LILACS – Literatura Latinoamericana y del Caribe de Ciencias de la Salud

Rare inherited kidney diseases: an evolving field in Nephrology

Cunha, Mariana Faucz Munhoz da; Sevignani, Gabriela; Pavanelli, Giovana Memari; Carvalho, Mauricio de; Barreto, Fellype Carvalho.

J. bras. nefrol; 42 (2), 2020

Abstract There are more than 150 different rare genetic kidney diseases. They can be classified according to diagnostic findings as (i) disorders of growth and structure, (ii) glomerular diseases, (iii) tubular, and (iv) metabolic diseases. In recent years, there has been a shift of paradigm in this fiel...

Enfermedad de Fabry/diagnóstico, Enfermedad de Fabry/genética, Enfermedad de Fabry/terapia, Enfermedades Genéticas Congénitas/diagnóstico, Enfermedades Genéticas Congénitas/genética, Pruebas Genéticas/métodos, Tasa de Filtración Glomerular/fisiología, Pérdida Auditiva Sensorineural/diagnóstico, Comunicación Interdisciplinaria, Riñón/fisiopatología, Enfermedades Renales/congénito, Enfermedades Renales/diagnóstico, Túbulos Renales/patología, Enfermedades Metabólicas/patología, Nefrología/normas, Trombocitopenia/congénito, Esclerosis Tuberosa/terapia, Trombocitopenia/terapia, Trombocitopenia/diagnóstico

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NLRP3 inflammasome in metabolic syndrome

Metabolic syndrome (MS) is a serious health problem worldwide; it is characterized by a group of metabolic disorders, including central obesity, insulin resistance/type 2 diabetes, hyperlipidemia with accelerated atherosclerosis, hypertension, non-alcoholic fatty liver disease, and elevated uric acid wit...