Hipotireoidismo adquirido tratado como obesidade exógena: a importância do controle do crescimento Acquired hypothyroidism treated as exogen obesity: the importance of growth follow-up

OBJETIVO: Demonstrar a importância da interpretação do acompanhamento pôndero-estatural de crianças e adolescentes obesos DESCRIÇÃO DO CASO: Menina de 12 anos e 11 meses encaminhada a um ambulatório terciário para acompanhamento de obesidade e dislipidemia. Referia ganho de peso a partir de oito anos, negava fazer atividade física e possuía alimentação adequada. Relatava obesidade na família do pai. Ao exame, bom estado geral, diminuição da pilificação e mixedema generalizados, pele ressecada e áspera. Peso com percentil entre 90 e 97, índice de massa corpórea (IMC) acima do percentil 97 e estatura abaixo do canal de crescimento. EXAMES LABORATORIAIS: T4: 0,04ng/ dL, TSH: >100uUI/mL, colesterol total: 326mg/ dL, HDL colesterol: 34mg/ dL, LDL colesterol: 45mg/ dL, triglicérides: 1599mg/ dL, glicemia em jejum: 81mg/dL e hemograma com discreta anemia normocrômica e normocítica. Fez-se o diagnóstico de hipotireoidismo e introduziu-se hormônio tireoidiano com boa resposta. A paciente trouxe 23 medidas prévias de peso e estatura, mostrando comprometimento de estatura e aumento de peso não valorizado. COMENTÁRIOS: A análise dos gráficos de crescimento é fundamental para o acompanhamento de todas as crianças e adolescentes, principalmente aquelas com sobrepeso e obesidade. A desaceleração da curva de crescimento em altura sugere doença associada; neste caso, o hipotireoidismo adquirido.<br>OBJECTIVE: To show the value of using the follow-up growth charts in clinical evaluation of obese children and adolescents. CASE DESCRIPTION: A 12 years and 11 months-old girl referred to a tertiary out-patient clinic to evaluate obesity and lipid abnormalities. She had weight gain since eight years old, had no physical activity and followed adequate eating habits. Obesity was referred in father's family. In physical examination, she looked well, with lack of body hair, generalized mixedema, dry and rough skin. Weight was between percentile 90 and 97; BMI was over the percentile 97 and height was under the growth channel. LABORATORY EXAMS: T4: 0.04ng/dL, TSH: >100uUI/mL, total cholesterol: 326mg/dL, HDL cholesterol: 34mg/ dL, LDL cholesterol: 45mg/dL, triglycerides: 1599mg/dL, fasting glicose: 81mg/dL and hemogram with normocromic and normocytic anemia. Hypothyroidism diagnosis was made and thyroid hormone was introduced with good response. The patient brought 23 previous heights and weight measurements, which showed height drop and weight gain in the growth chart, all of them undervalued. COMMENTS: Growth chart analysis is important for the follow-up of children and adolescents, especially those with overweight and obesity. The linear growth slowing suggests an associated sickness; in this case, an acquired hypothyroidism

Diagnostic And Management Practices for Phenylketonuria iin 19 Countries of The South And Eastern European Region: Survey Results

To avoid potentially severe outcomes, phenylketonuria (PKU) must be detected as soon as possible after birth and managed with life-long treatment. A questionnaire-based survey was performed to document diagnosis and management practices for PKU in a region of Southern and Eastern Europe. Prevalence and management data were obtained from 37/59 (63 %) centres within 19/22 (86 %) contacted countries (N = 8600 patients). The main results’ analysis was based on completed questionnaires obtained from 31 centres (53 %) within 15 countries (68 %). A median of 10 % of patients per centre had been diagnosed after the newborn period. Metabolic dieticians and specialised adult PKU clinics were lacking in 36 and 84 % of centres, respectively. In 26 % of centres, treatment initiation was delayed until >15 days of life. Blood phenylalanine (Phe) thresholds to start treatment and upper Phe targets were inconsistent across centres. Ten percent of centres reported monitoring Phe every 2 weeks for pregnant women with PKU, which is insufficient to minimise risk of neonatal sequalae. Sapropterin dihydrochloride treatment was available in 48 % of centres, with 24-h responsiveness tests most common (36 %). Only one centre among the five countries lacking newborn screening provided a completed questionnaire., Conclusion: Targeted efforts by health care professionals and governments are needed to optimise diagnostic and management approaches for PKU in Southern and Eastern Europe.“What is Known”• PKU must be detected early and optimally managed throughout life to avoid poor outcomes, yet newborn screening is not universal and diagnostic and management practices for PKU are known to vary widely between different centres and countries. • Targeted efforts by health care professionals and governments are needed to optimise diagnostic and management approaches. “What is New”• PKU management practices are documented in 19 South and Eastern European countries indicating a heterogeneous situation across the region. • Key areas for improvement identified in surveyed centres include a need for comprehensive screening in all countries, increased number of metabolic dietitians and specialised adult PKU clinics, delayed time to treatment initiation, appropriate Phe thresholds, Phe targets and monitoring frequencies, and universal access to currently available treatment options.PubMedWoSScopu

Avaliação econômica em saúde: triagem neonatal da galactosemia Newborn screening for galactosemia: a health economics evaluation

Este trabalho avalia a eficiência da adição do exame da galactosemia junto ao Teste do Pezinho. Baseado na incidência média estimada de galactosemia, de 1:19.984 recém-nascidos, no Estado de São Paulo, Brasil, este estudo desenvolve um modelo de análise de custo-benefício, utilizando a relação benefício/custo (B/C), a taxa de juros de 9,25% ao ano para descapitalização dos resultados obtidos. Também se realiza uma análise de sensibilidade, em função da variação da taxa de juros entre 0 e 20% e do intervalo de 95% de confiança da incidência da galactosemia (1:7.494 a 1:59.953 recém-nascidos). A economia obtida com a melhora da saúde das crianças doentes identificadas precocemente é superior aos custos (B/C = 1,33), caracterizando como eficiente a política de adição do exame neonatal para galactosemia no Teste do Pezinho. Quanto menor a taxa de juros vigente na economia, mais eficiente é a política de triagem neonatal, não considerados os custos sociais intangíveis evitados.<br>This study assesses the efficiency of the galactosemia add-on test in neonatal screening performed on regular Guthrie card blood spots. Based on estimated average incidence of galactosemia (1:19,984 newborns) in São Paulo State, Brazil, the study develops a cost-benefit analysis model, using a B/C ratio and a 9.25% annual interest rate in order to decapitalize the results. Sensitivity analysis is also performed, varying (as a function of the interest or discount rate) from 0 and 20% and according to the 95% confidence interval (1:7,494-1:59,953 newborns). The results show that the savings obtained by improved health of galactosemic patients detected early by add-on neonatal screening is superior to the costs (B/C=1.33), characterizing galactosemia add-on testing in neonatal screening as an efficient policy. The lower the prevailing interest rate in the economy, the more efficient the neonatal screening policy