Assuntos
Biomarcadores , Progressão da Doença , Gordura Intra-Abdominal , Rim Policístico Autossômico Dominante , Humanos , Rim Policístico Autossômico Dominante/metabolismo , Rim Policístico Autossômico Dominante/diagnóstico , Rim Policístico Autossômico Dominante/complicações , Biomarcadores/metabolismo , Gordura Intra-Abdominal/metabolismo , Obesidade Abdominal/metabolismo , Obesidade Abdominal/complicações , AdiposidadeRESUMO
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of chronic kidney disease (CKD) that requires dialysis. Knowing geographical clusters can be critical for early diagnosis, progression control, and genetic counseling. The objective was to establish the prevalence, geographic location, and ethnic groups of patients with ADPKD who underwent dialysis or kidney transplant in Colombia between 2015 and 2019. METHODS: We did a cross-sectional study with data from the National Registry of Chronic Kidney Disease (NRCKD) managed by the High-Cost Diseases Fund (Cuenta de Alto Costo [CAC] in Spanish) between July 1, 2015, and June 30, 2019. We included Colombian population with CKD with or without renal replacement therapy (RRT) due to ADPKD. Crude and adjusted prevalence rates were estimated by state and city. RESULTS: 3,339 patients with ADPKD were included, period prevalence was 9.81 per 100,000 population; there were 4.35 cases of RRT per 100,000 population, mean age of 52.58 years (± 13.21), and 52.78% women. Seventy-six patients were Afro-Colombians, six were indigenous, and one Roma people. A total of 46.07% began scheduled dialysis. The highest adjusted prevalence rate was in Valle del Cauca (6.55 cases per 100,000 population), followed by Risaralda, and La Guajira. Regarding cities, Cali had the highest prevalence rate (9.38 cases per 100,000 population), followed by Pasto, Medellin, and Bucaramanga. CONCLUSIONS: ADPKD prevalence is lower compared to Europe and US; some states with higher prevalence could be objective to genetic prevalence study.
Assuntos
Rim Policístico Autossômico Dominante , Insuficiência Renal Crônica , Humanos , Feminino , Pessoa de Meia-Idade , Masculino , Rim Policístico Autossômico Dominante/diagnóstico , Rim Policístico Autossômico Dominante/epidemiologia , Rim Policístico Autossômico Dominante/terapia , Colômbia/epidemiologia , Diálise Renal , Estudos Transversais , Insuficiência Renal Crônica/epidemiologia , Insuficiência Renal Crônica/terapiaRESUMO
Autosomal dominant polycystic kidney disease is a slowly progressive, lifelong disease characterized by continuous development and enlargement of kidney cysts. Thus, nonpharmacological interventions are crucial in disease management and have the potential for a large clinical impact as standalone interventions or in conjunction with pharmacological therapies. Current potential strategies regarding nonpharmacological management of autosomal dominant polycystic kidney disease include nonpharmacological management of blood pressure, calorie restriction, weight loss or weight management, enhanced hydration, limiting caffeine, dietary sodium restriction, protein restriction or altering the type of protein intake, phosphorus restriction, and reducing net acid load. This brief review discusses the available evidence, including cell culture, animal, epidemiological, and clinical studies, regarding the utility of such strategies in the nonpharmacological management of autosomal dominant polycystic kidney disease. We assert that lifestyle modification strategies should be a critical aspect of the treatment of autosomal dominant polycystic kidney disease, while further trial and mechanistic evidence continue to become available.
Assuntos
Neoplasias Renais , Rim Policístico Autossômico Dominante , Sódio na Dieta , Animais , Rim Policístico Autossômico Dominante/diagnóstico , Cloreto de Sódio na Dieta , Pressão SanguíneaRESUMO
A doença renal policística felina (DRP), comumente conhecida como PKD (Polycystic Kidney Disease), é uma enfermidade de caráter hereditário, congênita autossômica dominante, que se caracteriza pelo desenvolvimento de cistos renais com crescimento progressivo. Esses cistos também podem ser encontrados no pâncreas, fígado e baço, com tamanhos variados. É mais comumente diagnosticada em gatos, principalmente na raça persa ou mestiços, sem distinção por sexo e cor da pelagem. Os sinais clínicos variam de acordo com o comprometimento do parênquima renal e o diagnóstico precoce é significativo, para retirar pacientes acometidos da reprodução, evitando a disseminação da doença, visto que não há um tratamento específico.(AU)
The feline polycystic kidney disease, commonly known as PKD (Polycystic Kidney Disease) is a disease of hereditary character, congenital autosomal dominant character, which is characterized by the development of kidney cysts with progressive growth. These cysts can also be found in the pancreas, liver, and spleen, with varying sizes. It is most commonly diagnosed in cats, mainly in the Persian breed or mixed-breeds, without distinction for sex or coat color. The clinical signs vary according to the involvement of the renal parenchyma and early diagnosis is significant, to remove affected patients from breeding, avoiding the spread of the disease, since there is no specific treatment.(AU)
Assuntos
Animais , Gatos , Doenças do Gato , Rim Policístico Autossômico Dominante/diagnóstico , Anormalidades Congênitas/veterinária , Doenças Genéticas Inatas/veterinária , RimRESUMO
Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary nephropathy characterized by abnormal growth of epithelial cells. Genetic factors, including the vascular endothelial growth factor (VEGF) gene, play an important role in its progression. The main aim of this study was to evaluate the influence of VEGF-C936T polymorphism in the development and progression of ADPKD. In total, 302 individuals were studied and divided into two groups: G1 (73 patients with ADPKD) and G2 (229 individuals without the disease). Among the patients, 46 (63%) progressed to end-stage renal disease (ESRD), and required hemodialysis and/or renal transplant. These patients were re-grouped into G1-A for progression analysis. A peripheral blood sample was obtained from all subjects; the DNA was extracted and the VEGF-C936T polymorphism analyzed using polymerase chain reaction/restriction fragment length polymorphism. The significance level was set at P < 0.05. The homozygous wild-type genotype (C/C) was predominant in G1 (78%) and G2 (79%; P = 0.9249). We observed a significant reduction in the mean age of patients with the risk allele (C/T + T/T = 44.3 ± 13.4 years) compared to the C/C genotype (52.2 ± 9.6 years; P = 0.047) in G1-A. In conclusion, the VEGF-C936T polymorphism does not discriminate patients from controls. However, the presence of the T allele appears to accelerate the progression of ADPKD, anticipating ESRD, thereby suggesting its importance in the prognosis of the disease. However, the importance role played by VEGF gene variants in different populations and larger sample sizes must be verified.
Assuntos
Falência Renal Crônica/genética , Neovascularização Patológica/genética , Rim Policístico Autossômico Dominante/genética , Polimorfismo de Nucleotídeo Único , Fator A de Crescimento do Endotélio Vascular/genética , Adulto , Fatores Etários , Alelos , Biomarcadores/metabolismo , Estudos de Casos e Controles , Proliferação de Células , Progressão da Doença , Células Epiteliais/metabolismo , Células Epiteliais/patologia , Feminino , Expressão Gênica , Frequência do Gene , Genótipo , Homozigoto , Humanos , Rim/metabolismo , Rim/patologia , Falência Renal Crônica/diagnóstico , Falência Renal Crônica/etiologia , Falência Renal Crônica/patologia , Masculino , Neovascularização Patológica/complicações , Neovascularização Patológica/diagnóstico , Neovascularização Patológica/patologia , Rim Policístico Autossômico Dominante/complicações , Rim Policístico Autossômico Dominante/diagnóstico , Rim Policístico Autossômico Dominante/patologia , Risco , Fator A de Crescimento do Endotélio Vascular/metabolismoRESUMO
La poliquistosis renal autosómica dominante es la enfermedad hereditaria renal más frecuente. Actualmente se están realizando claros avances en el intento de enlentecer su progresión. Con la evidencia actual es aconsejable la detección y el tratamiento precoz de la hipertensión arterial, de los factores de riesgo cardiovascular y de las complicaciones renales y extrarrenales. Se deben aplicar todas las medidas de nefroprevención para evitar la progresión de la enfermedad renal crónica y ofrecer de manera coordinada, en caso de ser necesario, el acceso a todas las técnicas de reemplazo de la función renal, incluido el trasplante renal. Si bien no hay evidencia acerca de la medicación antihipertensiva ideal, el uso de inhibidores de la enzima convertidora de la angiotensina y/o antagonistas de los receptores de la angiotensina II, parece recomendable...
Assuntos
Humanos , Rim Policístico Autossômico Dominante/diagnóstico , Rim Policístico Autossômico Dominante/terapiaRESUMO
La poliquistosis renal autosómica dominante es la enfermedad hereditaria renal más frecuente. Actualmente se están realizando claros avances en el intento de enlentecer su progresión. Con la evidencia actual es aconsejable la detección y el tratamiento precoz de la hipertensión arterial, de los factores de riesgo cardiovascular y de las complicaciones renales y extrarrenales. Se deben aplicar todas las medidas de nefroprevención para evitar la progresión de la enfermedad renal crónica y ofrecer de manera coordinada, en caso de ser necesario, el acceso a todas las técnicas de reemplazo de la función renal, incluido el trasplante renal. Si bien no hay evidencia acerca de la medicación antihipertensiva ideal, el uso de inhibidores de la enzima convertidora de la angiotensina y/o antagonistas de los receptores de la angiotensina II, parece recomendable. (AU)
Autosomal dominant polycystic disease is the most common hereditary renal disease. Significant progress is being made today in order to slow down its advance. According to current evidence, early diagnosis and treatment of high blood pressure, cardiovascular risk factors, and kidney and extra-kidney complications are advisable. All kidney-prevention measures need to be applied to prevent the chronic kidney disease from advancing, and, if necessary, access to all techniques that replace kidney function are to be offered in an articulated manner, including kidney transplant.In spite of there being no evidence of an ideal medication for high bloodpressure, using inhibitors of the angiotensin converting enzyme and/or angiotensin II receptor antagonists appears to be advisable.
A doença renal policística autossômica dominante é a enfermidade hereditária renal mais frequente. Atualmente observam-se muitos avanços buscando reduzir sua progressão. Com a evidencia atual é aconselhável fazer a detecção e o tratamento precoce da hipertensão arterial, dos fatores de risco cardiovascular e das complicações renais e extrarrenais. Todas as medidas de nefroprevenção devem ser aplicadas para evitar a progressão da doença renal crônica e oferecer de maneira coordenada, caso seja necessário, o acesso a todas as técnicas de substituição da função renal, inclusive o transplante renal.Embora não exista evidencia sobre uma medicação anti-hipertensiva ideal, o uso de inibidores da enzima conversora da angiotensina e/ou antagonistas dos receptores da angiotensina II, parece recomendável.
Assuntos
Rim Policístico Autossômico Dominante/diagnóstico , Rim Policístico Autossômico Dominante/terapiaRESUMO
Autosomal-dominant polycystic kidney disease (ADPKD) is the most prevalent inherited genetic disease of cats, predominantly affecting Persian and Persian-related cats. A point mutation (CâA transversion) in exon 29 of the PKD1 gene causes ADPKD, and is the specific molecular target for genetic diagnosis in cats. The current study describes a newly developed touchdown polymerase chain reaction (PCR) to detect this single point mutation, using 2 primers specific for the mutant allele, adapted from an existing multiplex amplification refractory mutation system (ARMS PCR). Furthermore, correlations between the clinical outcomes of tested animals and the results of the genetic test were investigated. A total of 334 cats were tested, 188 from the Veterinary Hospital of Small Animals at the University of Brasilia, and 146 from an anti-rabies vaccine campaign of the Federal District. A total prevalence of 9% was evident among the samples, with 33% of the Persian cats testing positive, and 7% of the Brazilian long- and shorthaired cats testing positive. Prevalence was not correlated with gender or hemogram. Positive animals exhibited hyperglobulinemia ( P = 0.02). This research demonstrated that the mutation does not only occur in Persian and Persian-related cats, and that a touchdown PCR can be used to diagnose ADPKD.
Assuntos
Doenças do Gato/diagnóstico , Doenças do Gato/epidemiologia , Rim Policístico Autossômico Dominante/veterinária , Reação em Cadeia da Polimerase/veterinária , Animais , Brasil/epidemiologia , Gatos/genética , Feminino , Masculino , Mutação Puntual , Rim Policístico Autossômico Dominante/diagnóstico , Rim Policístico Autossômico Dominante/epidemiologia , Reação em Cadeia da Polimerase/métodos , PrevalênciaRESUMO
BACKGROUND: Reports about exercise performance in autosomal dominant polycystic kidney disease (ADPKD) are scarce. We aimed to evaluate exercise capacity and levels of nitric oxide and asymmetric dimethylarginine (ADMA) in normotensive patients with ADPKD. STUDY DESIGN: Prospective controlled cohort study. SETTING & PARTICIPANTS: 26 patients with ADPKD and 30 non-ADPKD control participants (estimated glomerular filtration rate>60 mL/min/1.73 m2, aged 19-39 years, and blood pressure [BP]<140/85 mmHg). We excluded smokers, obese people, and individuals with associated diseases. PREDICTOR: ADPKD versus control. OUTCOMES: Exercise capacity and nitric oxide and ADMA levels in response to exercise. MEASUREMENTS: Cardiopulmonary exercise testing and serum and urinary nitric oxide, plasma ADMA, and BP levels before and after exercise. RESULTS: Mean basal systolic and diastolic BP, estimated glomerular filtration rate, and age did not differ between the ADPKD and control groups (116±12 vs. 110±11 mmHg, 76±11 vs 71±9 mmHg, 113±17 vs. 112±9.6 mL/min/1.73 m2, and 30±8 vs. 28.9±7.3 years, respectively). Peak oxygen uptake and anaerobic threshold were significantly lower in the ADPKD group than in controls (22.2±3.3 vs. 31±4.8 mL/kg/min [P<0.001] and 743.6±221 vs. 957.4±301 L/min [P=0.01], respectively). Postexercise serum and urinary nitric oxide levels in patients with ADPKD were not significantly different from baseline (45±5.1 vs. 48.3±4.6 µmol/L and 34.7±6.5 vs. 39.8±6.8 µmol/mg of creatinine, respectively), contrasting with increased postexercise values in controls (63.1±1.9 vs. 53.9±3.1 µmol/L [P=0.01] and 61.4±10.6 vs. 38.7±5.6 µmol/mg of creatinine [P=0.01], respectively). Similarly, whereas postexercise ADMA level did not change in the ADPKD group compared to those at rest (0.47±0.04 vs. 0.45±0.02 µmol/L [P=0.6]), it decreased in controls (0.39±0.02 vs. 0.47±0.02 µmol/L [P=0.006]), as expected. A negative correlation between nitric oxide and ADMA levels after exercise was found in only the control group (r = -0.60; P<0.01). LIMITATIONS: Absence of measurements of flow-mediated dilatation and oxidative status. CONCLUSIONS: We found lower aerobic capacity in young normotensive patients with ADPKD with preserved kidney function and inadequate responses of nitric oxide and ADMA levels to acute exercise, suggesting the presence of early endothelial dysfunction in this disease.
Assuntos
Tolerância ao Exercício/fisiologia , Exercício Físico/fisiologia , Rim Policístico Autossômico Dominante/fisiopatologia , Adulto , Pressão Sanguínea/fisiologia , Estudos de Coortes , Feminino , Seguimentos , Frequência Cardíaca/fisiologia , Humanos , Masculino , Rim Policístico Autossômico Dominante/diagnóstico , Estudos Prospectivos , Adulto JovemRESUMO
INTRODUCTION: Autosomal dominant polycystic kidney disease is the most common hereditary renal disease in humans. OBJECTIVE: To examine the prevalence, clinical and laboratory characteristics of patients with polycystic kidneys and relate disease manifestations by gender. METHODS: This was an observational and retrospective study. All the medical records of patients with polycystic kidneys who initiated hemodialysis between 1995 and 2012, in four centers that treat patients of the coverage area of the 15th regional health Paraná (Brazil), were analyzed. RESULTS: The study included 48 patients with polycystic kidneys, the primary cause of stage 5 CKD. Disease prevalence was one in 10,912 people. The average age of dialysis initiation was 50.7 years and the follow-up time on dialysis until transplantation (36.5 months) was lower among men. Hypertension was the most frequent diagnosis in 73% of patients, predominantly in women (51.4%). The liver cyst was the most frequent extrarenal manifestations in men (60.0%). The death occurred in 10.4% of patients using hemodialysis, and 60% of men. The class of antihypertensive drug used was that acts on the renin-angiotensin system with higher frequency of use among women (53.3%). The post-dialysis urea was significantly higher in men. CONCLUSION: The prevalence of the disease is low among hemodialysis patients in southern Brazil. The differences observed between genders, with the exception of the post-dialysis urea, were not significant. The findings are different from those reported in North America and Europe.