Demographic, clinical characteristics and cardiovascular disease burden in a Portuguese cohort of older chronic kidney disease patients / Dados demográficos, características clínicas e peso da doença cardiovascular em uma coorte portuguesa de pacientes idosos com doença renal crônica

ABSTRACT Introduction: Chronic kidney disease (CKD) is an independent risk factor for several unfavorable outcomes including cardiovascular disease (CVD), particularly in the elderly, who represent the most rapidly growing segment of the end-stage kidney disease (ESKD) population. Portugal has the highest European unadjusted incidence and prevalence rates of ESKD. In 2012, we started to follow a cohort of elderly CKD patients, we describe their baseline characteristics, risk profile, and cardiovascular disease burden. Methods: All CKD patients aged 65 years and older referred to our department during 2012 were enrolled. Baseline data included: demographic, CKD stage, medication, comorbid conditions. Estimated glomerular filtration rate (eGFR) was calculated by the CKD-EPI formula. Results: A total of 416 patients, 50% referred by primary care physicians, aged 77 ± 7 years, 52% male, with a median eGFR of 32 mL/min/1.73m2 participated in the study. Fifty percent had diabetes (DM), 85% dyslipidemia, 96% hypertension; 26% were current/former smokers, and 24% had a body mass index > 30 kg/m2. The prevalence of CVD was 62% and higher in stage 4-5 patients; in diabetics, it gradually increased with CKD progression (stage 3a < stage 3b < stage 4-5) (39, 58, 82%; p < 0.001). Conclusions: At baseline, our CKD elderly cohort had a higher burden of CVD. The prevalence of CVD was greater than in other European CKD cohorts. Lower level of eGFR was associated with a greater burden of CVD and was more pronounced in diabetics, highlighting the importance of strategically targeting cardiovascular risk reduction in these patients.

RESUMO Introdução: Doença renal crônica (DRC) é fator de risco independente para vários desfechos desfavoráveis, incluindo doença cardiovascular (DCV), particularmente em idosos, o segmento de crescimento mais rápido da população com doença renal terminal (DRT). Portugal tem a maior incidência europeia não-ajustada e a maior prevalência de DRT. Neste artigo caracterizamos uma coorte de idosos com DRC, referenciados para a nefrologia, com particular ênfase para o risco e carga de doença cardiovascular. Métodos: Foram incluídos todos os pacientes com DRC com 65 anos ou mais encaminhados ao nosso departamento em 2012. Os dados basais incluíram: demografia, estágio da DRC, medicação e comorbidades. A taxa de filtração glomerular (TFGe) foi calculada pela fórmula CKD-EPI. Resultados: Metade dos 416 pacientes incluídos foram encaminhados por médicos da atenção primária; sua idade era 77 ± 7 anos; 52% eram homens; a TFGe mediana era de 32 mL /min/1,73 m2. Metade tinha diabetes (DM), 85% dislipidemia, 96% hipertensão; 26% eram fumantes atuais/ antigos; 24% tinham índice de massa corporal > 30 kg/m2. A prevalência de DCV foi de 62%, sendo maior entre pacientes nos estágios 4-5; em diabéticos, aumentou gradualmente com a progressão da DRC (estágio 3a < estágio 3b < estágio 4-5) (39%, 58%, 82%; p < 0,001). Conclusões: A coorte de idosos com DRC apresentava inicialmente maior carga de DCV. A prevalência de DCV foi maior que em outras coortes europeias com DRC. Níveis menores de TFGe foram associados a carga maior de DCV e foram mais pronunciados entre diabéticos, destacando a importância de objetivar estrategicamente a redução do risco cardiovascular nesses pacientes.

Anderson-Fabry Disease: A Rare Disease That Mimics Common Cardiac, Neurological, Renal, and Other Disorders: Approach for the Differential Diagnosis and Follow-Up

Abstract Anderson-Fabry disease (AFD) is a rare inherited X-linked disease, caused by mutations of the gene encoding the α-galactosidase A enzyme, that leads to a deficiency or absence of its activity with consequent accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in the lysosomes of several cells types in the organism, mainly the endothelial, nervous system, cardiac, and renal cells. Its heterogeneous and nonspecific presentation, similar to other common pathologies, delays the diagnosis and leads to incorrect therapy. In the presence of attenuated phenotypes with predominant involvement of an organ, it is even harder to identify patients with AFD. It is highly important to be aware of this diagnosis, since enzyme replacement therapy is currently available. This review aims to approach the clinical manifestations of AFD and the phenotypes related to the differential diagnosis for each manifestation and the frequency of follow-up recommended.