Nefrologia
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- Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria.Publication . Calado, J; Soto, K; Clemente, C; Correia, P; Rueff, JFamilial 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.
- A propósito de dois casos clínicos de linfoma de Burkitt do rim em doentes com infecção a VIHPublication . Gonçalves, L; Aparício, S; Costa, MM; Inchaustegui, L; Costa, C; Fiúza, T; Silva, S
- Avaliação Metabólica da LCIR na população portuguesaPublication . Serra, MA; Domingos, F
- Demographic and clinical characteristics of patients receiving dialysis in Portugal: a nationwide multicentre surveyPublication . 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, TBackground. 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 HIV in 53% of cases. Four patients had biopsy-proved HIV-associated nephropathy. Ninety-five percent of patients were on chronic hemodialysis. Fifty percent of patients had acquired immunodeficiency syndrome. At follow-up, 12 patients died. HIV-infected CKD patient survival after starting dialysis was 80% at 3 years. Conclusion. The incidence of HIV-infected patients on chronic dialysis in Portugal has almost doubled. Widespread use of highly active antiretroviral therapy and the increasing number of black Africans from former overseas Portuguese colonies now living in Portugal are possible reasons for this large increase.
- Cystatin C as a marker of acute kidney injury in the emergency departmentPublication . Soto, K; Coelho, S; Rodrigues, B; Martins, H; Frade, F; Lopes, S; Cunha, L; Papoila, A; Devarajan, PBACKGROUND 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 to AKI, prerenal azotemia, chronic kidney disease (CKD), and normal kidney function. RESULTS: Patients were adjudicated to have AKI in 21.1%, prerenal azotemia in 25.8%, CKD in 2.4%, and normal kidney function in 50.7%. For the diagnosis of AKI, the discriminatory ability of urinary creatinine and cystatin C was marginal. Both serum cystatin C and serum creatinine (at presentation and 6 hours later) showed high discriminatory ability for the diagnosis of AKI. However, only serum cystatin C attained a significant early predictive power (Hosmer-Lemeshow P value > 0.05). Serum cystatin C could differentiate between AKI and prerenal azotemia, but not between AKI and CKD. CONCLUSIONS: Serum cystatin C is an early, predictive biomarker of AKI, which outperforms serum creatinine in the heterogeneous emergency department setting. However, neither biomarker discriminated between AKI and CKD. Additional biomarkers continue to be needed for improved specificity in the diagnosis of community-acquired AKI.
- Model-based analysis of FGF23 regulation in chronic kidney diseasePublication . Yokota, H; Pires, A; Raposo, J; Ferreira, HThe 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 in the FGF23 level elevated the serum concentrations of PTH, calcitriol, and phosphorus. The model also predicted that the administration reduced a urinary output of phosphorous. This model-based prediction indicated that the therapeutic reduction of FGF23 by the neutralizing antibody did not reduce phosphorus burden of CKD patients and decreased the urinary phosphorous excretion. Thus, the high FGF23 level in CKD patients was predicted to be a failure of FGF23-mediated phosphorous excretion. The results herein indicate that it is necessary to understand the mechanism in CKD in which the level of FGF23 is elevated without effectively regulating phosphorus.
- Familial C4B deficiency and immune complex glomerulonephritisPublication . Soto, K; Wu, Y; Ortiz, A; Aparício, S; Yu, CHomozygous 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 long C4A genes coding for C4A3 and complete C4B deficiency. Her father, mother, son and niece have heterozygous C4B deficiency. The patient's deceased brother had a history of Henoch-Schönlein Purpura (HSP), an immune complex-mediated proliferative glomerulonephritis. These findings challenge the putative pathophysiological roles of C4A and C4B and underscore the need to perform functional assays, C4 allotyping and genotyping on patients with persistently low serum levels of a classical pathway complement component and glomerulopathy associated with immune deposits.
- Nephrolithiasis is associated with an increased prevalence of cardiovascular diseasePublication . Domingos, F; Serra, MABackground: 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 of hypertension (odds-ratio: 1.841; 95% CI: 1.651 – 2.053), diabetes Mellitus (odds-ratio: 1.475; 95% CI: 1.283 – 1.696; p < 0.001), myocardial infarction (odds-ratio: 1.338; 95% CI: 1.003 – 1.786; p < 0.05), and stroke (odds-ratio: 1.330; 95% CI: 1.015 – 1.743; p < 0.05) as compared with non-stone formers. Conclusions: Kidney stone disease is associated with a higher prevalence of chronic diseases and adverse cardiovascular outcomes when compared with the general population.
- Utilidade do exame de urina como ferramenta diagnósticaPublication . Rodrigues, B
- Endovascular management of non maturing dyalisis vascular accessPublication . Pinto, E; Madeira, C; Sousa, M; Penha, D; Rosa, L; Germano, A; Baptista, M