Association of PDCD1 polymorphism to systemic lupus erythematosus and rheumatoid arthritis susceptibility.

OBJECTIVE: This study aims to analyze the relationship of programmed cell death 1 (PDCD1) gene polymorphism (PD1.3G/A - rs11568821) with features of systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in a Southern Brazilian population. METHODS: Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was performed in 95 SLE and 87 RA patients and 128 control group individuals from Santa Catarina, Southern Brazil. The Hardy-Weinberg equilibrium (HWE) test, and odds ratio (OR) were analyzed, considering CI 95% and p≤0.05. RESULTS: The PD1.3A allele frequencies were 0.095 (SLE), 0.115 (RA) and 0.078 (controls). The genotypes of the control group were in HWE, while those of SLE and RA patients were not. However, we found no association between PD1.3 polymorphism and the SLE or RA susceptibility, nor clinical or epidemiological data. CONCLUSION: There was no significant association between PD1.3 polymorphism and SLE or RA susceptibility in this Southern Brazilian population.

Axial gout is frequently associated with the presence of current tophi, although not with spinal symptoms.

STUDY DESIGN: Prospective cross-sectional study. OBJECTIVE: To analyze the association of tomographically identified axial gouty lesions with clinical and laboratory characteristics. SUMMARY OF BACKGROUND DATA: Axial gout might be more common than previously thought. The true relationship of these lesions to symptoms or other gout-associated features is poorly understood. METHODS: Forty-two patients with gout underwent thoracic and lumbar spine computed tomographic (CT) scans. CT scans were read by an experienced radiologist blinded to the features of the patients. Axial gout was defined as the presence of bony erosions, facet joints, or disc calcification and tophi in the axial skeleton. Epidemiological and clinical data were collected from medical records. At study entry, patients were evaluated for axial symptoms (back pain or neurological complaints) and subcutaneous tophi. The Fisher exact test and the Student t test were performed for statistical analyses of data. RESULTS: Twelve (29%) of the 42 patients had CT evidence of axial gout. Axial tophi were identified in 5 patients (12%), interapophyseal joints erosions or calcifications in 7 patients (17%), and discal abnormalities in 9 patients (21%). Lumbar spine involvement was a universal finding. Five patients (42%) had thoracic spine involvement and 2 patients (18%) had sacroiliac lesions. No association was found between symptoms and axial gout (P = 0.62). Duration of gout, mechanism of disease (overproduction vs. underexcretion), and metabolic comorbidities were not related to axial involvement. A higher prevalence of axial gout was found between patients with current peripheral tophi (67% vs. 30%; P = 0.03); however, no association was found in patients with a past history of tophi (P = 0.72). CONCLUSION: Our study demonstrated a high prevalence of axial gout not associated with spine symptoms. This finding introduces a differential diagnosis in axial lesions in patients with gout. In addition, the unique association with a current but not previous history of peripheral tophi suggests that gout treatment might be effective in preventing or solving gout axial lesions. LEVEL OF EVIDENCE: 3.

Gout in the spine.

Axial gout can affect all segments of the spine. It is manifested as back pain, as pain associated with neurological symptoms, and as neurological impairment without pain in 17.9%, 75.8% and 4.2% of cases, respectively. These manifestations were the first presentation of gout in many patients. Although x-rays as well as computed tomography and especially magnetic resonance scans can be very suggestive, histopathological, cytological and crystal analyses are the diagnostic gold standard. In most cases involving neurological manifestations, the patient underwent surgery, leading to satisfactory results. There are, however, some reports of full recovery following the usual clinical treatment for gout, suggesting that such treatment may be the initial option for those subjects with a history of gout and radiological findings of axial involvement.

Increased prevalence of simple renal cysts in patients with gout.

The aim of this study was to determine the prevalence of simple renal cysts in gout patients and evaluate associated risk factors for its development. Hundred and forty-six patients followed at our outpatient Gout Unit and 47 sex- and age-matched healthy kidney donors who had undergone routine renal ultrasonography, using a static gray scale and real-time B-mode units with a 3.5- or 5.0-MHz transducer, were evaluated for the presence of renal cysts. Demographic and clinical characteristics of gout patients were evaluated considering possible risk factors for the occurrence of simple renal cysts such as age, male gender, hypertension, and renal impairment. The prevalence of simple renal cyst was 26.0 % in gout patients and 10.6 % in control group (P = 0.045). Gout patients with simple renal cysts presented less renal lithiasis than those without this complication (5.2 vs 25.9 %; P = 0.003) in spite of an overall higher frequency of renal stones in gout patients compared to control group (20.5 vs. 6.3 %, P = 0.025). The presence of simple renal cyst in gout was not associated with previously reported factors such as age (P = 0.296), male predominance (P = 0.688), hypertension (P = 0.314), and renal impairment (P = 254). Moreover, no association with disease duration (P = 0.843) or tophi (P = 0.616) was observed. In conclusion, gout patients have an increased prevalence of simple renal cysts associated with a lower occurrence of nephrolithiasis. Whether renal cysts have any protective effect in the development of nephrolithiasis in gout remains to be determined.