Screening for Fabry Disease in Kidney Disease: a Cross-Sectional Study in Males and Females.

BACKGROUND/AIMS: Evaluate the prevalence of Fabry disease in men and women with kidney disease; and observe the presence and importance of the main signs and symptoms in patients with kidney disease. METHODS: A cross-sectional analysis of secondary data from a multicenter project of Clinical and Epidemiological Analysis of Fabry Disease in 854 Dialysis Centers. A total of 36,442 patients underwent the questionnaire and algorithm; of them, 28,284 were discarded for not presenting signs and symptoms of Fabry disease, while the other 8,087 submitted to blood collection and analysis. All participants signed a Free and Informed Consent Form and a questionnaire was applied. The questionnaire data were analyzed using a computerized algorithm. This program/algorithm analyzes and separates patients into: discarded, patients unlikely to have Fabry disease; suspect, patients who submitted to blood collection. The blood of suspect patients was collected on filter paper for enzyme measurement and genetic testing. A descriptive data analysis was performed and the likelihood ratio was determined. RESULTS: The general prevalence was 0.19% and after use of algorithm was 0.87%. Although more men were screened (59.3%), the prevalence was higher in women (65.1%). The most prevalent signs and symptoms were: heart disease (60.6%), decreased or lack of sweating (42.3%), heat and cold intolerance (28.2%), and pain crises spreading throughout the body (26.8%). CONCLUSION: The prevalence was higher in women, and the most prevalent symptom was heart diseases.

Screening of family members of chronic kidney disease patients with Fabry disease mutations: a very important and underrated task.

INTRODUCTION: Fabry disease is a chronic, progressive, and multi-system hereditary condition, related to an Xq22 mutation in X chromosome, which results in deficiency of alpha-galactosidase enzyme, hence reduced capacity of globotriaosylceramide degradation. OBJECTIVES: to evaluate the prevalence of Fabry disease (FD) mutations, as well as its signs and symptoms, among relatives of chronic kidney disease (CKD) patients diagnosed with FD during a previously conducted study, named "Clinical and epidemiological analysis of Fabry disease in dialysis centers in Brazil". METHODS: a cross-sectional study was carried out, and data was collected by interviewing the relatives of patients enrolled in the Brazil Fabry Kidney Project and blood tests for both Gb3 dosage and genetic testing. RESULTS: Among 1214 interviewed relatives, 115 (9.47%) were diagnosed with FD, with a predominance of women (66.10%). The most prevalent comorbidities were rheumatologic conditions and systemic hypertension (1.7% each), followed by heart, neurological, cerebrovascular diseases, and depression in 0.9% of individuals. Intolerance to physical exercise and tiredness were the most observed symptoms (1.7%), followed by periodic fever, intolerance to heat or cold, diffuse pain, burn sensation or numbness in hands and feet, reduced or absent sweating, as well as abdominal pain after meals in 0.9%. CONCLUSION: We found a prevalence of Fabry disease in 9.47% of relatives of CKD patients with this condition, remarkably with a 66.1% predominance of women, which contrasts with previous reports. The screening of family members of FD patients is important, since it can lead to early diagnosis and treatment, thus allowing better quality of life and improved clinical outcomes for these individuals.

Evaluation of prevalence, biochemical profile, and drugs associated with chronic kidney disease-mineral and bone disorder in 11 dialysis centers.

INTRODUCTION: The diagnosis and treatment of mineral and bone disorder of chronic kidney disease (CKD-MBD) is a challenge for nephrologists and health managers. The aim of this study was to evaluate the prevalence, biochemical profile, and drugs associated with CKD-MBD. METHODS: Cross-sectional study between July and November 2013, with 1134 patients on dialysis. Sociodemographic, clinical, and laboratory data were compared between groups based on levels of intact parathyroid hormone (iPTH) (< 150, 150-300, 301-600, 601-1000, and > 1001 pg/mL). RESULTS: The mean age was 57.3 ± 14.4 years. The prevalence of iPTH < 150 pg/mL was 23.4% and iPTH > 601 pg/mL was 27.1%. The comparison between the groups showed that the level of iPTH decreased with increasing age. Diabetic patients had a higher prevalence of iPTH < 150 pg/mL (27.6%). Hyperphosphatemia (> 5.5 mg/dL) was observed in 35.8%. Calcium carbonate was used by 50.5%, sevelamer by 14.7%, 40% of patients had used some form of vitamin D and 3.5% used cinacalcet. Linear regression analysis showed a significant negative association between iPTH, age, and diabetes mellitus and a significant positive association between iPTH and dialysis time. CONCLUSION: The prevalence of patients outside the target for iPTH was 50.5%. There was a high prevalence of hyperphosphatemia (35.8%), and the minority of patients were using active vitamin D, vitamin D analogs, selective vitamin D receptor activators, and cinacalcet. These data indicate the need for better compliance with clinical guidelines and public policies on the supply of drugs associated with CKD-MBD.

Validated registry of pre-dialysis chronic kidney disease: description of a large cohort.

INTRODUCTION: Chronic diseases account for the majority of deaths in Brazil. These include hypertension (SAH) and diabetes mellitus (DM), which are the main causes of chronic kidney disease (CKD). OBJECTIVE: This study aimed to validate the data of an electronic health record and to point out characteristics of the profile of these users in relation to clinical quality indicators for a pre-dialytic CKD. METHODS: Retrospective cohort, August/2010 to December/2014. Included users > 18 years, with at least two queries. Variables analyzed: sociodemographic, underlying disease, main medications and main clinical indicators of control. A descriptive analysis was performed and the percentage of users was evaluated in the goals at admission and at the end of the study. RESULTS: Exported, converted and validated data of 1,977 users with average follow-up time of 21 months. Of these, 51.4% were men, 58% were > 64 years of age and 81.6% were overweight. The main medications in use were diuretics (82.9%), BRAT (62%), Statin (60.7%) and ACE inhibitors (49.9%). The percentage of users with a decline in the glomerular filtration rate was 33.7%. Regarding glycated hemoglobin, users with CKD and DM, 36% were within the initial goal and 52.1% of the final. Blood pressure was at the target for admission at 34.3% and 49.8% at the end of follow-up. CONCLUSION: Validated data are of vital importance for health managers to monitor users. The population of this study is predominantly elderly, obese, requiring multi-professional care to slow the progression of the disease and decrease morbidity and mortality.

Screening of family members of chronic kidney disease patients with Fabry disease mutations: a very important and underrated task / Triagem de familiares de pacientes com doença renal crônica com mutação na doença de Fabry: uma tarefa muito importante e subestimada

ABSTRACT Introduction: Fabry disease is a chronic, progressive, and multi-system hereditary condition, related to an Xq22 mutation in X chromosome, which results in deficiency of alpha-galactosidase enzyme, hence reduced capacity of globotriaosylceramide degradation. Objectives: to evaluate the prevalence of Fabry disease (FD) mutations, as well as its signs and symptoms, among relatives of chronic kidney disease (CKD) patients diagnosed with FD during a previously conducted study, named "Clinical and epidemiological analysis of Fabry disease in dialysis centers in Brazil". Methods: a cross-sectional study was carried out, and data was collected by interviewing the relatives of patients enrolled in the Brazil Fabry Kidney Project and blood tests for both Gb3 dosage and genetic testing. Results: Among 1214 interviewed relatives, 115 (9.47%) were diagnosed with FD, with a predominance of women (66.10%). The most prevalent comorbidities were rheumatologic conditions and systemic hypertension (1.7% each), followed by heart, neurological, cerebrovascular diseases, and depression in 0.9% of individuals. Intolerance to physical exercise and tiredness were the most observed symptoms (1.7%), followed by periodic fever, intolerance to heat or cold, diffuse pain, burn sensation or numbness in hands and feet, reduced or absent sweating, as well as abdominal pain after meals in 0.9%. Conclusion: We found a prevalence of Fabry disease in 9.47% of relatives of CKD patients with this condition, remarkably with a 66.1% predominance of women, which contrasts with previous reports. The screening of family members of FD patients is important, since it can lead to early diagnosis and treatment, thus allowing better quality of life and improved clinical outcomes for these individuals.

RESUMO Introdução: A doença de Fabry é uma condição hereditária crônica, progressiva e multissistêmica, relacionada a uma mutação Xq22 no cromossomo X, que resulta em deficiência da enzima alfa-galactosidase, diminuindo a capacidade de degradação da globotriaosilceramida. Objetivos: avaliar a prevalência de mutações na doença de Fabry, bem como seus sinais e sintomas, em familiares de pacientes com doença renal crônica (DRC) diagnosticados com DF durante um estudo realizado anteriormente, denominado "Análise clínica e epidemiológica da doença de Fabry em centros de diálise no Brasil". Métodos: foi realizado um estudo transversal e os dados foram coletados através da entrevista com familiares de pacientes inscritos no Projeto Rim Fabry Brasil e exames de sangue para dosagem de Gb3 e testes genéticos. Resultados: Dos 1,214 familiares entrevistados, 115 (9,47%) foram diagnosticados com DF, com predomínio de mulheres (66,10%). As comorbidades mais prevalentes foram condições reumatológicas e hipertensão arterial sistêmica (1,7% cada), seguidas por doenças cardíacas, neurológicas, cerebrovasculares e depressão em 0,9% dos indivíduos. Intolerância ao exercício físico e cansaço foram os sintomas mais observados (1,7%), seguidos de febre periódica, intolerância ao calor ou ao frio, dor difusa, sensação de queimação ou dormência nas mãos e nos pés, sudorese reduzida ou ausente, além de dor abdominal após refeições em 0,9%. Conclusão: Encontramos uma prevalência da doença de Fabry em 9,47% dos familiares de pacientes com DRC com essa condição, notadamente com uma predominância de 66,1% de mulheres, o que contrasta com relatos anteriores. A triagem de familiares de pacientes com DF é importante, pois pode levar ao diagnóstico e tratamento precoces, permitindo melhor qualidade de vida e melhores resultados clínicos para esses indivíduos.

Impact of social vulnerability on the outcomes of predialysis chronic kidney disease patients in an interdisciplinary center.

INTRODUCTION: Numerous studies examined the associations between socio-demographic, economic and individual factors and chronic kidney disease (CKD) outcomes and observed that the associations were complex and multifactorial. Socioeconomic factors can be evaluated by a model of social vulnerability (SV). OBJECTIVE: To analyze the impact of SV on the outcomes of predialysis patients. METHODS: Demographic, clinical and laboratory data were collected from a cohort of patients with predialysis stage 3 to 5 who were treated by an interdisciplinary team (January 2002 and December 2009) in Minas Gerais, Brazil. Factor, cluster and discriminant analysis were performed in sequence to identify the most important variables and develop a model of SV that allowed for classification of the patients as vulnerable or non-vulnerable. Cox regression was performed to examine the impact of SV on the outcomes of mortality and need for renal replacement therapy (RRT). RESULTS: Of the 209 patients examined, 29.4% were classified as vulnerable. No significance difference was found between the vulnerable and non-vulnerable groups regarding either mortality (log rank: 0.23) or need for RRT (log rank: 0.17). In the Cox regression model, the hazard ratios (HRs) for the unadjusted and adjusted impact of SV on mortality were found to be 1.87 (confidence interval [CI]: 0.64-5.41) and 1.47 (CI: 0.35-6.0), respectively, and the unadjusted and adjusted impact of need for RRT to be 1.85 (CI: 0.71-4.8) and 2.19 (CI: 0.50-9.6), respectively. CONCLUSION: These findings indicate that SV did not influence the outcomes of patients with predialysis CKD treated in an interdisciplinary center.

Validated registry of pre-dialysis chronic kidney disease: description of a large cohort / Registro validado de doença renal crônica pré-dialítica: descrição de uma grande coorte

ABSTRACT Introduction: Chronic diseases account for the majority of deaths in Brazil. These include hypertension (SAH) and diabetes mellitus (DM), which are the main causes of chronic kidney disease (CKD). Objective: This study aimed to validate the data of an electronic health record and to point out characteristics of the profile of these users in relation to clinical quality indicators for a pre-dialytic CKD. Methods: Retrospective cohort, August/2010 to December/2014. Included users > 18 years, with at least two queries. Variables analyzed: sociodemographic, underlying disease, main medications and main clinical indicators of control. A descriptive analysis was performed and the percentage of users was evaluated in the goals at admission and at the end of the study. Results: Exported, converted and validated data of 1,977 users with average follow-up time of 21 months. Of these, 51.4% were men, 58% were > 64 years of age and 81.6% were overweight. The main medications in use were diuretics (82.9%), BRAT (62%), Statin (60.7%) and ACE inhibitors (49.9%). The percentage of users with a decline in the glomerular filtration rate was 33.7%. Regarding glycated hemoglobin, users with CKD and DM, 36% were within the initial goal and 52.1% of the final. Blood pressure was at the target for admission at 34.3% and 49.8% at the end of follow-up. Conclusion: Validated data are of vital importance for health managers to monitor users. The population of this study is predominantly elderly, obese, requiring multi-professional care to slow the progression of the disease and decrease morbidity and mortality.

RESUMO Introdução: As doenças crônicas são responsáveis pela maioria dos óbitos no Brasil. Estas incluem hipertensão (HAS) e diabetes mellitus (DM), que figuram como as principais causas de doença renal crônica (DRC). Objetivo: Este estudo teve como objetivo validar os dados de um sistema de prontuário eletrônico e apontar características do perfil dos usuários em relação aos indicadores clínicos de qualidade para DRC pré-dialítica. Métodos: Estudo observacional retrospectivo cobrindo o período de agosto de 2010 a dezembro de 2014. Foram incluídos indivíduos maiores de 18 anos, com pelo menos duas buscas. Variáveis analisadas: sociodemográficas, doença de base, principais medicamentos e principais indicadores clínicos de controle. Foi realizada uma análise descritiva e avaliado o percentual de usuários dentro das metas na internação e ao final do estudo. Resultados: Foram exportados, convertidos e validados os dados de 1.977 usuários com tempo médio de seguimento de 21 meses. Destes, 51,4% eram homens, 58% tinham idade superior a 64 anos e 81,6% apresentavam sobrepeso. Os principais medicamentos em uso foram diuréticos (82,9%), BRAT (62%), estatina (60,7%) e inibidores da ECA (49,9%). O percentual de usuários com queda da taxa de filtração glomerular foi de 33,7%. Em relação à hemoglobina glicada, dos usuários com DRC e DM, 36% estavam dentro da meta inicial e 52,1% da final. A pressão arterial estava dentro do alvo em 34,3% dos pacientes na internação e em 49,8% ao final do seguimento. Conclusão: Dados validados são de vital importância para os gestores da saúde monitorarem os usuários. A população deste estudo é predominantemente idosa, obesa, e com necessidade de cuidados multiprofissionais para retardar a progressão da doença e diminuir a morbimortalidade.

Evaluation of prevalence, biochemical profile, and drugs associated with chronic kidney disease-mineral and bone disorder in 11 dialysis centers / Avaliação da prevalência, perfil bioquímico e drogas associadas ao distúrbio mineral ósseo-doença renal crônica em 11 centros de diálise

ABSTRACT Introduction: The diagnosis and treatment of mineral and bone disorder of chronic kidney disease (CKD-MBD) is a challenge for nephrologists and health managers. The aim of this study was to evaluate the prevalence, biochemical profile, and drugs associated with CKD-MBD. Methods: Cross-sectional study between July and November 2013, with 1134 patients on dialysis. Sociodemographic, clinical, and laboratory data were compared between groups based on levels of intact parathyroid hormone (iPTH) (< 150, 150-300, 301-600, 601-1000, and > 1001 pg/mL). Results: The mean age was 57.3 ± 14.4 years. The prevalence of iPTH < 150 pg/mL was 23.4% and iPTH > 601 pg/mL was 27.1%. The comparison between the groups showed that the level of iPTH decreased with increasing age. Diabetic patients had a higher prevalence of iPTH < 150 pg/mL (27.6%). Hyperphosphatemia (> 5.5 mg/dL) was observed in 35.8%. Calcium carbonate was used by 50.5%, sevelamer by 14.7%, 40% of patients had used some form of vitamin D and 3.5% used cinacalcet. Linear regression analysis showed a significant negative association between iPTH, age, and diabetes mellitus and a significant positive association between iPTH and dialysis time. Conclusion: The prevalence of patients outside the target for iPTH was 50.5%. There was a high prevalence of hyperphosphatemia (35.8%), and the minority of patients were using active vitamin D, vitamin D analogs, selective vitamin D receptor activators, and cinacalcet. These data indicate the need for better compliance with clinical guidelines and public policies on the supply of drugs associated with CKD-MBD.

RESUMO Introdução: O diagnóstico e tratamento do distúrbio mineral ósseo-doença renal crônica (DMO-DRC) é um desafio para os nefrologistas e gestores de saúde. O objetivo deste estudo foi avaliar a prevalência, perfil bioquímico, e drogas associadas a DMO-DRC. Métodos: Estudo transversal entre julho e novembro de 2013, em 11 centros com 1134 pacientes em diálise. Dados sociodemográficos, clínicos, e laboratoriais foram comparados entre os grupos, com base em níveis do paratormônio intacto (PTHi) (< 150,151-300, 301-600,601-1000, e > 1001 pg/mL). Resultados: A idade média foi de 57,3 ± 14,4 anos, 1071 pacientes estavam em hemodiálise, e 63 em diálise peritoneal. A prevalência de PTHi < 150 pg/mL foi 23,4% e PTHi > 601 pg/mL foi de 27,1%. A comparação dos grupos mostrou que o nível de PTHi diminuiu com o aumento da idade. Pacientes diabéticos apresentaram uma maior prevalência de PTHi < 150 pg/mL (27,6%). Carbonato de cálcio foi usado por 50,5%, Sevelamer por 14,7%, 40% dos pacientes utilizaram alguma forma de vitamina D, e 3,5% utilizaram cinacalcet. A hiperfosfatemia (> 5,5mg/dL) foi observada em 35,8%. A análise de regressão linear mostrou uma associação negativa significativa entre PTHi, idade, e diabetes mellitus e uma associação positiva significativa com o tempo em diálise. Conclusão: A prevalência de pacientes fora do alvo para PTHi foi de 50,5%. Houve uma alta prevalência de hiperfosfatemia e um baixo uso de vitamina D ativa, análogos da vitamina D, ativadores seletivos da vitamina D, e cinacalcet. Estes dados chamam a atenção para a necessidade de uma maior conformidade com as diretrizes e políticas públicas sobre o fornecimento de medicamentos associados à DMO-DRC.

Impact of social vulnerability on the outcomes of predialysis chronic kidney disease patients in an interdisciplinary center / Impacto da vulnerabilidade social nos desfechos de pacientes com doença renal crônica pré-dialítica em um centro interdisciplinar

Introduction: Numerous studies examined the associations between socio-demographic, economic and individual factors and chronic kidney disease (CKD) outcomes and observed that the associations were complex and multifactorial. Socioeconomic factors can be evaluated by a model of social vulnerability (SV). Objective: To analyze the impact of SV on the outcomes of predialysis patients. Methods: Demographic, clinical and laboratory data were collected from a cohort of patients with predialysis stage 3 to 5 who were treated by an interdisciplinary team (January 2002 and December 2009) in Minas Gerais, Brazil. Factor, cluster and discriminant analysis were performed in sequence to identify the most important variables and develop a model of SV that allowed for classification of the patients as vulnerable or non-vulnerable. Cox regression was performed to examine the impact of SV on the outcomes of mortality and need for renal replacement therapy (RRT). Results: Of the 209 patients examined, 29.4% were classified as vulnerable. No significance difference was found between the vulnerable and non-vulnerable groups regarding either mortality (log rank: 0.23) or need for RRT (log rank: 0.17). In the Cox regression model, the hazard ratios (HRs) for the unadjusted and adjusted impact of SV on mortality were found to be 1.87 (confidence interval [CI]: 0.64-5.41) and 1.47 (CI: 0.35-6.0), respectively, and the unadjusted and adjusted impact of need for RRT to be 1.85 (CI: 0.71-4.8) and 2.19 (CI: 0.50-9.6), respectively. Conclusion: These findings indicate that SV did not influence the outcomes of patients with predialysis CKD treated in an interdisciplinary center. .

Introdução: Inúmeros estudos avaliaram as associações entre fatores sociodemográficos, econômicos e doença renal crônica (DRC) e demonstraram que essas associações foram complexas e multifatoriais. Um método para avaliar os fatores socioeconômicos é construir um modelo de vulnerabilidade social (VS). Objetivo: Identificar a influência de vulnerabilidade social (VS) sobre os desfechos de uma coorte de pacientes com doença renal crônica (DRC) pré-dialítica. Métodos: Foram coletados dados demográficos, clínicos e laboratoriais, em uma coorte retrospectiva com pacientes nos estágios 3 a 5, que foram acompanhados por uma equipe interdisciplinar, no período compreendido entre janeiro de 2002 e dezembro de 2009, em Minas Gerais, Brasil. Para calcular a VS, foram utilizadas três técnicas estatísticas em sequência, análise fatorial, análise de agrupamento e análise discriminante. A sobrevida foi analisada com as curvas de Kaplan-Meier. O desfecho foi mortalidade ou iniciar a terapia renal substitutiva (TRS), analisadas por uma regressão de Cox. Resultados: Foram avaliados 209 pacientes, 29,4% eram vulneráveis. Não observamos diferença na mortalidade entre os grupos VS pela Kaplan Meier. Na regressão de Cox, hazard ratio (HR) e intervalo de confiança (CI) para o impacto da VS sobre a mortalidade, não ajustado foi HR: 1.87 (CI: 0.64-5 0,41) e HR ajustado:1,47 (C1: 0.35-60,0). O impacto da VS em TRS mostrou o HR e CI HR não ajustado: 1,85 (CI: 0.7140,8) e HR ajustado: 2,19 (CI: 0.50-90,6). Conclusão: Estes resultados indicam que a VS não influenciou os resultados de pacientes com DRC na pré-diálise tratados em um centro interdisciplinar. .