Repositório do Hospital Prof. Doutor Fernando Fonseca
The Hospital Prof. Dr. Fernando Fonseca E.P.E. (HFF) institutional repository collects, preserves and disseminates the intellectual output of its professionals in digital format. Its aims are to increase the HFF’s investigation visibility and citation impact, to foster scientific communication and to preserve the HFF’s intellectual memory.
Demographic and clinical characteristics of patients receiving dialysis in Portugal: a nationwide multicentre survey - Lopes, J; Abreu, F; Almeida, E; Carvalho, B; Carmo, C; Carvalho, D; Barber, E; Costa, F; Silva, G; Boquinhas, H; Silva, J; Inchaustegui, L; Dias, L; Batista, M; Neves, P; Mendes, T
Background. Data on human immunodeficiency
virus (HIV) infected patients receiving
dialysis in Portugal is scarce.
Methods. This nationwide epidemiological
survey retrospectively evaluates HIV-infected
patients on chronic dialysis in Portugal between 1997 and 2002.
Results. Sixty-six patients were evaluated (mean age: 39.1±1.6 years, 47 men, 35 black
African). Sixty-two patients started dialysis and 4 patients who were receiving dialysis had HIV seroconversion. Eighty-five percent of patients were treated in Lisbon. The annual incidence of HIV-infected patients on chronic dialysis was 0.5% in 1997 and 0.9% in 2002. Seventy-eight
percent of patients were HIV-1 infected , 13%
had hepatitis B and 31% hepatitis C. Sexual
contact was the mode of transmission of...
Model-based analysis of FGF23 regulation in chronic kidney disease - Yokota, H; Pires, A; Raposo, J; Ferreira, H
The mechanism of FGF23 action in calcium/phosphorus metabolism of patients with chronic kidney disease (CKD) was studied using a mathematical model and clinical data in a public domain. We have previously built a physiological model that describes interactions of PTH, calcitriol, and FGF23 in mineral metabolism encompassing organs such as bone, intestine, kidney, and parathyroid glands. Since an elevated FGF23 level in serum is a characteristic symptom of CKD patients, we evaluate herein potential metabolic alterations in response to administration of a neutralizing antibody against FGF23. Using the parameters identified from available clinical data, we observed that a transient decrease...
A mathematical model of calcium and phosphorus metabolism in two forms of hyperparathyroidism. - Raposo, J; Pires, A; Yokota, H; Ferreira, H
Parathyroid hormone (PTH) plays a critical role in calcium and phosphorus metabolism. Interestingly, in two forms of hyperparathyroidism (excessive amount of PTH in the serum), the metabolic disturbances in patients with chronic kidney disease (CKD) significantly differ from those with primary hyperparathyroidism (PHP). Since an intuitive understanding of these PTH-linked regulatory mechanisms are hardly possible, we developed a mathematical model using clinical data (1586 CKD and 40 PHP patients). The model was composed of a set of ordinary differential equations, in which the regulatory mechanism of PTH together with other key factors such as 1,25-Dihydroxyvitamin D (1,25(OH)₂D) and calcium was...
Cystatin C as a marker of acute kidney injury in the emergency department - Soto, K; Coelho, S; Rodrigues, B; Martins, H; Frade, F; Lopes, S; Cunha, L; Papoila, A; Devarajan, P
BACKGROUND AND OBJECTIVES: The diagnosis of acute kidney injury (AKI) is usually based on changes in serum creatinine, which is a poor marker of early renal dysfunction. The discriminative and predictive abilities of serum and urinary cystatin C were examined for the prediction of AKI.
DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: In this prospective cohort study, serum and urinary cystatin C were serially measured in a heterogeneous group of patients (n = 616) presenting to a tertiary care emergency department. The primary outcome was AKI, classified according to RIFLE and AKIN criteria. The secondary outcome was an adjudication based on clinical criteria...
Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria. - Calado, J; Soto, K; Clemente, C; Correia, P; Rueff, J
Familial renal glucosuria is an inherited renal tubular disorder. A homozygous nonsense mutation in the SLC5A2 gene, encoding the sodium/glucose co-transporter SGLT2, has recently been identified in an affected child of consanguineous parents. We now report novel compound heterozygous mutations in the son of non-consanguineous parents. One allele has a p.Q167fsX186 mutation, which is expected to produce a truncated protein, and the other a p.N654S mutation involving a highly conserved residue. These findings confirm that mutations in the SLC5A2 gene are responsible for recessive renal glucosuria.
Familial C4B deficiency and immune complex glomerulonephritis - Soto, K; Wu, Y; Ortiz, A; Aparício, S; Yu, C
Homozygous complement C4B deficiency is described in a Southern European young female patient with Membranoproliferative Glomerulonephritis (MPGN) type III characterized by renal biopsies with strong complement C4 and IgG deposits. Low C4 levels were independent of clinical evolution or type of immunosuppression and were found in three other family members without renal disease or infections. HLA typing revealed that the patient has homozygous A*02, Cw*06, B*50 at the class I region, and DRB1*08 and DQB1*03 at the class II region. Genotypic and phenotypic studies demonstrated that the patient has homozygous monomodular RCCX in the HLA class III region, with single...
Nephrolithiasis is associated with an increased prevalence of cardiovascular disease - Domingos, F; Serra, MA
Background: Nephrolithiasis has been associated with hypertension, obesity and
diabetes Mellitus. The prevalence of adverse cardiovascular outcomes among kidney
stone formers (KSF) is unknown.
Methods: We examined the IV Portuguese National Health Survey for documenting
possible associations between nephrolithiasis, cardiovascular diseases, diabetes and obesity in the Portuguese adult population.
Results: We obtained 23,349 questionnaires from individuals with ≥ 15 year-old. The
prevalence of kidney stone disease was 7.3%. The prevalence of hypertension was
higher among KSF when compared with the general population (50.4% vs. 30.2%; p
< 0,001). Age and obesity significantly increase the risk for nephrolithiasis. After
adjusting for age and body mass index, KSF have higher prevalence...