9 documents found, page 1 of 1

Autosomal Dominant Polycystic Kidney Disease Inflammation Biomarkers in the Tol...

With the approval of tolvaptan as the first specific medicine for the treatment of rapidly progressive Autosomal Dominant Polycystic Kidney Disease (ADPKD), biomarker discovery has gained renewed interest as it is widely recognized that these will be crucial in clinical decision-making, serving as either prognostic or predictive tools. Since the marketing authorization was first issued in 2015 for ADPKD, tolvap...

Autosomal Dominant Polycystic Kidney Disease Inflammation Biomarkers in the Tol...

With the approval of tolvaptan as the first specific medicine for the treatment of rapidly progressive Autosomal Dominant Polycystic Kidney Disease (ADPKD), biomarker discovery has gained renewed interest as it is widely recognized that these will be crucial in clinical decision-making, serving as either prognostic or predictive tools. Since the marketing authorization was first issued in 2015 for ADPKD, tolvap...

Chronic Kidney Disease: a practical guide (ACT-NAU)

Genotype-Phenotype Correlations and Clinical Outcomes of Genetic TRPC6 Podocyto...

© The Author(s) 2025. Published by Oxford University Press on behalf of the ERA.; BACKGROUND AND HYPOTHESIS: Podocytopathy associated with likely pathogenic/pathogenic variants of TRPC6 (TRPC6-AP) has been recognised for about 20 years. As a result of its rarity however, the spectrum of clinical phenotypes and genotype-phenotype correlation of TRPC6-AP remains poorly understood. Here, we characterised clinical,...

Doença renal crónica: um guia prático (ACT-NAU)

A doença renal crónica (DRC) é um importante problema de saúde pública que está associada ao aumento da morbimortalidade global e é um fator de risco significativo para a doença cardiovascular. A prevalência da DRC tem aumentado exponencialmente em todo o mundo. A sua prevalência em Portugal é de 20,9% nos estádios 1 a 5 da DRC e de 9,8% para os estádios ≥G3a/A1 da DRC, pelo que é de extrema importância que est...

Bi-Allelic Variants in COQ8B, a Gene Involved in the Biosynthesis of Coenzyme Q...

Retinitis pigmentosa (RP) is a Mendelian disease characterized by gradual loss of vision, due to the progressive degeneration of retinal cells. Genetically, it is highly heterogeneous, with pathogenic variants identified in more than 100 genes so far. Following a large-scale sequencing screening, we identified five individuals (four families) with recessive and non-syndromic RP, carrying as well bi-allelic DNA ...

Efeito da empagliflozina para além do controlo glicémico: benefício cardiovascu...

A prevalência da diabetes mellitus tipo 2 (DMT2) continua a aumentar e a sua associação com a doença cardiovascular (CV) tem levado à incorporação e valorização de endpoints CV nos ensaios clínicos sobre o tratamento da DMT2. Este artigo faz uma revisão dos vários ensaios já realizados e em desenvolvimento, neste âmbito, com especial enfoque no estudo EMPA‐REG OUTCOME. Neste estudo, a empagliflozina, um inibido...

Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as he...

Thrombotic microangiopathy (TMA) syndromes can be secondary to a multitude of different diseases. Most can be identified with a systematic approach and, when excluded, TMA is generally attributed to a dysregulation in the activity of the complement alternative pathways-atypical hemolytic uremic syndrome (aHUS). We present a challenging case of a 19-year-old woman who presented with thrombotic microangiopathy, w...

Empagliflozina e a nova era no tratamento da diabetes tipo 2: para além do cont...

A diabetes mellitus tipo 2 (DMT2) tem associado um risco aumentado de mortalidade, principalmente, por doença cardiovascular (DCV). Interessa ter disponíveis opções terapêuticas que permitam o controlo glicémico mas que considerem, igualmente, a atuação sobre fatores de risco cardiovascular e a redução de eventos micro e macrovasculares. Nos últimos anos foram desenvolvidos vários inibidores do transporte renal...