Molecular 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...
Extraintestinal 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. Ur...
The 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 hemod...
Can 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.