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- 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).
- 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.
- 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.
- 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.