RESUMEN
Hyperuricemia is very common in industrialized countries and known to promote vascular smooth muscle cell proliferation. Juvenile hyperuricemia is a hallmark of uromodulin-associated kidney disease characterized by progressive interstitial renal fibrosis leading to end-stage renal disease within decades. Here we describe a member of a Polish-German family with a history of familial background of chronic kidney disease, hyperuricemia, and gout. This patient had hypertension because of bilateral small renal arteries, hyperuricemia, and chronic kidney disease. Clinical and molecular studies were subsequently performed in 39 family members, which included a physical examination, Duplex ultrasound of the kidneys, laboratory tests for renal function, and urine analysis. In eight family members contrast-enhanced renal artery imaging by computed tomography-angiography or magnetic resonance imaging was conducted and showed that bilateral non-arteriosclerotic small caliber renal arteries were associated with hyperuricemia and chronic kidney disease. Of the 26 family members who underwent genotyping, 11 possessed the P236R mutation (c.707C>G) of the uromodulin gene. All family members with a small caliber renal artery carried the uromodulin P236R mutation. Statistical analysis showed a strong correlation between reduced renal artery lumen and decreased estimated glomerular filtration rate. Thus, bilateral small caliber renal arteries are a new clinical phenotype associated with an uromodulin mutation.
Asunto(s)
Tasa de Filtración Glomerular , Gota/genética , Hiperuricemia/genética , Enfermedades Renales/genética , Arteria Renal/diagnóstico por imagen , Arteria Renal/patología , Uromodulina/genética , Adolescente , Adulto , Anciano , Angiografía , Niño , Enfermedad Crónica , Femenino , Genotipo , Gota/complicaciones , Gota/fisiopatología , Humanos , Hiperuricemia/complicaciones , Hiperuricemia/fisiopatología , Enfermedades Renales/complicaciones , Enfermedades Renales/fisiopatología , Fallo Renal Crónico/etiología , Túbulos Renales Distales/química , Masculino , Persona de Mediana Edad , Mutación , Tamaño de los Órganos , Linaje , Fenotipo , Ácido Úrico/sangre , Uromodulina/análisis , Adulto JovenRESUMEN
BACKGROUND: We aimed to determine the influence of coronavirus disease 2019 (COVID-19) pandemic on blood pressure (BP) control assessed by ambulatory blood pressure monitoring (ABPM). METHODS: Office BP and ABPM data from two visits conducted within a 9-15 months interval were collected from patients treated for hypertension. In the prepandemic group, both visits took place before, while in the pandemic group, Visit-1 was done before and Visit-2 during the pandemic period. RESULTS: Of 1811 collected patients 191 were excluded because they did not meet the required ABPM time frames. Thus, the study comprised 704 patients from the pandemic and 916 from the prepandemic group. Groups did not differ in sex, age, duration of hypertension, frequency of first line antihypertensive drug use and mean 24âh BP on Visit-1. The prevalence of sustained uncontrolled hypertension was similar in both groups. On Visit-2 mean 24âh BP, daytime and nighttime systolic BP and diastolic BP were higher in the pandemic compared to the prepandemic group ( P â<â0.034). The prevalence of sustained uncontrolled hypertension on Visit-2 was higher in the pandemic than in the prepandemic group [0.29 (95% confidence interval (95% CI): 0.26-0.33) vs. 0.25 (95% CI: 0.22-0.28), P â<â0.037]. In multivariable adjusted analyses a significant difference in BP visit-to-visit change was observed, with a more profound decline in BP between visits in the prepandemic group. CONCLUSIONS: This study using ABPM indicates a negative impact of the COVID-19 pandemic on BP control. It emphasizes the need of developing strategies to maintain BP control during a pandemic such as the one induced by COVID-19.
Asunto(s)
Antihipertensivos , Monitoreo Ambulatorio de la Presión Arterial , Presión Sanguínea , COVID-19 , Hipertensión , Humanos , COVID-19/epidemiología , COVID-19/fisiopatología , Hipertensión/fisiopatología , Hipertensión/epidemiología , Hipertensión/tratamiento farmacológico , Masculino , Femenino , Persona de Mediana Edad , Anciano , Antihipertensivos/uso terapéutico , SARS-CoV-2 , Europa (Continente)/epidemiología , PandemiasRESUMEN
BACKGROUND: Increased ultrasound Doppler renal resistive index (RRI) is a marker of atherosclerotic and hypertensive organ damage both at renal and systemic level. AIM: To evaluate RRI in patients with true resistant hypertension (TRHT) in the RESIST-POL study. METHODS: From 204 patients diagnosed with TRHT in the RESIST-POL study, 151 patients (90 male, 61 female, mean age: 47.7 ± 10.4, range: 19-65 years) without secondary hypertension were included into the analysis. All patients were characterised by estimated glomerular filtration rate > 60 mL/min/1.73 m2 and no history of diabetes prior to the study. As a control group we included 50 age- and gender-matched patients (35 male, 15 female, mean age: 46.8 ± 10.4, range: 19-65 years) with primary well-controlled hypertension. The groups also did not differ in respect to the number of years of known history of hypertension. The RRIs were evaluated on the basis of the Doppler ultrasound examination. Increased RRI was defined as ≥ 0.7. RESULTS: Both groups did not differ in terms of renal function. Patients with TRHT were characterised by higher RRI as compared with the group with well-controlled hypertension (0.62 ± 0.05 vs. 0.60 ± 0.05, p < 0.05). In the TRHT group RRI correlated significantly with age, clinic and ambulatory blood pressure measurement, diastolic blood pressure (DBP) levels, as well as with clinic pulse pressure (PP) (r = 0.297; p = 0.001), with daytime (r = 0.355; p < 0.001) and nighttime (r = 0.313; p < 0.001) PP, and with fasting glucose concentration (r = 0.215; p = 0.008) and E/E' ratio (r = 0.289; p = 0.001) on echocardiography. RRI values were significantly higher in TRHT patients with newly diagnosed diabetes as compared with TRHT patients without diabetes (0.65 ± 0.05 vs. 0.62 ± 0.05, p = 0.022). Age, daytime DBP, daytime PP, and E/E' ratio but not fasting glucose concentration correlated independently with RRI in the model. Among patients with TRHT, patients with increased RRI were characterised by older age (52.2 ± 4.9 vs. 47.3 ± 10.6 years, p = 0.012), higher body mass index (32.8 ± 6.0 vs. 29.7 ± 4.5 kg/m2, p = 0.034), as well as lower daytime and nighttime DBP values and lower daytime and nighttime heart rate, as compared to patients with RRI < 0.7. The TRHT patients with increased RRI as compared to patients with RRI < 0.7 were characterised also by higher daytime and nighttime PP. Both groups did not differ in respect of renal function. CONCLUSIONS: Our study showed that the patients with TRHT were characterised by significantly higher RRI values as compared to the subjects with well-controlled hypertension. It may also be suggested that in the subjects with TRHT renal vascular resistance is related to blood pressure values, selected echocardiographic abnormalities, and some surrogate markers for metabolic and cardiovascular events, including fasting glucose plasma concentration and PP, respectively.
Asunto(s)
Hipertensión Renovascular/diagnóstico , Riñón/irrigación sanguínea , Índice de Severidad de la Enfermedad , Resistencia Vascular , Adulto , Anciano , Femenino , Humanos , Hipertensión Renovascular/patología , Riñón/patología , Masculino , Persona de Mediana Edad , Ultrasonografía Doppler , Adulto JovenRESUMEN
INTRODUCTION: Nonadherence to antihypertensive therapy is one of the main causes of resistant hypertension. OBJECTIVES: The aim of our study was to evaluate adherence to therapy in patients with resistant hypertension by determining serum antihypertensive drug levels with the use of liquid chromatography-tandem mass spectrometry (LC-MS/MS). PATIENTS AND METHODS: The study included 36 patients with primary resistant hypertension selected from the RESIST-POL study (23 men and 13 women; mean age, 52.5 ±9.1 years; range, 22-67 years; mean number of antihypertensive drugs, 5.3 ±1.4), who met all 3 inclusion criteria: use of ≥4 antihypertensive drugs; average daytime ambulatory systolic blood pressure ≥140 mmHg; one of the clinical features suggesting nonadherence. All patients had their serum drug levels assessed using LC-MS/MS. Patients in whom the serum level of at least 1 drug was below the limit of quantification for the method used were regarded as nonadherent. RESULTS: Of all study patients, nonadherence was observed in 31 patients (86.1%), and none of the prescribed drugs was detected (complete nonadherence) in 5 patients (13.9%). In 26 patients (72.2%), at least 1 of the prescribed drugs could not be detected (partial nonadherence). CONCLUSIONS: In our study, we documented a surprisingly low adherence to antihypertensive treatment in patients with resistant hypertension. Our results suggest that, particularly in those patients, the analysis of serum antihypertensive drug levels using LC-MS/MS might allow to avoid a comprehensive and costly diagnostic work-up including biochemical and imaging studies.
Asunto(s)
Antihipertensivos/sangre , Antihipertensivos/uso terapéutico , Biomarcadores/sangre , Presión Sanguínea/efectos de los fármacos , Hipertensión/tratamiento farmacológico , Cumplimiento de la Medicación/psicología , Cooperación del Paciente/psicología , Adulto , Femenino , Humanos , Masculino , Cumplimiento de la Medicación/estadística & datos numéricos , Persona de Mediana Edad , Cooperación del Paciente/estadística & datos numéricosRESUMEN
INTRODUCTION: The aim of this study was to evaluate in patients with resistant hypertension (RHTN) enrolled in the RESIST-POL study the relationship between primary aldosteronism (PA) and obstructive sleep apnoea (OSA) and their effect on metabolic abnormalities and cardiac structure. MATERIAL AND METHODS: We included 204 patients (123 M, 81 F, mean age 48.4 yrs) with true RHTN, eGFR > 60 mL/min/1,73 m(2) and no known diabetes. OSA was defined as an apnoea/hypopnoea index of 15/h or more. Metabolic syndrome components were assessed. On echocardiography, left ventricular hypertrophy (LVH), concentric remodelling (RWT > 0.45), E' velocity, E/E' index and global strain (GLS) were evaluated. RESULTS: PA was diagnosed in 32 patients (15.7%). OSA occurred more frequently in patients with PA (59.4 v. 42.4%; p = 0.058). Patients were divided into four groups: PA+ OSA+ , PA+ OSA-, PA-OSA+ and PA-OSA-. Newly diagnosed diabetes, impaired glucose tolerance and increased fasting glucose were most frequent in the PA+ OSA+ group compared to other groups. The presence of OSA was associated with concentric remodelling, and the presence of PA was associated with higher left ventricular mass and higher frequency of left ventricular hypertrophy. In the PA+ OSA+ and PA+ OSA- groups, the most frequent geometry patterns were concentric hypertrophy (68.4%) and eccentric hypertrophy (54.5%) respectively. E' velocity was lowest and E/E' was highest in PA+ OSA+ compared to other groups. GLS was lower in patients with OSA compared to those without OSA. CONCLUSIONS: Both metabolic abnormalities and target organ damage are more pronounced in patients with RHTN, PA and OSA. OSA and PA influence differently left ventricular geometry.