Management of gout by Moroccan rheumatologists: a Moroccan Society for Rheumatology National Survey.

To assess the modalities and current practices in gout management reported by Moroccan rheumatologists. We performed a cross-sectional online survey using a questionnaire e-mailed to 360 rheumatologists included 30 multiple-choice questions. 105 rheumatologists responded to the survey with 29% of response rate. The number of gout patients seen per month was five (3-9); they were referred in 58.7% by a general practitioner. The clinical presentation of gout patients was dominated by gout crisis in 71%, and the association gout crisis and gouty arthropathy accounted for 19% of severe forms. 40% of rheumatologists apply the 2015ACR/EULAR classification criteria. Obesity accounted for 85.7% of the associated comorbidities. The most commonly prescribed Urate-lowering therapy (ULT) was allopurinol in 81.3% (± 12). 48% of rheumatologists reported starting allopurinol at 200 mg daily and associated it with colchicine during the first 6 months by 33.3%. The determination of uric acid levels was monitoring in 76.2% every 3 months. Administration of ULT to asymptomatic hyperuricemia was found in 69.5% when patients had renal complications, while only 14.3% recommended dietary and lifestyle measures. The median duration for therapeutic education was 15 min (10, 20). In 96.2%, the education of the patient was done orally. 93.3% of rheumatologists inform their patients on how to manage a gout attack, and 96.2% on the measures of hygiene and diet has adopted. Our survey gives an insight into the elements that should be improved in the management of gout by the Moroccan rheumatologists. It highlights the need to standardize the management of gout, hence the importance of developing Moroccan recommendations on gout.

GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.

OBJECTIVE: A genome-wide association study (GWAS) of gout and its subtypes was performed to identify novel gout loci, including those that are subtype-specific. METHODS: Putative causal association signals from a GWAS of 945 clinically defined gout cases and 1213 controls from Japanese males were replicated with 1396 cases and 1268 controls using a custom chip of 1961 single nucleotide polymorphisms (SNPs). We also first conducted GWASs of gout subtypes. Replication with Caucasian and New Zealand Polynesian samples was done to further validate the loci identified in this study. RESULTS: In addition to the five loci we reported previously, further susceptibility loci were identified at a genome-wide significance level (p<5.0×10-8): urate transporter genes (SLC22A12 and SLC17A1) and HIST1H2BF-HIST1H4E for all gout cases, and NIPAL1 and FAM35A for the renal underexcretion gout subtype. While NIPAL1 encodes a magnesium transporter, functional analysis did not detect urate transport via NIPAL1, suggesting an indirect association with urate handling. Localisation analysis in the human kidney revealed expression of NIPAL1 and FAM35A mainly in the distal tubules, which suggests the involvement of the distal nephron in urate handling in humans. Clinically ascertained male patients with gout and controls of Caucasian and Polynesian ancestries were also genotyped, and FAM35A was associated with gout in all cases. A meta-analysis of the three populations revealed FAM35A to be associated with gout at a genome-wide level of significance (p meta =3.58×10-8). CONCLUSIONS: Our findings including novel gout risk loci provide further understanding of the molecular pathogenesis of gout and lead to a novel concept for the therapeutic target of gout/hyperuricaemia.

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.

Rare autosomal dominant tubulointerstitial kidney disease is caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1ß (HNF1B), renin (REN), and mucin-1 (MUC1). Multiple names have been proposed for these disorders, including 'Medullary Cystic Kidney Disease (MCKD) type 2', 'Familial Juvenile Hyperuricemic Nephropathy (FJHN)', or 'Uromodulin-Associated Kidney Disease (UAKD)' for UMOD-related diseases and 'MCKD type 1' for the disease caused by MUC1 mutations. The multiplicity of these terms, and the fact that cysts are not pathognomonic, creates confusion. Kidney Disease: Improving Global Outcomes (KDIGO) proposes adoption of a new terminology for this group of diseases using the term 'Autosomal Dominant Tubulointerstitial Kidney Disease' (ADTKD) appended by a gene-based subclassification, and suggests diagnostic criteria. Implementation of these recommendations is anticipated to facilitate recognition and characterization of these monogenic diseases. A better understanding of these rare disorders may be relevant for the tubulointerstitial fibrosis component in many forms of chronic kidney disease.

Study for Updated Gout Classification Criteria: Identification of Features to Classify Gout.

OBJECTIVE: To determine which clinical, laboratory, and imaging features most accurately distinguished gout from non-gout. METHODS: We performed a cross-sectional study of consecutive rheumatology clinic patients with ≥1 swollen joint or subcutaneous tophus. Gout was defined by synovial fluid or tophus aspirate microscopy by certified examiners in all patients. The sample was randomly divided into a model development (two-thirds) and test sample (one-third). Univariate and multivariate association between clinical features and monosodium urate-defined gout was determined using logistic regression modeling. Shrinkage of regression weights was performed to prevent overfitting of the final model. Latent class analysis was conducted to identify patterns of joint involvement. RESULTS: In total, 983 patients were included. Gout was present in 509 (52%). In the development sample (n = 653), the following features were selected for the final model: joint erythema (multivariate odds ratio [OR] 2.13), difficulty walking (multivariate OR 7.34), time to maximal pain <24 hours (multivariate OR 1.32), resolution by 2 weeks (multivariate OR 3.58), tophus (multivariate OR 7.29), first metatarsophalangeal (MTP1) joint ever involved (multivariate OR 2.30), location of currently tender joints in other foot/ankle (multivariate OR 2.28) or MTP1 joint (multivariate OR 2.82), serum urate level >6 mg/dl (0.36 mmoles/liter; multivariate OR 3.35), ultrasound double contour sign (multivariate OR 7.23), and radiograph erosion or cyst (multivariate OR 2.49). The final model performed adequately in the test set, with no evidence of misfit, high discrimination, and predictive ability. MTP1 joint involvement was the most common joint pattern (39.4%) in gout cases. CONCLUSION: Ten key discriminating features have been identified for further evaluation for new gout classification criteria. Ultrasound findings and degree of uricemia add discriminating value, and will significantly contribute to more accurate classification criteria.

Tofo gotoso nasal: resección y tratamiento reconstructivo de secuelas / Nasal gouty tophus: resection and reconstructive treatment of sequelae

La gota es la artropatía más frecuente causada por microcristales, que afecta principalmente a hombres entre los 30 y 50 años. Su diagnóstico se confirma en presencia de hiperuricemia, tofo gotoso, ataques agudos de artritis y/o artritis crónica. Los tofos son conglomerados de cristales de urato que se localizan por lo general en las articulaciones de las extremidades, y rara vez ocurren a nivel nasal. En la literatura se han publicado tres casos de tofo gotoso nasal en los últimos 50 años. En este artículo se reportan dos casos clínicos de pacientes masculinos de 54 y 60 años con tofo gotoso nasal. Se enfatiza en su presentación clínica, hallazgos radiológicos, resección quirúrgica, secuelas estructurales sobre el dorso nasal, reconstrucción de defectos con injertos autólogos y evolución a largo plazo.

Gout is the most common crystals arthropathy, it mainly affects men between 30 and 50 years old. Diagnosis is confirmed by the presence of hyperuricemia, gouty tophus, acute attacks of arthritis and/or chronic arthritis. Tophi are clusters of urate crystals that area located mainly in the joints of the extremities, they rarely occur in the nose. In the literature have been published three cases of nasal tophi in the last 50 years. We report two cases of male patients 54 and 60 years old with nasal tophi. Emphasis is placed on the clinical findings, surgical resection, structural sequelae on the nasal dorsum, reconstruction with autologous grafts and long-term evolution.

[Uricosuric agent].

Urate lowering treatment is indicated in patients with recurrent acute attacks, tophi, gouty arthropathy, radiographic changes of gout, multiple joint involvement, or associated uric acid nephrolithiasis. Uricosuric agents like benzbromarone and probenecid are very useful to treat hyperuricemia as well as allopurinol (xanthine oxidase inhibitor). Uricosuric agents act the urate lowering effect through blocking the URAT1, an urate transporter, in brush border of renal proximal tubular cells. In order to avoid the nephrotoxicity and urolithiasis due to increasing of urinary urate excretion by using uricosuric agents, the proper urinary tract management (enough urine volume and correction of aciduria) should be performed.

Gout nodulosis: widespread subcutaneous deposits without gout.

Subcutaneous tophaceous deposits of monosodium urate, in the absence of arthritis, may occasionally occur as the initial manifestation of gout. In this report, we describe a 35-year-old man who presented with a 6-year history of multiple subcutaneous nodules and no history of previous articular complaints. Needle aspirations of the nodules proved them to be deposits of monosodium urate. A literature search revealed 28 other cases with a similar presentation. We propose the term "gout nodulosis" as a clinical entity at one end of the spectrum of gout to describe this group of patients.

Nodulosis gotosa: una entidad nodulosa o patológica?

Los nódulos subcutáneos están presentes en múltiples enfermedades sistémicas incluyendo lupus eritematoso sistémico, fiebre reumática, artritis reumatoidea y gota. Llamamos la atención sobre aquellos pacientes con tofos subcutáneos múltiples por depósito de urato monosódico sin historia de artritis gotosa. Presentamos un caso de un hombre con presencia de nódulos subcutáneos indoloros de seis años de evolución en carpos, metacarpofalángicas, interfalángicas proximales, codos y rodillas, sin antecedentes de artritis. Planteamos la existencia de un subgrupo clínico de pacientes con gota, cuyo curso es más benigno con respecto al compromiso articular y se proponen sus criterios clínicos

An approach to hyperuricemia and gout.

Arthrocentesis and patient and family histories make gout relatively easy to diagnose. The next step is to distinguish between primary and secondary hyperuricemia. Hyperuricemia results from either impaired renal excretion or excessive production of uric acid--or both. Determining the cause guides the choice of therapy.