Percorrer por autor "Pestana, Nicole"
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- Celiac Disease as a Rare Cause of Membranous Nephropathy: A Case ReportPublication . Pestana, Nicole; Vida, Carlota; Durães, José; Silva, Gil; Vieira, PedroMembranous 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 disease. Although the patient showed disappearance of circulating immunoglobulin A (IgA) anti-tissue transglutaminase antibodies following a gluten-free diet, he had a sudden onset of nephrotic syndrome presenting with severe hypoalbuminemia. Other secondary causes were promptly excluded leading to the assumption of celiac disease-associated membranous nephropathy with remission after treatment with angiotensin system blockade and a gluten-free diet. The goal of this case report is to alert the clinic towards this rare association aiming for an early diagnosis and adequate selection of long-term therapy.
- Fabry disease in patients under dialysis: A screening study and identification of a novel mutationPublication . Silva, Francisca Gomes; Pestana, Nicole; Durães, José; Silva, GilFabry 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 for GLA gene changes. Enzymatic activity of alpha galactosidase A (α‑Gal A) and concentration of lyso‑Gb3 were determined in dried blood spots. Genetic study was performed in male patients with low α‑Gal A activity and in all female subjects. For all positive patients, a complete family study was performed. A total of 72 dialysis patients were screened. Sequence analysis was carried out in 53 patients (25 males). Heterozygous variants of the GLA gene were found in 4 patients (7.5%): c.937G>T (D313Y) in exon 6; c.352C>T (R118C) in exon 2; c.870G>C (M290I) in exon 6 and c.580A>G (T194A) in exon 4. Family screening was performed in a total of 17 subjects, with a GLA genetic variant prevalence of 58.8%. Unlike p.D313Y and p.R118C, well‑known non‑pathogenic polymorphisms, p.M290I is a controversial poorly described mutation. Reports about its phenotypic expression are crucial for a better understanding of its behavior. The recognition of the novel mutation p.T194A is importante for better knowledge of FD and its spectrum of clinical manifestations. These affected patients are expected to develop a classic and life‑threatening FD phenotype and an early diagnosis is essential for their treatment success.
- IgA dominant glomerulonephritis associated to staphylococcus infection: a peculiar case reportPublication . Pestana, Nicole; Vieira, Pedro; Silva, Francisca; Figueira, José Ricardo; Silva, Gil; Durães, JoséIgA 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 is based on antibiotics for the underlying infection, controlling hypertension and edema and may resort to concomitant use of steroids in selected cases. Prognosis markers such as hypertension, diabetes and interstitial fibrosis may influence treatment as they are associated with poor renal outcomes. We report a case of a 63‑year‑old man with known hypertension, pre‑diabetes and recent history of methicillin‐sensitive staphylococcus aureus bacteremia associated to prostatitis, who presented with a one‑month history of edema, arthralgia and foamy urine. Over this period he progressed to anasarca and nephrotic range proteinuria with concomitant rise in creatinine levels being documented. The renal biopsy showed segmental endocapillary proliferation and IgA segmental dominant staining associated to C3 and lambda in minor distribution. On completion of two months of steroid therapy the patient partially recovered his renal function and proteinuria. After nine months of tapering steroids, he presented with acute inflammatory arthritis supporting an inflammatory background disease. To our knowledge this case describes an unusual entity such as IgA dominant glomerulonephritis associated to staphylococcal infection co‑presenting with an associated reactive arthritis.
- Impact of Pancreatic Autoantibodies in Pancreas Graft Survival After Pancreas-Kidney TransplantationPublication . Pestana, Nicole; Malheiro, Jorge; Silva, Filipa; Silva, Andreia; Ribeiro, Catarina; Pedroso, Sofia; Almeida, Manuela; Dias, Leonídio; Henriques, António Castro; Martins, La SaleteIn simultaneous pancreas-kidney transplantation (SPKT), persistence or recurrence of pancreatic autoantibodies (PAs) has been associated with pancreas graft (PG) autoimmune-driven injury. Our aim was to analyze the impact of PAs on PG survival.Methods. Between January 1, 2000, and December 31, 2017, we studied 139 patients with post-SPKT antieglutamic acid decarboxylase (GAD) autoantibody. Alloimmune (ALI) events were defined as PG rejection and/or de novo donor-specific antibodies (DSA).Hence, 3 groups were defined: patients without ALI events or anti-GAD (n ¼ 42), those with ALI events (n ¼ 14), or those only with autoimmune events (positive for anti-GAD and no ALI events; n ¼ 83). Results. Male sex was predominant (n ¼ 72, 52%). Median age was 35 years (interquartile range: 31-39) and median follow-up was 6-7 years (interquartile range: 4.1-9.2). Regarding anti-GAD positivity post-SPKT (n ¼ 90, 65%), no differences were observed concerning age, sex, anti-HLA antibodies, HLA mismatch number and de novo DSA. ALI events were present in 10% (n ¼ 14). PG survival 15 years post-SPKT was better in patients without immune events (96%) followed by those with ALI (69%) and autoimmune events (63%) (P ¼ .025). Anti-GAD was associated to higher annualized mean Hb1AC (P ¼ .006) and lower mean C-peptide (P ¼ .013). According to pre- and post-SPKT anti-GAD status, conversion from negative to positive was associated to worse (63%) 10-year PG survival (P ¼ .044), compared to persistence of negative (100%) or positive anti-GAD (88%). Anti-islet cell and anti-insulin autoantibodies had no impact. Conclusion. Anti-GAD presence post-SPKT was associated to higher pâncreas disfunction and lower PG survival. De novo anti-GAD seems to offer a particular risk of PG failure.
- A new millennium for women and kidney diseasePublication . Pestana, Nicole; Vieira, Pedro; Silva, GilIntroduction: Taking advantage of this year’s synergy, as World Kidney Day (WKD) and International Women’s Day fall on the same day, the theme chosen for WKD 2018 was “Kidneys and Women’s health”, drawing the attention of the nephrology community to the special features of diseases of the kidney as they affect women. When focusing on this subject, we come to see the major gaps in this area of knowledge. On one hand, it is now comprehensively accepted that there are unique biological and behavioral differences resulting in sex/gender variances, albeit mostly in favour of women. However, on the other, despite mounting evidence in multiple medical disciplines, these disparities have not been so well explored in nephrology, and so we try, in this editorial, to review current knowledge n this field.
- Obstructiva Acute Kidney Injury with maintenance of diuresis: A Case of Ureter BifidityPublication . Silva, Francisca Gomes da; Rosa, Nuno; Pestana, Nicole; Silva, GilPercutaneous kidney biopsy in transplanted kidneys remains an essential and commonly performed procedure required for diagnostic and prognostic information. Hemorrhage is the main complication of renal graft biopsy. We report a case of a 47-year-old caucasian woman admitted to perform an ultrasound (US)-guided biopsy of the renal graft. Six hours later, she presented with macroscopic hematuria which improved after urethral catheterization and intravenous hydration. However the hematuria reappeared associated with anemia and worsening of the serum creatinine value. Te US study, revealed hydronephrosis with high Doppler derived renal resistive index compatible with clot obstruction. Despite the vesical lavage nd intravenous hydration. However the hematuria reappeared associated with anemia and worsening of the serum creatinine value. Te US study, revealed hydronephrosis with high Doppler derived renal resistive index compatible with clot obstruction. Despite the vesical lavage with drainage of several clots, the patient rapidly progressed to hemorrhagic shock with worsening of renal function. Pelvic computed tomography (CT) revealed calyx and pelvis duplicity and ureter bifdity which merged into a single ureter and inserted into the right anterolateral wall of the bladder. Te inferior ureter was enlarged due to an obstructive clot. Most acute obstructive uropathies are associated with signifcant pain or the abrupt diminution of urine fow. Te presence of ureter bifdity in the CT study explained the maintenance of signifcant diuresis despite obstruction, located only to the lower ureter but with sufcient functional impact to condition acute kidney injury (AKI).