients with RASopathy and SLE. The male-to-female ratio was 1:1 and age at onset of SLE ranged from 5 to 32 years. The most common features were polyarthritis (7/8 patients), autoimmune cytopenia (4/8 patients), and pericarditis (4/8 patients) while only one patient presented with skin involvement.
Conclusion
The association of two rare diseases in eight patients suggests that RASopathies may be associated with the development of SLE, which is characterized by a higher male-to-female ratio, a lower rate of skin involvement, and a higher rate of pericarditis than 鈥渃lassic鈥?SLE.