Browsing by Author "Santos, J."
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- Acute tubulointersticial nephritis with uveitis: A report of two casesPublication . Silva, F.; Correia, S.; Castro, A.; Moreira, C.; Santos, S.; Malheiro, J.; Santos, J.; Martins, L.; Cabrita, A.Tubulointersticial nephritis and uveitis syndrome is an idiopathic and rare cause of acute kidney injury that should not overlooked, because it usually requires specific therapeutic interventions. We report two distinct cases: a young and an elder female. Both cases presented with unspecific constitutional symptoms but had different onset of renal and ocular involvement. Both were treated with topical and systemic corticoids and although there was a good initial response in both cases, an early relapse after steroids taper was observed in the younger patient and a persistent renal dysfunction in the older one. A high clinical suspicion and understanding of this disease is necessary for an adequate management and treatment of these patients. Recent data associates a worse renal prognosis when the disease appears in advanced age. In both of our cases the outcome was good but we had a short follow-up. The histological presentation of this disease in our older patient was similar to that reported in the literature, with a high percentage of fibrosis and chronicity of renal tissue that can contribute to the higher grade of renal dysfunction in this type of patients.
- ANCA-positive vasculitis: Clinical implications of ANCA types and titersPublication . Domingues, V.; Machado, B.; Santos, J.INTRODUCTION: Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis is an autoimmune disease that can affect multiple organs, the kidney being one of the most affected. Apart from the diagnostics value of ANCA, they have also been advocated as biomarkers of the disease activity. Recently, the genetic changes found in polyangiitis associated with serine-protease proteinase 3 (PR3)-ANCA or myeloperoxidase (MPO)-ANCA raised the possibility of immune-pathogenic and therapeutic differences. OBJECTIVE: To identify differences in the number of relapses, inflammatory markers, outcomes and renal histology related to the types of ANCA. To analyze the implications of ANCA titers in prognosis. METHOD: A retrospective observational study in a Portuguese tertiary hospital. RESULTS: There were no differences in the progression of renal function, histological pattern and initial treatment with regard to ANCA subtypes. As for the evaluated parameters, there were no significant differences according to the types of ANCA, except for mean CRP values within the normal range, which was 6.3±1.3 mg/L for MPO-ANCA and 12.4±10.14 mg/L for PR3-ANCA (p=0.04). We found that 66.7% of the MPO-ANCA-positive showed no relapses versus 40% in the case of PR3-ANCA-positive. There was no correlation between the ANCA titers at presentation, during remission, and in the last evaluation, and the number of relapses. CONCLUSION: PR3-ANCA patients have a mean CRP value within the normal range significantly higher than that of MPO-ANCA patients (p=0.04), which seems to reveal greater inflammatory activity in the first.
- Arterio-arterial graft – an option for hemodialysis patients with exhaustion of venous patrimonyPublication . Castro, A.; Almeida, P.; Silva, F.; Rego, D.; Tavares, J.; Santos, J.; Silva, F.; Queirós, J.; Cabrita, A.; Almeida, R.Introduction: Vascular access (VA) for hemodialysis (HD) is the lifeline for End Stage Renal Disease (ESRD) patients. Long-term HD patients often have exhaustion of their venous patrimony for an autologous VA construction and, sometimes, even for a central venous catheter (CVC) placement. Case report: We describe the case of a 43-year-old woman with ESRD due to lupus nephritis, on maintenance HD since 2009. She also had secondary antiphospholipid syndrome and was chronically anticoagulated. Nevertheless, the patient had multiorgan thrombotic events (without sequelae) and several episodes of irreversible thrombosis of arteriovenous fistulas. Her HD course was also marked by multiple severe CVC infections, at diferente locations; a hemoperitoneum during cholecystectomy, and an immediate thrombosis of the renal artery of a kidney transplant. She was admitted to our hospital after an irreversible dysfunction of a right jugular CVC, with documentation of thrombosis of the superior and inferior vena cava. Exhaustion of the venous patrimony for HD was assumed and it was decided to make an arterio-arterial graft (AAG) of early cannulation. The first cannulation of the AAG was performed two days after surgical intervention, with no complications. The patient performed a twelve hour per week HD treatment with good efficiency. Conclusion: AAG is an alternative for HD patients who have exhausted all their venous patrimony and it can be considered prior to the placement of a CVC as their sole remaining vascular access.
- Clinical Heterogeneity of Autosomal Recessive Spastic Paraplegias: Analysis of 106 Patients in 46 FamiliesPublication . Coutinho, P.; Barros, J.; Zemmouri, R.; Guimarães, J.; Alves, C.; Chorão, R.; Lourenço, E.; Ribeiro, P.; Loureiro, J.; Santos, J.; Hamri, A.; Paternotte, C.; Hazan, J.; Silva, M.; Prud'homme, F.; Grid, D.Background Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive and predominant spasticity of the lower limbs, in which dominant, recessive, and X-linked forms have been described. While autosomal dominant HSP has been extensively studied, autosomal recessive HSP is less well known and is considered a rare condition. Objective To analyze the clinical presentation in a large group of patients with autosomal recessive HSP from Portugal and Algeria to define homogeneous groups that could serve as a guide for future molecular studies. Results Clinical features in 106 patients belonging to 46 Portuguese and Algerian families with autosomal recessive HSP are presented, as well as the results of molecular studies in 23 of these families. Five phenotypes are defined: (1) pure early-onset families, (2) pure late-onset families, (3) complex families with mental retardation, (4) complex families with mental retardation and peripheral neuropathy, and (5) complex families with cerebellar ataxia. Six additional families have specific complex presentations, each of which is unique in the present series. Pyramidal signs in the upper limbs and pes cavus are frequent findings, while pseudobulbar signs, including dysarthria, dysphagia, and brisk jaw jerks, are more frequent in the complex forms. The complex forms have a poorer prognosis, while pure forms, particularly those with early onset, are more benign. One Algerian pure early-onset kindred was linked to the locus on chromosome 8, previously reported in 4 Tunisian families. Two of the Portuguese kindreds with complex forms (one with mental retardation and the other associated with hypoplasia of the corpus callosum) showed linkage to the locus recently identified on chromosome 16. Conclusions Although autosomal recessive HSP represents a heterogeneous group of diseases, some phenotypes can be defined by analyzing a large group of patients. The fact that only one Algerian family was linked to chromosome 8 suggests that this is a rare localization even in kindreds with the same ethnic background. Linkage to chromosome 16 was found in 2 clinically diverse Portuguese kindreds, illustrating that this locus is also rare and may correspond to different phenotypes.
- Diagnosis of monoclonal gammopathy of renal significancePublication . Correia, S.; Santos, S.; Martins, L.; Santos, J.Monoclonal gammopathies are a heterogeneous group of disorders characterized by clonal proliferation of immunoglobulin produced by B-lymphocytes or plasma cell clone. The term monoclonal gammopathy of renal significance (MGRS) was introduced to distinguish monoclonal gammopathies that result in the development of kidney disease from those that are benign. Screening for monoclonal immunoglobulin and an appropriate hematologic workup are fundamental and sometimes a difficult challenge, with therapeutic and prognostic implications. Kidney biopsy is essential to determine the exact nature of the lesion and to evaluate the severity of renal disease. In this review we discuss the clinical and pathologic features of MGRS, highlighting the most diagnostic difficulties and current therapeutic options.
- Estimating glomerular filtration rate in kidney transplantation: Still searching for the best markerPublication . Santos, J.; Martins, L.Kidney transplantation is the treatment of choice for end-stage renal disease. The evaluation of graft function is mandatory in the management of renal transplant recipients. Glomerular filtration rate (GFR), is generally considered the best index of graft function and also a predictor of graft and patient survival. However GFR measurement using inulin clearance, the gold standard for its measurement and exogenous markers such as radiolabeled isotopes ((51)Cr EDTA, (99m)Tc DTPA or (125)I Iothalamate) and non-radioactive contrast agents (Iothalamate or Iohexol), is laborious as well as expensive, being rarely used in clinical practice. Therefore, endogenous markers, such as serum creatinine or cystatin C, are used to estimate kidney function, and equations using these markers adjusted to other variables, mainly demographic, are an attempt to improve accuracy in estimation of GFR (eGFR). Nevertheless, there is some concern about the inability of the available eGFR equations to accurately identify changes in GFR, in kidney transplant recipients. This article will review and discuss the performance and limitations of these endogenous markers and their equations as estimators of GFR in the kidney transplant recipients, and their ability in predicting significant clinical outcomes.
- Homozygosity for the E526V Mutation in Fibrinogen A Alpha-Chain Amyloidosis: The First ReportPublication . Tavares, I.; Lobato, L.; Matos, C.; Santos, J.; Moreira, P.; Saraiva, M.; Castro Henriques, A.Systemic hereditary amyloidoses are autosomal dominant diseases associated with mutations in genes encoding ten different proteins. The clinical phenotype has implications on therapeutic approach, but it is commonly variable and largely dependent on the type of mutation. Except for rare cases involving gelsolin or transthyretin, patients are heterozygous for the amyloidogenic variants. Here we describe the first patient identified worldwide as homozygous for a nephropathic amyloidosis, involving the fibrinogen variant associated with the fibrinogen alpha-chain E526V (p.Glu545Val) mutation. In 1989, a 44-year-old woman presented with hypertension, hepatosplenomegaly, nephrotic syndrome, and renal failure. She started hemodialysis in 1990 and 6 years later underwent isolated kidney transplantation from a deceased donor. Graft function and clinical status were unremarkable for 16 years, despite progressively increased left ventricular mass on echocardiography. In 2012, 4 months before death, she deteriorated rapidly with severe heart failure, precipitated by Clostridium difficile colitis and urosepsis. Affected family members developed nephropathy, on average, nearly three decades later, which may be explained by the gene dosage effects on the phenotype of E526V (p.Glu545Val) fibrinogen A alpha-chain amyloidosis.
- Impact Assessment in Living Kidney Donation: Psychosocial AspectsPublication . Frade, I.C.; Fonseca, Isabel; Dias, L.; Henriques, A.C.; Martins, La Salete; Santos, J.; Sarmento, M.; Lopes, A.ABSTRACT Background. Living donor kidney transplantation has positive influence on graft survival and recipient quality of life (QoL)We assessed the psychosocial impact of donation to the donor. Methods. Before and after the procedure 32 living kidney donors (mean age 41 years) completed the Zung Self-Rating Anxiety and Depression Scales; Sociodemographic, Short-Form 36 Health Survey (SF-36)and Donation Perceptions Questionnaire. Results. Living kidney donors were siblings (62.5%)parents (34.4%)or daughter (3.1%)Transplantation was not successful in two cases: one recipient death and one graft failure. No significant changes were observed in donor QoL except for the SF-36 social functioning subscale that showed significant improvement after donation (.038) reduction in depression symptom frequency was verified after donation (from 65.6% to 46.9%)There was an almost significant decrease in depression scores (.077)which was in fact was significant when one considered only successful transplants (.021)There was no significant variation in anxiety scores among donors. Time since transplantation was inversely correlated with overall anxiety (.443, .011)and with somatic anxiety subscales (.357, .045)For most donors, the decision to donate was easy and spontaneous. Nearly all donors would donate again and strongly encourage others to donate. Conclusions. Except for the social functioning scale that improved, no significant changes were observed in QoL of living kidney donors after the procedure. Depression scores significantly decreased after donation, but anxiety scores remained stable. Donors, who were mostly siblings, showed positive perceptions about donation, did not regret their decision, and strongly recommend it to others.
- Incorporating Scoring Risk Models for Care Planning of the Elderly with Chronic Kidney DiseasePublication . Santos, J.; Fonseca, IsabelMortality in chronic kidney disease remains high, particularly among the elderly, who represent the most rapidly growing segment of the end-stage renal disease population in wealthier countries. The management of older adults with chronic kidney disease has become a clinical challenge, and care for those patients expected to progress to end-stage renal disease should focus on evaluating the overall benefit of offering renal replacement therapy to them. Predictive mortality models may help to inform shared decision-making in the trajectory of the elderly with chronic kidney disease. This review discusses current literature on the available predictive models for predicting survival in elderly chronic kidney disease patients and reflects the author's own interpretation and experience.