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2.
Pediatr Cardiol ; 44(3): 599-606, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35809123

RESUMO

The aim of our study was to investigate the influence of the degree of obesity on ambulatory blood pressure parameters in selected group of office normotensive obese children and adolescents. Our study involved 119 obese patients (55 males, 46.2%) aged 7-18 years divided into 3 groups based on their body mass index Z-score, who underwent ambulatory blood pressure monitoring. Our results show that obese patients, even when office normotensive, have alterations in blood pressure values obtained by ambulatory blood pressure monitoring. We found a positive correlation between systolic and diastolic blood pressure and body mass index in our patients (p [Formula: see text] 0.001). Daytime blood pressure load correlated with rising body mass index and was higher in groups II and III compared to group I (p < 0.001). Body mass index category did not influence the dipping pattern in our subjects although most of our subjects (66.4%) showed non-dipping pattern for systolic blood pressure. The difference in blood pressure variability was confirmed only for daytime systolic and diastolic values between groups I and II (p = 0.019 and p = 0.002, respectively). In conclusion, our study showed that in office normotensive obese children and adolescents, systolic and diastolic blood pressure values obtained by ambulatory blood pressure monitoring are higher in subjects with higher body mass index. Patients with increased body mass index also have higher percentage of blood pressure readings above 95th percentile and increased daytime blood pressure variability. Obese patients show non-dipping pattern, independently of the rising body mass index category.


Assuntos
Hipertensão , Obesidade Infantil , Masculino , Adolescente , Humanos , Criança , Pressão Sanguínea/fisiologia , Índice de Massa Corporal , Monitorização Ambulatorial da Pressão Arterial , Diástole , Ritmo Circadiano/fisiologia
3.
Acta Clin Croat ; 60(3): 544-547, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35282483

RESUMO

CYP24A1 is an enzyme that inactivates vitamin D and encodes vitamin D 24-hydroxylase. Mutations in this enzyme have been linked with idiopathic infantile hypercalcemia, nephrolithiasis, and nephrocalcinosis. Genetic testing for this mutation should be considered in the presence of calciuria, elevated serum calcium, elevated 1,25- dihydroxyvitamin D, and suppressed parathyroid hormone. We present a previously healthy eight-month-old male infant with macrohematuria, hypercalciuria (6 mg/kg/24 h), albuminuria (54 mg/24 h) and left-sided nephrolithiasis found on urinary tract ultrasound. The values of alpha 1 microglobulin, parathyroid hormone, vitamin D, serum electrolytes, amino acids, glycols, oxalates and citrates in urine, as well as coagulation tests were normal. Genetic testing excluded suspected Dent's disease but confirmed heterozygous missense variant CYP24A1 c.469C>T, p.(Arg157Trp) classified as polymorphism. He was treated with hydrochlorothiazide and potassium citrate. Children presenting with hypercalcemia, hypercalciuria and nephrolithiasis should be tested because of the importance of recognition, genetic diagnosis and proper treatment of CYP24A1 mutations that can present with a wide range of phenotypic presentations, from asymptomatic to chronic renal disease.


Assuntos
Hipercalcemia , Nefrocalcinose , Nefrolitíase , Criança , Humanos , Hipercalcemia/complicações , Hipercalcemia/diagnóstico , Hipercalcemia/genética , Hipercalciúria/complicações , Hipercalciúria/diagnóstico , Hipercalciúria/genética , Lactente , Masculino , Nefrocalcinose/diagnóstico , Nefrocalcinose/genética , Nefrolitíase/complicações , Nefrolitíase/genética , Vitamina D3 24-Hidroxilase/genética
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