Pauci-immune Lupus Nephritis in Antiphospholipid Disease: A Diagnostic Challenge.

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that leads to immune complex deposition in different organs, especially the kidneys. Pauci-immune lupus nephritis (LN) is a very rare condition. About 40% of SLE cases have a positive antiphospholipid antibody (aPL). So, diagnosing primary antiphospholipid syndrome (APS) in SLE patients is challenging because most symptoms of primary APS can be similar to SLE as described in the American College of Rheumatology/Systemic Lupus Erythematosus International Collaborating Clinics classification criteria for SLE. APS might present as thrombotic microangiopathy (TMA) involving arterioles and glomerular capillaries. We need an adequate renal biopsy to differentiate between lupus and APS nephropathy. A 38-year-old man was diagnosed with biopsy-proven primary APS and LN. Hewas commenced on anticoagulants, pulse steroids, rituximab, and with mycophenolatemofetil as a maintenance therapy in collaboration with the rheumatologist. Here we discuss the occurrence and implications of primary APS and Pauci-immune LN in adults.

TNF-α and TNF-ß Gene Polymorphism in Saudi Rheumatoid Arthritis Patients.

BACKGROUND: Tumor necrosis factor (TNF)-α and -ß are cytokines with a wide range of inflammatory, apoptotic and immunomodulatory activities. TNF-α promoter -308 G < A polymorphism has been reported to be associated with rheumatoid arthritis (RA) with inconsistent results. OBJECTIVE: The aim of this study is to elucidate a possible association of TNF-α (G-308A) and TNF-ß (A+252G) polymorphisms with the susceptibility of RA in Saudi patients. PATIENTS AND METHODS: This case control study consisted of 232 Saudi subjects including 106 RA patients and 126 matched controls. Genomic DNA was extracted using QIAamp(R) DNA mini kit (Qiagen CA, USA). TNF-α and TNF-ß genes were amplified using Arms primers. RESULTS: The frequencies of TNF-α (-308) allele G and genotype GG were significantly higher in RA patients as compared to controls while allele A and genotype AA were predominant in control group. On the other hand the frequency of TNF-ß (+252) GG and AA genotypes were significantly higher in RA patients as compared to controls while GA genotype was predominant in controls. It was inferred that genotype GG positive individuals at position -308 of TNF-α were susceptible to RA while genotype AA might has a protective effect on RA susceptibility in Saudis. Whereas GG and AA genotype of TNF-ß at +252 position might exert additive susceptibility to RA and GA might be refractory. However, there was no significant association between duration of morning stiffness, RF positivity and number of joints involved and distribution of alleles/genotypes of TNF-α (-308) or TNF-ß (+252) polymorphism. It may be concluded that the TNF-α (-308) and TNF-ß (+252) polymorphisms might influence the susceptibility to RA in Saudi population. These results might have prognostic value for future clinical observations.

HLA-DRB1 association in Saudi rheumatoid arthritis patients.

Association between HLA-DRB1 alleles and rheumatoid arthritis (RA) has been known for more than three decades. However, the strength of these links varies between ethnic groups. This study examines the frequency of HLA-DRB1 alleles amongst Saudi RA patients. The DRB1 region of major histocompatibility complex was screened by polymerase chain reaction/sequence specific primers (PCR/SSP) in a total of 140 subjects including 70 RA patients and 70 matched healthy controls. HLA-DRB1 *04 was found to be the most frequent allele associated with RA followed by DRB1 *08 and DRB1 *10. On the other hand, the frequency of DRB1*06 was found to be decreased in RA patients as compared to controls. Molecular sub typing of the most prevalent allele DRB1 *04 revealed a statistically significant association between RA and DRB1 *0405. We conclude that an improved understanding about the influence of HLA on RA might help in predicting the susceptibility or protection against disease.