Browsing by Author "Barata, R"
Now showing 1 - 6 of 6
Results Per Page
Sort Options
- Acute Kidney Injury in the Context of Inflammatory Bowel Disease - A Clinical CasePublication . Cristóvão Marques, J; Barata, R; Lemos Garcia, J; Navarro, D; Góis, M; Sousa, H; Cotovio, P; Ribeiro, F; Nolasco, FExtraintestinal manifestations of inflammatory bowel disease are common and extendable to all organs. Kidney and lower genitourinary system occurs in 4-23% of cases. This may be dependent on inflammatory bowel disease activity, secondary to metabolic disorders, drugs or others. We present a case of a 68-year-old man with ulcerative colitis for 22 years admitted in our department for acute nephritic syndrome. Urinary microscopy suggested glomerular injury. A kidney biopsy was performed and was compatible with acute interstitial nephritis and IgA nephropathy. Toxicity of mesalazine and glomerulonephritis secondary to ulcerative colitis were assumed. The patient suspended mesalazine and started prednisolone with clinical improvement. Our purpose is to sensitize the importance of having a prompt and thorough evaluation of acute kidney injury in patients with inflammatory bowel disease. We briefly review the broad spectrum of kidney manifestations in this population, focusing on mesalazine-induced nephrotoxicity.
- A Disease With Many FacesPublication . Caires, N; Campos Silva, S; Moreira, MI; Gerardo, R; Borba, A; Santos Silva, J; Barata, R; Pinto, E; Cardoso, JCan you diagnose this man with progressively worsening shortness of breath, mucous productive cough, weight loss, fatigue and a history of suspected pulmonary tuberculosis? http://bit.ly/2VUdnTr.
- Hepatitis B Virus Infection and the Kidney: a Wide Range of ManifestationsPublication . Barata, R; Alves, P; Assis Pereira, T; Góis, M; Viana, H; Nolasco, F
- Hyperuricemia in Chronic Kidney Disease: a Role Yet To Be ExplainedPublication . Barata, R; Cardoso, F; Assis Pereira, TThe role of uric acid as an independent risk factor for chronic kidney disease development and progression is still a matter of discussion. Several observational studies showed a positive association between hyperuricemia and the progression of kidney dysfunction, but others did not, which probably derived from different biases and studies insufficiencies. Moreover, the results from studies on patients in hemodialysis and peritoneal dialysis are even more controversial, with some evidence pointing towards a protective role of uric acid in hemodialysis patients, but not in peritoneal dialysis. In addition to most evidence suggesting a role of uric acid in chronic kidney disease pathogenesis and progression, pharmacological treatment of asymptomatic hyperuricemia is still not indicated, with no consensus on either the uric acid level at which treatment would be beneficial, or the target-level to achieve. There are several studies on the renal benefits of xanthine oxidase inhibitors allopurinol and febuxostat, with heterogeneous results. Most of them showed a renoprotective effect of both drugs, delaying renal disease progression. However, the different results found in other studies makes it difficult to draw definitive conclusions. Despite recent evidence pointing toward an important role of uric acid in the pathogenesis and progression of kidney disorders, and the benefits of its treatment, there are still several unanswered questions, and well-conducted studies are needed to make valid conclusions.
- Not the Usual SuspectPublication . Cardoso, F; Barata, R; Calado, J; Góis, M; Viana, H; Navarro, D; Mendes, M; Nolasco, F
- The Kidney Genetics Clinic: Delivering Precision Medicine for Kidney PatientsPublication . Calado, J; Barata, R; Lucas, R; Francisco, T; Gonçalves, R; Carrilho Ribeiro, N; Nolasco, FMolecular genetic testing in human traits has traditionally relied on affiliated academic facilities, been focused on specific phenotypes and supported by research funding. We report the experience of the Kidney Genetics Clinic (“consulta de Doenças Renais Hereditárias”) for the past 5 years, a period during which we have outsourced genetic testing. We evaluated the impact of molecular testing in patients’ care, but we also assessed disease‑specific imaging procedures and medicines provided. During the study period, 293 individuals were evaluated. Autosomal Dominant Polycystic Kidney Disease was the most frequent diagnosis (61.8%). In 125 patients, a genetic test was available, and for 76 of these (60.8%) a pathogenic/likely pathogenic variant was identified. Depending on the phenotype, the mutation detection rate ranged from 100% (Tuberous Sclerosis Complex) to 15.4% (Autosomal Dominant Tubulointerstitial Kidney Disease). The impact of genetic testing on patients’ diagnosis and treatments is discussed. Total kidney volume was calculated in 6 patients with Autosomal Dominant Polycystic Kidney Disease and the combined volume for selected angiomyolipoma monitored in 3 individuals with the Tuberous Sclerosis Complex. Currently, 4 patients are being treated with Everolimus/Votubia™, 3 with Eculizumab/Soliris™ and 2 with Tolvaptan/Jinarc™. Our results demonstrate the feasibility of genetic molecular testing in a clinical setting while relying on outsourced sites for gene testing. We emphasize that it was only because the Kidney Genetics Clinic was given the opportunity to look after several patients affected by the same specific orphan or rare diseases (cohort enrichment) that we were able to improve diagnostic skills and deliver personalized medicines.