Atypical presentation of familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a patient with a new claudin-16 gene mutation.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubular disorder caused by mutations in genes that encode renal tight junction proteins claudin-16 or claudin-19, which are responsible for magnesium and calcium paracellular reabsorption in the thick ascending limb of Henle's loop. Progressive renal failure is frequently present, and most of the patients require renal replacement therapy still during adolescence. In this case report, we describe a new homozygous missense mutation on CLDN16 gene (c.592G>C, Gly198Arg) in a 24-year-old male patient diagnosed with FHHNC after clinical investigation due to incidental detection of altered routine laboratorial tests, who was firstly misdiagnosed with primary hyperparathyroidism. In addition, it illustrates an atypical presentation of this disease, with late onset of chronic kidney disease, improving the phenotype-genotype knowledge of patients with FHHNC.

Sitting-height measures are related to body mass index and blood pressure levels in children.

OBJECTIVE: Sitting height (SH) is an important parameter in the evaluation of children with growth and pubertal disorders. Besides this, it has been viewed as a biomarker of cardiovascular risk, which is increased in adults with relatively short legs. So, the aim of this study was to evaluate the relationship between body proportions and cardiovascular risk markers in children. SUBJECTS AND METHODS: Eight hundred and seventeen children aged 6-13 years were evaluated. Weight, height, sitting-height (SH), sitting-height/height (SH/H), body mass index (BMI) and blood pressure (BP) were assessed and converted to standard deviation scores (SDS) for age and sex. Statistical analyses were performed. RESULTS: There was a positive association of BMI SDS with SH and SH/H SDS (p<0.001). Overweight children showed SH 0.8 SDS superior to eutrophic children (p<0.001). SH SDS was also directly related to BP SDS, but this association was not independent of the association between obesity and BP when assessed by multiple regression analyzes. CONCLUSION: Measures of SH are strongly associated with BMI and BP in children, although the association between SH and BP is probably dependent on the association of both those variables with BMI. This is (an) important information for correct interpretation of SH values in children.

Sitting-height measures are related to body mass index and blood pressure levels in children / Correlações entre altura sentada, índice de massa corpórea e pressão arterial em crianças

Objective Sitting height (SH) is an important parameter in the evaluation of children with growth and pubertal disorders. Besides this, it has been viewed as a biomarker of cardiovascular risk, which is increased in adults with relatively short legs. So, the aim of this study was to evaluate the relationship between body proportions and cardiovascular risk markers in children. Subjects and methods: Eight hundred and seventeen children aged 6‐13 years were evaluated. Weight, height, sitting-height (SH), sitting-height/height (SH/H), body mass index (BMI) and blood pressure (BP) were assessed and converted to standard deviation scores (SDS) for age and sex. Statistical analyses were performed. Results There was a positive association of BMI SDS with SH and SH/H SDS (p<0.001). Overweight children showed SH 0.8 SDS superior to eutrophic children (p<0.001). SH SDS was also directly related to BP SDS, but this association was not independent of the association between obesity and BP when assessed by multiple regression analyzes. Conclusion Measures of SH are strongly associated with BMI and BP in children, although the association between SH and BP is probably dependent on the association of both those variables with BMI. This is (an) important information for correct interpretation of SH values in children. .

Objetivo A altura sentada (sitting height, SH) é um importante parâmetro na avaliação de crianças com distúrbios do crescimento e da puberdade. Além disso, tem sido vista como um marcador de risco cardiovascular, aumentado em adultos com pernas relativamente curtas. O objetivo deste estudo foi avaliar a relação entre proporções corporais e marcadores de risco cardiovascular em crianças. Sujeitos e métodos: Oitocentas e dezessete crianças de 6 a 13 anos foram avaliadas. Peso, altura, altura sentada (SH), altura sentada/total (SH/H), índice de massa corpórea (IMC) e pressão arterial (PA) foram avaliados e convertidos em Z escores ajustados para sexo e idade. Análises estatísticas apropriadas foram desenvolvidas. Resultados Houve associação positiva do Z-IMC com o SH e o SH/H (p<0,001). Crianças com excesso de peso demonstraram Z-SH 0,8 superior ao de crianças eutróficas (p<0,001). O Z-SH também apresentou correlação direta com o Z-PA, mas essa associação não foi independente da relação entre IMC e PA quando analisada por meio de regressão linear múltipla. Conclusão Medidas de SH são fortemente associadas ao IMC e PA em crianças, embora a associação entre SH e PA seja provavelmente dependente da associação de ambas as variáveis com o IMC. Essa é uma importante informação para a correta interpretação dos valores de SH em crianças. .

High blood pressure in children and its correlation with three definitions of obesity in childhood.

BACKGROUND: Several authors have correlated the increase of cardiovascular risk with the nutritional status, however there are different criteria for the classification of overweight and obesity in children. OBJECTIVES: To evaluate the performance of three nutritional classification criteria in children, as definers of the presence of obesity and predictors of high blood pressure in schoolchildren. METHODS: Eight hundred and seventeen children ranging 6 to 13 years old, enrolled in public schools in the municipality of Vila Velha (ES) were submitted to anthropometric evaluation and blood pressure measurement. The classification of the nutritional status was established by two international criteria (CDC/NCHS 2000 and IOTF 2000) and one Brazilian criterion (Conde e Monteiro 2006). RESULTS: The prevalence of overweight was higher when the criterion of Conde e Monteiro (27%) was used, and inferior by the IOTF (15%) criteria. High blood pressure was observed in 7.3% of children. It was identified a strong association between the presence of overweight and the occurrence of high blood pressure, regardless of the test used (p<0.001). The test showing the highest sensitivity in predicting elevated BP was the Conde e Monteiro (44%), while the highest specificity (94%) and greater overall accuracy (63%), was the CDC criterion. CONCLUSIONS: The prevalence of overweight in Brazilian children is higher when using the classification criterion of Conde e Monteiro, and lower when the criterion used is IOTF. The Brazilian classification criterion proved to be the most sensitive predictor of high BP risk in this sample.

Pressao arterial elevada em criancas e sua correlacao com tres definicoes de obesidade infantil / High blood Pressure in children and its correlation with three definitions of obesity in childhood

FUNDAMENTO: Diversos autores correlacionaram o aumento do risco cardiovascular com o estado nutricional, porém existem diferentes critérios para a classificação de sobrepeso e obesidade em crianças. Objetivos: Avaliar o desempenho de três critérios de classificação nutricional em crianças, como definidores da presença de obesidade e preditores de níveis pressóricos elevados em escolares. MÉTODOS: Oitocentas e dezessete crianças de 6 a 13 anos matriculadas em escolas públicas do município de Vila Velha (ES) foram submetidas a avaliação antropométrica e de pressão arterial. A classificação quanto ao estado nutricional foi estabelecida mediante dois critérios internacionais (CDC/NCHS 2000 e IOTF 2000) e um critério brasileiro (Conde e Monteiro 2006). RESULTADOS: A prevalência de excesso de peso foi maior quando utilizado o critério de Conde e Monteiro (27%), e menor pelo critério do IOTF (15%). Pressão arterial elevada foi observada em 7,3% das crianças. Identificou-se forte associação entre a presença de excesso de peso e a ocorrência de níveis pressóricos elevados, independentemente do critério utilizado (p < 0,001). O critério que demonstrou maior sensibilidade em prever PA elevada foi o de Conde e Monteiro (44%), enquanto o de maior especificidade (94%), além de maior acurácia geral (63%), foi o do CDC. CONCLUSÕES: A prevalência de excesso de peso em crianças brasileiras é maior quando utilizado o critério de classificação de Conde e Monteiro, e menor quando utilizado o critério do IOTF. O critério de classificação brasileiro demonstrou ser o mais sensível como preditor de risco de PA elevada nessa amostra. .

BACKGROUND: Several authors have correlated the increase of cardiovascular risk with the nutritional status, however there are different criteria for the classification of overweight and obesity in children. OBJECTIVES: To evaluate the performance of three nutritional classification criteria in children, as definers of the presence of obesity and predictors of high blood pressure in schoolchildren. METHODS: Eight hundred and seventeen children ranging 6 to 13 years old, enrolled in public schools in the municipality of Vila Velha (ES) were submitted to anthropometric evaluation and blood pressure measurement. The classification of the nutritional status was established by two international criteria (CDC/NCHS 2000 and IOTF 2000) and one Brazilian criterion (Conde e Monteiro 2006). RESULTS: The prevalence of overweight was higher when the criterion of Conde e Monteiro (27%) was used, and inferior by the IOTF (15%) criteria. High blood pressure was observed in 7.3% of children. It was identified a strong association between the presence of overweight and the occurrence of high blood pressure, regardless of the test used (p < 0.001). The test showing the highest sensitivity in predicting elevated BP was the Conde e Monteiro (44%), while the highest specificity (94%) and greater overall accuracy (63%), was the CDC criterion. CONCLUSIONS: The prevalence of overweight in Brazilian children is higher when using the classification criterion of Conde e Monteiro, and lower when the criterion used is IOTF. The Brazilian classification criterion proved to be the most sensitive predictor of high BP risk in this sample. .

Evidence of underdiagnosis and markers of high blood pressure risk in children aged 6 to 13 years / Evidências de subdiagnóstico e marcadores de risco de pressão arterial elevada em crianças de 6 a 13 anos

OBJECTIVE: To estimate the prevalence of high blood pressure (BP) in school children, as well as the reported frequency of previous measurements of BP in these children, and to identify high BP risk markers in the sample. METHODS: This was a cross-sectional study involving 794 children aged 6 to 13 years, enrolled in public elementary schools. A questionnaire was given to parents/guardians, consisting of perinatal, socioeconomic data, and information on previous measurements of BP in these children. Anthropometric measurements included weight, height, waist, hip, and arm and neck circumference, in addition to the three BP measurements. Classification of BP levels was carried out according to current international recommendations, established in 2004. RESULTS: The prevalence of high BP (hypertension or prehypertension) was 7%. Only 21.7% of children had previously undergone BP measurements. The odds ratio of high BP among children with and without overweight was 2.9 (95% CI = 1.7 to 5.0, p < 0.001). None of the anthropometric measurements was superior to the Z-score of BMI as a predictor of high BP. History of hypertension during pregnancy (p < 0.001), prematurity (p = 0.006), maternal hypertension (p = 0.01), and paternal hypertension (p = 0.008) were also correlated with the presence of high BP in children. CONCLUSIONS: Overweight and family history constitute the main risk markers of high BP in children. The low frequency of BP measurement in children observed in this municipality contributes to the underdiagnosis of the disease, with irreversible consequences for these individuals. .

OBJETIVO: Estimar a prevalência de pressão arterial (PA) elevada em escolares, assim como a frequência relatada de aferição prévia da PA nessas crianças. Identificar marcadores de risco de PA elevada na amostra. MÉTODOS: Estudo transversal envolvendo 794 crianças de 6 a 13 anos, matriculadas no ensino público fundamental. Questionário entregue aos pais, com informações perinatais, sócio-econômicas e sobre aferição prévia da PA nas crianças. Avaliação antropométrica: peso, altura, circunferências abdominal, de quadril, braquial e cervical, além das três aferições da pressão arterial. Classificação dos níveis pressóricos conforme as recomendações internacionais atuais, estabelecidas em 2004. RESULTADOS: A prevalência de PA elevada (hipertensão ou pré-hipertensão) foi de 7%. Apenas 21,7% das crianças haviam sido previamente submetidas a aferições de PA. A razão de chances de PA elevada entre crianças com e sem excesso de peso foi de 2,9 (IC 95% = 1,7 a 5,0, p < 0,001). Nenhuma das medidas antropométricas foi superior ao Z de IMC como preditor de PA elevada. Histórico de hipertensão na gestação (p < 0,001), de prematuridade (p = 0,006), hipertensão materna (p = 0,01) e hipertensão paterna (p = 0,008) também se correlacionaram à presença de PA elevada nas crianças. CONCLUSÕES: Excesso de peso e história familiar configuram como principais marcadores de risco de PA elevada em crianças. A baixa frequencia de aferição da PA observada em crianças deste município contribui para o subdiagnóstico da doença, com consequências futuras irreversíveis para esses indivíduos. .

Evidence of underdiagnosis and markers of high blood pressure risk in children aged 6 to 13 years.

OBJECTIVE: To estimate the prevalence of high blood pressure (BP) in schoolchildren, as well as the reported frequency of previous measurements of BP in these children, and to identify high BP risk markers in the sample. METHODS: This was a cross-sectional study involving 794 children aged 6 to 13 years, enrolled in public elementary schools. A questionnaire was given to parents/guardians, consisting of perinatal, socioeconomic data, and information on previous measurements of BP in these children. Anthropometric measurements included weight, height, waist, hip, and arm and neck circumference, in addition to the three BP measurements. Classification of BP levels was carried out according to current international recommendations, established in 2004. RESULTS: The prevalence of high BP (hypertension or prehypertension) was 7%. Only 21.7% of children had previously undergone BP measurements. The odds ratio of high BP among children with and without overweight was 2.9 (95% CI=1.7 to 5.0, p<0.001). None of the anthropometric measurements was superior to the Z-score of BMI as a predictor of high BP. History of hypertension during pregnancy (p<0.001), prematurity (p=0.006), maternal hypertension (p=0.01), and paternal hypertension (p=0.008) were also correlated with the presence of high BP in children. CONCLUSIONS: Overweight and family history constitute the main risk markers of high BP in children. The low frequency of BP measurement in children observed in this municipality contributes to the underdiagnosis of the disease, with irreversible consequences for these individuals.

The -202 A allele of insulin-like growth factor binding protein-3 (IGFBP3) promoter polymorphism is associated with higher IGFBP-3 serum levels and better growth response to growth hormone treatment in patients with severe growth hormone deficiency.

CONTEXT: Genetic factors that influence the response to recombinant human GH (rhGH) therapy remain mostly unknown. To date, only the GH receptor gene has been investigated. OBJECTIVE: The aim of the study was to assess the influence of a polymorphism in the IGF-binding protein-3 (IGFBP-3) promoter region (-202 A/C) on circulating IGFBP-3 levels and growth response to rhGH therapy in children with GH deficiency (GHD). DESIGN AND PATIENTS: -202 A/C IGFBP3 genotyping (rs2854744) was correlated with data of 71 children with severe GHD who remained prepubertal during the first year of rhGH treatment. MAIN OUTCOME MEASURES: We measured IGFBP-3 levels and first year growth velocity (GV) during rhGH treatment. RESULTS: Clinical and laboratory data at the start of treatment were indistinguishable among patients with different -202 A/C IGFBP3 genotypes. Despite similar rhGH doses, patients homozygous for the A allele presented higher IGFBP-3 sd score levels and higher mean GV in the first year of rhGH treatment than patients with AC or CC genotypes (first year GV, AA = 13.0 +/- 2.1 cm/yr, AC = 11.4 +/- 2.5 cm/yr, and CC = 10.8 +/- 1.9 cm/yr; P = 0.016). Multiple linear regression analyses demonstrated that the influence of -202 A/C IGFBP3 genotype on IGFBP-3 levels and GV during the first year of rhGH treatment was independent of other variables. CONCLUSION: The -202 A allele of IGFBP3 promoter region is associated with increased IGFBP-3 levels and GV during rhGH treatment in prepubertal GHD children.