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- 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.
- 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).
- Salmonella peritonitis in an automated peritoneal dialysis patient- Case reportPublication . Carvão, João; Resende, Luís; Vida, Carlota; Silva, Francisca; Durães, José; Silva, GilPeritonitis 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 from the contamination caused by the poor management of the Tenckhoff catheter by the patient or care-provider. The most frequently associated agents are coagulase-negative Staphylococcus and Staphylococcus aureus. However, Gram-negative bacteria and fungi may also be the cause of peritonitis.1 Salmonella is an intracellular pathogen member of the Enterobacteriaceae family, and it is an extremely rare agent causing peritonitis (0.15%),2 with the particularity of being an extremely complicated organism to eradicate,3 and in most of the cases described, it was necessary to remove the Tenckhoff catheter. Literature is scarce on the ideal therapeutic approach….etc.
- Homozygous C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene with hyperhomocysteinaemia associated with lupus anticoagulant in a chronic peritoneal dialysis patient with cerebral venous thrombosis- Case ReportPublication . Guimaraes, Nuno; Silva, Sónia; Branco, Patrícia; Almeida, Edgar de; Canhão, Patrícia; Barbas, José; Gomes da Costa, A.; Prata, M. MartinsWe report a case of a cerebral venous thrombosis (CVT) in a chronic kidney disease patient with three CVT predisposing conditions. A 53 year-old woman on chronic peritoneal dialysis presented to the emergency department with acute headache and vertigo. The neurological examination and head CT scan performed at the emergency department were normal but, three days later, a lateral gait deviation and a horizontal nystagmus were identified. A brain MRI and MRI-venogram confirmed a left lateral sinus thrombosis. Hormonal replacement therapy (HRT), a positive lupus anticoagulante and a homozygous mutation on the methylenetetrahydrofolate reductase gene, with hyperhomocysteinaemia, were the three well-known prothrombotic conditions identified in this patient. HRT was discontinued, the patient started anticoagulation with warfarin and folic acid supplementation and was discharged, 10 days after admission, complaining of a mild vertigo. After six months of therapy the patient had vertigo improvement and maintained a positive lupus anticoagulant. The head MRI and MRI-venography showed a thrombus reduction.
- RabdomiólisePublication . Rodrigues, Fernando; Araújo, José AugustoINTRODUÇÃO A rabdomiólise é definida como uma síndrome clínico--laboratorial que decorre da lise das células musculares esqueléticas, com a libertação de substâncias intracelulares para a circulação. A maioria dos casos de rabdomiólise está relacionada com o consumo de álcool, actividade convulsiva e compressão muscular, por imobilização prolongada e depressão do estado de consciência1. O crush syndrome é outra causa importante de miólise. Neste caso, a destruição muscular decorre da compressão traumática e sobretudo da lesão de reperfusão, no contexto de acidentes de viação ou grandes catástrofes naturais (e.g. terramotos). O diagnóstico e a terapêutica precoces são fundamentais para evitar a progressão para insuficiência renal aguda RA) oligúrica e a necessidade de terapêutica dialítica que se associa a morbilidade e custos não desprezíveis
- Iliac artery false aneurysm twelve years after allograft nephrectomyPublication . Guimarães Rosa, Nuno; Silva, Sónia; Jorge, Sofia; Branco, Patricia; Inácio, João; Barbas, José; Gomes da Costa, A; Martins Prata, MWe report a case of a non-infected right external iliac artery false aneurysm. The patient was a 44 year-old woman on chronic peritoneal dialysis had had an allograft nephrectomy 12 years before and who presented with acute abdominal pain. Ultrasound and CT-scan showed a saccular aneurysm arising from the right external iliac artery. A large false aneurysm was identified during surgery, from donor arterial vessel remaining in situ after graft nephrectomy. Resection of the false aneurysm, with ligation of the right external iliac artery and interposition of a femorofemoral graft was successfully performed, with an uneventful post-operative recovery. False aneurysms after renal allograft nephrectomy are very rare. To our knowledge, this is the longest reported period of time between na nephrectomy and clinical evidence of a false aneurysm.
- Fungal peritonitis in peritoneal dialysis patients: is previous antibiotic therapy an essential condition?Publication . Guimarães Rosa, Nuno; Silva, Sónia; Lopes, José António; Branco, Patrícia; de Almeida, Edgar; Ribeiro, Carlos; Abreu, Fernando; Barbas, José; Martins Prata, M.The aim of this study was to analyse the clinical and microbiological features of fungal peritonitis, in chronic peritoneal dialysis patients, focusing on non-traditional risk factors for this feared complication. From 2001 to 2004, five episodes of fungal peritonitis were diagnosed in five different patients, accounting for 4.5% of all peritonitis cases seen during this period. Candida spp. were the most frequent isolates. In all cases, peritoneal dialysis catheter removal and switching to haemodialysis were necessary. In these five cases of fungal peritonitis only one was preceded by antibiotic use, within the previous 3 months, the classical risk factor for fungal peritonitis. Identifying predisposing factors usually not taken into account, may lead to an early diagnosis and to a better understanding of fungal peritonitis pathogenesis.
- Main Determinants of PON1 Activity in Hemodialysis PatientsPublication . Ribeiro, Sandra; do Sameiro Faria, Maria; Mascarenhas-Melo, Filipa; Freitas, Isabel; Mendonca, Maria Isabel; Nascimento, Henrique; Rocha-Pereira, Petronila; Miranda, Vasco; Mendonça, Denisa; Quintanilha, Alexandre; Belo, Luís; Costa, Elísio; Reis, Flávio; Santos-Silva, AliceCardiovascular diseases are the major cause of morbidity and mortality in hemodialysis (HD) patients. These patients present reduced paraoxonase 1 (PON1) activity that depends on genetic and non-genetic factors; however, how these factors influence PON1 activity in HD patients is poorly clarified. Our aim was to evaluate the influence of two polymorphisms and non-genetic factors on PON1 activity in HD patients.
- Blood pressure and phosphate level in diabetic and non-diabetic kidney disease: Results of the cross-sectional “Low Clearance Consultation” studyPublication . Mendes, Margarida; Resende, Luis; Teixeira, Alves; Correia, João; Silva, GilA statistically significant and moderate positive correlation was verified between systolic blood pressure and plasma phosphate concentration in the whole sample (diabetic and non-diabetic), due to the diabetic chronic kidney disease group.A statistically significant and moderate positive correlation was verified between the diastolic blood pressure and plasma phosphate concentration in the whole sample (diabetic and non-diabetic), due to the diabetic chronic kidney disease group.A statistically significant and strong negative correlation was found between diastolic blood pressure and estimated glomerular filtration rate in the diabetic chronic kidney disease group, but there was no statistically significant correlation in the whole sample (diabetic and non-diabetic).
- 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.
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