The study was registered at http://www.clintrials.gov . NCT02645565.

Systemic lupus erythematosus (SLE) is a systemic autoimmune disease with multiple etiological factors. Mannose-binding lectin (MBL) plays a key role in innate immunity by activating antibody-independent lectin complement pathway, opsonisation, phagocytosis, and immune complex (IC) clearance. Genetic polymorphisms in the promoter and coding regions of MBL gene affect the circulatory levels and biological activity of MBL. Defects in MBL can lead to defective opsonisation and, hence, hamper clearance of apoptotic debris, the persistence of which can drive autoantibody formation in lupus. The exon1 variants at codon 52, 54, and 57 have been reported to augment the risk of SLE in different ethnic populations. Three hundred South Indian Tamil patients with SLE and 460 age-, sex-, and ethnicity-matched controls were genotyped for three polymorphisms at codon 52, 54, and 57 in exon1 of MBL gene by Taqman real-time PCR. The three polymorphisms in exon1 of MBL were observed not to confer risk of developing SLE. However, MBL codon 54 rs1800450 polymorphism was associated with the development of medium vessel vasculitis and gangrene (OR-2.29, CI 95% 1.08-4.83, p = 0.02), whereas, the ancestral allele G conferred protection (OR-0.44, CI 95% 0.21-0.93, p = 0.02). Genetic variants in the exon1 of MBL gene per se are not risk factors for SLE in South Indian Tamils. However, the association of codon 54 (rs1800450) with medium vessel vasculitis suggests that it may be a genetic modifier of clinical phenotype in SLE.

Background Primary Sjögren's syndrome (pSS) is a systemic autoimmune disorder with predominant involvement of exocrine glands in middle aged females. It may involve extra-glandular tissues such as lung, liver, kidney, pancreas, skin, and central nervous system. Clinically significant renal involvement in pSS is rare and interstitial nephritis is the commonest histopathological finding1. The resulting tubular defects may present with failure to concentrate urine (hyposthenuria) and type I (distal) renal tubular acidosis characterized by hyperchloremic metabolic acidosis and hypokalemia. We describe a series of 15 cases of pSS who presented with hypokalemic periodic paralysis as the initial manifestation. Their clinical features; biochemical and immunological parameters are compared and contrasted with those without hypokalemic weakness. Objectives To explore the clinical, biochemical, serologic features, and therapeutic responses in Primary Sjogrens syndrome (pSS) patients who presented with hypokalemic paralysis as the initial manifestation. Methods Sixty patients of pSS (diagnosis based on modified European-American classification criteria) are on our follow up from November 2009 to August 2012. A few of these patients were diagnosed following admission to emergency services with hypokalemic paralysis. They were compared for differences in clinical features, biochemistry and serological parameters with pSS patients without hypokalemic paralysis. Results Symptomatic hypokalemia was the presenting symptom in 15 out of 60 (25%) primary SS. All patients in the hypokalemic paralysis group were females and with a lower age of onset (27.8±8.3 vs 38.85±11.5 yrs). Six of 15 (40%) patients did not have the classical sicca symptoms. All patients with hypokalemic paralysis had biochemical features of distal renal tubular acidosis and high titers of anti SSA antibody. During a mean follow up of sixteen months, only two patient developed relapse of hypokalemic weakness following stoppage of potassium supplements. Conclusions There exists a distinct subset of pSS who present with onset at younger age, distal RTA, hypokalemic paralysis and high titres of anti SSA antibody sometimes even without characteristic exocrinopathy. Genetic analysis may help in further characterization of these patients. Therefore, all young females presenting with hypokalemic paralysis should be investigated for underlying pSS. References Andreas V. Goules, Ioanna P. Tatouli, Haralampos M. Moutsopoulos, Athanasios G. Tzioufas. Clinically Significant Renal Involvement in Primary Sjögren's Syndrome. Clinical Presentation and Outcome. Arthritis & Rheumatism.2013 Nov;65(11):2945–53 Disclosure of Interest None declared DOI 10.1136/annrheumdis-2014-eular.1739

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