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RESUMOObjetivos: Avaliar o crescimento e a composição corporal de diabéti-cos tipo 1, pré-púberes, em relação à idade de início e tempo da doença, sexo, dose de insulina e hemoglobina glicada média. Pacientes e métodos: Foram incluídas no estudo 59 crianças diabéticas (30 M; 29 F), entre 1,2 e 11,5 anos, e 67 controles (36 M; 31 F), entre 1,2 e 11,7 anos. Peso, altura, IMC, perímetro braquial, pregas cutâneas e áreas de massa gorda e muscular braquial foram avaliados e transformados em escore z. Resultados: Verificou-se que entre os diabéticos a média de escore z de altura foi -0,13 (± 0,97), enquanto no grupo controle foi de 0,28 (± 0,86) (p= 0,013). A diferença entre os escores de altura inicial e atual mostrou perda estatural (p< 0,001) e a análise multivariada demonstrou associação com tempo de doença. Também observouse diferença na área de gordura braquial (p< 0,001). As médias de escore z de peso, IMC, soma de 3 dobras e área muscular braquial não diferiram entre os grupos. Conclusões: As crianças diabéticas apresentaram perda de estatura durante o período de acompanhamento e eram significativamente mais baixas que os controles, embora suas alturas ainda estivessem dentro dos padrões de normalidade. Também mostraram área de gordura braquial aumentada em relação aos controles. Objective: To evaluate the growth and body composition of pre-pubertal diabetic children, and to check for influence of the age of diabetes onset and length, sex, insulin requirement and glycosylated hemoglobin. Patients and methods: 59 diabetic children (39 M; 29 F), age 1.2-11.5 years, and 67 controls (36 M; 31 F), age 1.2-11.7 years were included. Weight, height, body mass index (BMI), arm circumference, skin folds, fat mass and muscle areas were evaluated and transformed into standard deviation scores (SDS). Results: Among the diabetic children the mean height SDS was -0.13 (± 0.97) while in the control group it was 0.28 (± 0.86) (p= 0.013). The difference between the first and the current height SDS showed that the height SDS decreased significantly (p< 0.001) and multiple regression analysis indicated correlation with the duration of the disease. The mean arm fat SDS also revealed difference (p< 0.001). The means for weight, BMI, addition of 3 skinfolds and muscle mass did not demonstrate difference between the groups. Conclusions: The diabetic children showed reduction of height SDS during the period studied and they were significantly shorter than the controls, even though their statures were within the population standards. The arm fat area also showed to be increased in relation with the controls.

Objective: To evaluate clinical and laboratory profiles of patients with type 1 diabetes mellitus in three public hospitals in São Paulo, Brazil, since type 1 diabetes mellitus is a chronic illness that occurs mainly in the pediatric age group in the Brazilian population.Methods: Cross-sectional study with patients followed up in reference centers in São José do Rio Preto (FAMERP), Campinas (UNICAMP) and São Paulo (Conjunto Hospitalar do Mandaqui). Data about gender, age, diabetes duration, daily insulin dose, number of daily insulin injections, and glycosylated hemoglobin (HbA 1c ) were analyzed. Results:Two hundred and thirty-nine patients (131 females) were evaluated; mean age was 13.1±4.7 years and mean diabetes duration was 6.6±4.2 years. Daily insulin doses ranged from 0.1 to 1.78 units/kg/day (0.88±0.28), and 180 (74.7%) patients had two daily injections. HbA 1c ranged from 4.6 to 17.9% (10.0±2.3%). Conclusions:Although the hospitals included in this study are excellence centers for the follow-up of patients with diabetes in three municipalities in the state of São Paulo, one of the most developed states in Brazil, blood glucose control evaluated according to HbA 1c was not adequate. Findings confirm that, despite the efforts of all the professionals involved, great challenges still lie ahead.J Pediatr (Rio J). 2009;85(6):490-494 IntroduçãoO diabete melito tipo 1 (DMT1) é uma das doenças endócrinas mais sérias da infância e da adolescência. Sua incidência, que varia entre diferentes países e grupos ét-nicos, pode oscilar de 0,1 a 37,4/100.000 entre crianças de 0 a 14 anos 1 .O objetivo do tratamento do diabetes é alcançar equilíbrio metabólico e assegurar o bem-estar do paciente. As evidências mostram que um melhor controle da glicose sanguínea reduz o riso de complicações crônicas e está associado com uma melhor qualidade de vida 2 .

BackgroundPermanent neonatal diabetes mellitus (PNDM) is a rare disorder, characterized by uncontrolled hyperglycemia diagnosed during the first 6 months of life. In general, PNDM has a genetic origin and most frequently it results from heterozygous mutations in KCNJ11, INS and ABCC8 genes. Homozygous or compound heterozygous inactivating mutations in GCK gene as cause of PNDM are rare. In contrast, heterozygosis for GCK inactivating mutations is frequent and results in the maturity-onset diabetes of young (MODY), manifested by a mild fasting hyperglycemia usually detected later in life. Therefore, as an autosomal recessive disorder, GCK-PNDM should be considered in families with history of glucose intolerance or MODY in first relatives, especially when consanguinity is suspected.ResultsHere we describe two patients born from non-consanguineous parents within a family. They presented low birth weight with persistent hyperglycemia during the first month of life. Molecular analyses for KCNJ11,INS, ABCC8 did not show any mutation. GCK gene sequencing, however, revealed that both patients were compound heterozygous for two missense combined in a novel GCK-PNDM genotype. The p.Asn254His and p.Arg447Gly mutations had been inherited from their mothers and fathers, respectively, as their mothers are sisters and their fathers are brothers. Parents had been later diagnosed as having GCK-MODY.ConclusionsMutations’ in silico analysis was carried out to elucidate the role of the amino acid changes on the enzyme structure. Both p.Asn254His and p.Arg447Gly mutations appeared to be quite damaging. This is the first report of GCK-PNDM in a Brazilian family.

The prevalence found was 4.0%. This sample of celiac patients showed a predominance of gastrointestinal symptoms, although the celiac disease did not influence the diabetes control.