José Durães

Collapsing focal segmental glomerulosclerosis due to SARS-CoV-2: A scary diagnosis

Carolina Freitas Henriques, José Durães, Luís Resende, Rubina Miranda et autres

ABSTRACT Collapsing focal segmental glomerulosclerosis (collapsing FSGS) is a rare morphological variant of focal and segmental glomerulosclerosis characterized by collapse of the glomerular capillaries, podocytes hypertrophy and hyperplasia and severe tubulointerstitial disease. The pathogenesis is still unclear and multiple conditions as viral …

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#6746 SAFETY OF ANGIOTENSIN RECEPTOR-NEPRILISIN INHIBITOR IN PERITONEAL DIALYSIS PATIENTS WITH HEART FAILURE: A MULTI-CENTER COHORT STUDY

Gonçalo Pimenta, Rita Afonso, Ana Carlota Vida, S Maltes et autres

Abstract Background and Aims Sacubitril/valsartan, the first approved angiotensin receptor neprilisin inhibitor (ARNi), is the current cornerstone in the treatment of heart failure with reduced ejection fraction (HFrEF), reducing hospitalizations and mortality. However, in patients with chronic kidney disease stage 5D, who …

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Salmonella peritonitis in an automated peritoneal dialysis patient

João Carvão, Luís Resende, Carlota Vida, Francisca Silva et autres

Peritonitis remains one of the main complications of peritoneal dialysis (PD) and one of the main reasons for abandoning this treatment and switching to hemodialysis.It also accounts for considerable mortality and hospitalization among PD patients.Most cases of peritonitis related to PD result …

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Salmonella peritonitis in an automated peritoneal dialysis patient

João Carvão, Luís Resende, Carlota Vida, Francisca Silva et autres

Peritonitis remains one of the main complications of peritoneal dialysis (PD) and one of the main reasons for abandoning this treatment and switching to hemodialysis.It also accounts for considerable mortality and hospitalization among PD patients.Most cases of peritonitis related to PD result …

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MO061IS THE PM290I MUTATION RELATED TO ORGAN INVOLVEMENT OF FABRY DISEASE?

Francisca Silva, Nicole Pestana, José Durães, Nuno Guimarães Rosa et autres

Abstract Background and Aims Fabry disease (FD) is an X-linked hereditary disease. It results from mutations in the GLA gene, leading to deficient activity of the enzyme alpha-galactosidase A and progressive accumulation of undegraded glycosphingolipids in cell lysosomes. Enzyme replacement therapy improved …

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Fabry disease in patients under dialysis: A screening study and identification of a novel mutation

Nicole Pestana, José Durães, Nuno Guimarães Rosa, Gil Silva

Fabry disease (FD) is a rare systemic disease, with a large spectrum of disease severity. A GLA gene mutation in X -chromosome leads to progressive accumulation of globotriaosylceramide (Gb3) in various organs. We screened all patients under dialysis from a single center …

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Fabry Disease p.M290I Mutation is Related to Organ Involvement: A Case Report

Francisca Silva, Nicole Pestana, José Durães, Nuno Guimarães Rosa et autres

Fabry disease (FD) is an X-linked hereditary disease. It results from mutations in the GLA gene, leading to deficient activity of the enzyme alpha-galactosidase A (α-Gal A) and progressive accumulation of undegraded glycosphingolipids in cell lysosomes. Enzyme replacement therapy (ERT) can improve …

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Novel GLA T194A variant causes Fabry disease

Maria Nicole Pestana, Francisca Silva, José Durães, Gil Silva

Fabry disease (FD) is an X-linked, systemic lysosomal deposition disease caused by alpha-galactosidase A (AGAL) enzyme deficiency deriving out of changes on the GLA gene. Though several mutations have been described, one must consider that even a specific mutation may present with …

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Celiac Disease as a Rare Cause of Membranous Nephropathy: A Case Report

Nicole Pestana, Carlota Vida, Pedro Vieira, José Durães et autres

Membranous nephropathy is the most common cause of nephrotic syndrome in adults. A non-negligible number of cases are associated with systemic conditions. We report a case of a 50-year-old man who presented with nephrotic syndrome six months after being diagnosed with celiac …

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IgA dominant glomerulonephritis associated to staphylococcus infection: a peculiar case report

Nicole Pestana, Francisca Silva, Pedro L. Vieira, Ricardo Figueira et autres

IgA dominant glomerulonephritis associated to Staphylococcus infection is a rare clinical entity that has been described mainly in case reports.Biopsy features can resemble other disease entities mainly IgA nephropathy and Henoch -Schönlein purpura nephritis.Treatment of IgA dominant glomerulonephritis associated to staphylococcal infection …

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Rare aetiology of obstructive kidney injury: Bilateral ureteral endometriosis

Maria Inês Correia, Pedro Vieira, António Moura Gonçalves, José Durães et autres

Endometriosis is highly prevalent in women at the reproductive age, ranging from 6-10%, though ureteral involvement is rare, only seen in 0.1% of the cases, but may lead to urinary tract obstruction with potential renal function loss. As endometriosis has a non-specific …

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Carcinoma da tiroide: incidental e não incidental

Rute Ferreira, Filipa Serra, Catarina Moniz, Ricardo Fonseca et autres