ABSTRACT
Objetivos: Valorar la eficacia y la seguridad del tratamiento con infusión subcutánea continua de insulina (ISCI) en niños menores de 6 años durante periodos prolongados de tiempo y evaluar si alcanzan criterios de adecuado control glucémico. Métodos: Estudio retrospectivo de 27 niños que iniciaron tratamiento con ISCI entre 2003-2014. Edad de inicio de ISCI: 4 años (2,9-4,7); 56% varones. Se recogen: edad de inicio de diabetes, tiempo de evolución de diabetes, HbA1c (HPLC Menarini, valor normal 5,1±0,31%), dosis insulina (u/kg/día), número de controles de glucosa capilar/día, número de tramos basales/día, porcentaje de insulina basal, ratios insulina/ración hidratos carbono (I/HC), episodios de hipoglucemia grave y de CAD (episodios/100 pacientes-año), porcentajes de normoglucemia (70-180mg/dl), hiperglucemia (> 180mg/dl) e hipoglucemia (<70mg/dl), glucemia media, desviación estándar y coeficiente variación ([desviación estándar/glucemia media]×100). Análisis estadístico por SPSS. Resultados: La HbA1c disminuye de 6,9%(6,7-7,5) a 6,8%(6,4-7,1) el primer año, posteriormente se mantiene <6,8% durante el periodo de seguimiento (mediana 5 años [3-6]). Antes de ISCI el 74% tenían HbA1c <7,5% y al año el 96%. Media de controles de glucosa capilar/día de 10(9-11). No se observaron cambios significativos en la dosis de insulina. Hubo un episodio de CAD y un episodio de hipoglucemia grave durante el seguimiento. La ratio I/HC al desayuno fue superior a la de otras ingestas (0,92u/r vs. 0,55, 0,6 y 0,5 en comida, merienda y cena). Conclusiones: El tratamiento con ISCI es eficaz y seguro en menores de 6 años durante periodos prolongados de tiempo. Permite alcanzar los objetivos de buen control metabólico recomendados por la Asociación Americana de Diabetes y la Sociedad Internacional de Diabetes Pediátrica y del Adolescente, sin incremento de efectos adversos (AU)
Objective: The aims of the study are to evaluate the efficacy and safety of continuous subcutaneous insulin infusion (CSII) treatment in pre-school children with type I diabetes, and to assess whether the criteria of good metabolic control are achieved. Method: A review was performed on the medical charts of patient's < 6 years of age who started CSII treatment between 2003 and 2014. The cohort consisted of 27 patients (mean age 4 (2.9-4.7) years, 56% males). An analysis was made including the age at onset, type I diabetes duration, HbA1c (HPLC, Menarini, normal value 5.1 ± 0.31%), insulin dose (u/kg/day), number of capillary blood glucose measurements, number of baseline processes per day, % baseline/total insulin (B/TI), insulin ratios (I/HC) at different meals, severe hypoglycaemia (HS episodes/100 patients years), DKA events, percentages of normal blood glucose (70-180mg/dl), hyperglycaemia (>180mg/dl), and hypoglycaemia (<70 mg/dl), mean blood glucose, standard deviation and coefficient of variation (SD/mean glucose ×100). Statistical analysis was performed using SPSS. Results: HbA1c decreased from 6.9% (6.7-7.5) to 6.8% (6.4-7.1) after one year of CSII. Afterwards, it remained under 6.8% during the follow-up (median 5 years [3-6]). Prior to CSII, 74% of children had HbA1c levels < 7.5%. It increased to 96% after one year of CSII. Median blood glucose measurements /day was 10 (9-11). Total insulin dose did not change significantly. During the follow-up, there was one episode of DKA and one episode of HS. I/HC at breakfast were higher than at other meals (0.92 vs. 0.55, 0.6 and 0.5, respectively). Conclusions: CSII is effective and safe in pre-school children. It allows good metabolic control (based on Society for Paediatric and Adolescent Diabetes / American Diabetes Association criteria) to be achieved and maintained for long periods of time without an increase in adverse events (AU)
Subject(s)
Humans , Child, Preschool , Insulin Infusion Systems , Diabetes Mellitus, Type 1/drug therapy , Glycated Hemoglobin/analysis , Insulin/administration & dosage , Time , Retrospective Studies , Glycemic Index , Infusions, SubcutaneousABSTRACT
OBJECTIVE: The aims of the study are to evaluate the efficacy and safety of continuous subcutaneous insulin infusion (CSII) treatment in pre-school children with type I diabetes, and to assess whether the criteria of good metabolic control are achieved. METHOD: A review was performed on the medical charts of patient's<6 years of age who started CSII treatment between 2003 and 2014. The cohort consisted of 27 patients (mean age 4 (2.9-4.7) years, 56% males). An analysis was made including the age at onset, type I diabetes duration, HbA1c (HPLC, Menarini, normal value 5.1±0.31%), insulin dose (u/kg/day), number of capillary blood glucose measurements, number of baseline processes per day, % baseline/total insulin (B/TI), insulin ratios (I/HC) at different meals, severe hypoglycaemia (HS episodes/100 patients years), DKA events, percentages of normal blood glucose (70-180mg/dl), hyperglycaemia (>180mg/dl), and hypoglycaemia (<70mg/dl), mean blood glucose, standard deviation and coefficient of variation (SD/mean glucose ×100). Statistical analysis was performed using SPSS. RESULTS: HbA1c decreased from 6.9% (6.7-7.5) to 6.8% (6.4-7.1) after one year of CSII. Afterwards, it remained under 6.8% during the follow-up (median 5 years [3-6]). Prior to CSII, 74% of children had HbA1c levels < 7.5%. It increased to 96% after one year of CSII. Median blood glucose measurements /day was 10 (9-11). Total insulin dose did not change significantly. During the follow-up, there was one episode of DKA and one episode of HS. I/HC at breakfast were higher than at other meals (0.92 vs. 0.55, 0.6 and 0.5, respectively). CONCLUSIONS: CSII is effective and safe in pre-school children. It allows good metabolic control (based on Society for Paediatric and Adolescent Diabetes / American Diabetes Association criteria) to be achieved and maintained for long periods of time without an increase in adverse events.
Subject(s)
Diabetes Mellitus, Type 1/drug therapy , Hypoglycemic Agents/administration & dosage , Insulin/administration & dosage , Child , Child, Preschool , Female , Guideline Adherence , Humans , Infusions, Subcutaneous , Male , Retrospective Studies , Time Factors , Treatment OutcomeABSTRACT
AIMS: To evaluate the efficacy and safety of Continuous Subcutaneous Insulin Infusion (CSII) in a pediatric cohort and to determine if the ISPAD/IDF/ADA criteria for good metabolic control are achieved during long periods of time. METHODS: Retrospective longitudinal study including ninety patients [10.5 (6.5-13.9) years of age, 58% males]. Age at debut, type 1 diabetes mellitus duration, pubertal stage, HbA1c, insulin dose, mean number of glycemic controls, number of basal rates, % basal/total insulin, severe hypoglycemia and diabetic ketoacidosis events were analyzed. Subgroup analysis based on age and pubertal stage was performed. RESULTS: HbA1c decreased from 6.9% [52 mmol/mol] to 6.7% [50 mmol/mol] after one year of CSII. Afterwards, it remained less than 7% during the follow-up period (median 3.5 ± 1.8 years (range 1-8). Prior to CSII, 76% of the subjects met ISPAD/ADA criteria. One year after initiating CSII, 96% of children had HbA1c<7.5%. Improvement in glycohemoglobin levels was most prominent in those patients with the highest HbA1c initial levels. Total insulin dose decreased from 0.89 to 0.73 UI/kg/day (p<0.001). Proportion of basal/total insulin changed significantly (47 to 42% (p<0.05)). Number of fractions of the basal rate increased from 5.6 ± 1.8 at one year of CSII to 6.7 ± 2.1 five years later. Incidence of severe hypoglycemic events decreased from 19 to 6.9 episodes/100 patient-year. Only 2 episodes of diabetic ketoacidosis occurred. CONCLUSIONS: CSII allows reaching ISPAD/IDF/ADA goals safely during an extended follow-up period in a diabetic pediatric cohort.
Subject(s)
Blood Glucose/drug effects , Diabetes Mellitus, Type 1/drug therapy , Hypoglycemic Agents/administration & dosage , Insulin Infusion Systems/statistics & numerical data , Insulin/administration & dosage , Adolescent , Blood Glucose/metabolism , Body Mass Index , Child , Child, Preschool , Diabetes Mellitus, Type 1/blood , Diabetes Mellitus, Type 1/complications , Diabetic Ketoacidosis/epidemiology , Diabetic Ketoacidosis/etiology , Female , Glycated Hemoglobin/metabolism , Humans , Hypoglycemia/chemically induced , Hypoglycemia/epidemiology , Incidence , Longitudinal Studies , Male , Retrospective Studies , Spain/epidemiologyABSTRACT
BACKGROUND: The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We describe the first case of this unusual association diagnosed in the neonatal period, the clinical findings and the molecular studies undertaken. CASE PRESENTATION: The boy was born at term with clinical and radiological features indicating the diagnosis of achondroplasia or hypochondroplasia combined with the prenatal karyotype of Klinefelter syndrome (47,XXY). Neonatal FGFR3 mutation screening showed that the newborn was heterozygous for the classic achondroplasia G340R mutation. Microsatellite marker analysis showed that the sex chromosome aneuploidy had arisen from a non-disjunction error in paternal meiosis I, with a recombination event in the pseudoautosomal region 1 (PAR1). CONCLUSION: Specific mutation analysis is appropriate to confirm the clinical diagnosis of achondroplasia for appropriate diagnosis, prognosis, and genetic counseling, especially when the karyotype does not explain the abnormal prenatal sonographic findings. In the present case, a recombination event was observed in the PAR1 region, although recombinational events in paternally derived Klinefelter syndrome cases are much rarer than expected.
Subject(s)
Achondroplasia/diagnosis , Klinefelter Syndrome/diagnosis , Achondroplasia/complications , Achondroplasia/genetics , Genetic Markers , Genetic Testing , Humans , Infant, Newborn , Klinefelter Syndrome/complications , Klinefelter Syndrome/genetics , Male , Nondisjunction, Genetic , Prenatal Diagnosis , Receptor, Fibroblast Growth Factor, Type 3/geneticsABSTRACT
The aim of this study is to determine the proper initial dose adjustment when switching from multiple daily injections to continuous subcutaneous insulin infusion for type-1 diabetic pediatric patients. Our hypothesis is that the insulin adjustment varies depending on the pubertal status and the previous long-acting insulin used. Charts of 60 patients were reviewed. Data regarding insulin dose, type of insulin administrated, HbA1c, BMI, severe hypoglycemia and DKA events were collected during the previous year and after 6 weeks of pump therapy. In the prepubertal patients the reduction was 19% (26% if the previous insulin used was detemir). Pubertal patients experienced a decrease of 26%, and the detemir group 33%. The ratio long acting-basal/short acting-bolus insulin changed from 1.26 ± 0.84 to 0.93 ± 0.46 (P < 0.05). The total daily insulin dose needs to be decreased. Basal insulin constitutes 40-45% in prepubertal and 45-50% in pubertal patients. The reduction is different depending on the previous long-acting insulin used; being greater if the insulin is detemir.
Subject(s)
Diabetes Mellitus, Type 1/drug therapy , Drug Dosage Calculations , Hypoglycemic Agents/administration & dosage , Insulin/administration & dosage , Child , Child, Preschool , Diabetes Mellitus, Type 1/metabolism , Female , Glycated Hemoglobin/metabolism , Humans , Infant , Injections, Subcutaneous , Insulin Infusion Systems , Insulin, Long-Acting/administration & dosage , Male , Retrospective StudiesABSTRACT
BACKGROUND AND OBJECTIVE: Hypogonadotropic hypogonadism and anosmia characterize Kallmann's syndrome, whose X-linked form is due to mutations in the KAL1 gene. We studied a family with 6 affected members. PATIENTS AND METHOD: We compare their clinical (chryptorchidism, micropenis, puberty, associated malformations), analytical (gonadotrophin releasing hormone test, and human chorionic gonadotropin test), genetic (cariotype), and radiological data of the described familiar cases with other reported sporadic cases. RESULTS: The described cases carried the R191X mutation. We found phenotypic heterogeneity between the patients. CONCLUSIONS: We report the first familiar cases of Kallmann's syndrome due to the R191X mutation. Probably other genes and/or epigenetic factors determine the phenotype.
Subject(s)
Genetic Diseases, X-Linked/genetics , Genetic Heterogeneity , Kallmann Syndrome/genetics , Child, Preschool , Humans , Infant , Male , PedigreeABSTRACT
Fundamento y objetivo: El síndrome de Kallmann se caracteriza por hipogonadismo hipogonadotropo y anosmia, y su forma ligada al cromosoma X se debe a mutaciones en el gen KAL1. Estudiamos a una familia con 6 miembros afectados por dicho síndrome. Pacientes y método: Comparamos las características clínicas (criptorquidia, micropene, pubertad, malformaciones asociadas), analíticas (test de la hormona liberadora de gonadotropinas y test de gonadotropina coriónica humana), genéticas (cariotipo) y radiológicas de los casos familiares con las de otros casos esporádicos de la bibliografía. Resultados: Los casos descritos eran portadores de la mutación R191X. Encontramos una gran heterogeneidad fenotípica entre los casos familiares y esporádicos de esta mutación. Conclusiones: Describimos los primeros casos conocidos de síndrome de Kallmann por la mutación R191X. Probablemente otros genes y/o factores epigenéticos influyen en el fenotipo
Background and objective: Hypogonadotropic hypogonadism and anosmia characterize Kallmann's syndrome, whose X-linked form is due to mutations in the KAL1 gene. We studied a family with 6 affected members. Patients and method: We compare their clinical (chryptorchidism, micropenis, puberty, associated malformations), analytical (gonadotrophin releasing hormone test, and human chorionic gonadotropin test), genetic (cariotype), and radiological data of the described familiar cases with other reported sporadic cases. Results: The described cases carried the R191X mutation. We found phenotypic heterogeneity between the patients. Conclusions: We report the first familiar cases of Kallmann's syndrome due to the R191X mutation. Probably other genes and/or epigenetic factors determine the phenotype
Subject(s)
Male , Humans , Kallmann Syndrome/genetics , Genetic Diseases, X-Linked/genetics , Mutation/genetics , Hypogonadism/genetics , Olfaction Disorders/geneticsABSTRACT
OBJECTIVE: Obesity is associated with insulin-resistance (IR), type 2 diabetes (T2D) and a constellation of cardiovascular risk factors at the early years of life. These features define the so-called metabolic syndrome (MS). AIMS: To assess the frequency of the MS among obese pediatric Spanish population and analyse the individual contribution and the predictive potential of individual components to the development of the syndrome. PATIENTS AND METHODS: A total of 429 patients, 220 boys and 209 girls, aged 4-18 years, with a body mass index of >2 standard deviation scores for Spanish normative charts, were included in the study. Forty-seven percent were prepubertal and ten percent had Hispanic ethnicity. HbA1c, lipids, liver enzymes and uric acid levels were determined from blood and a standard 2-h oral glucose tolerance test was performed. MS was defined by the National Cholesterol Education Program's Adult Treatment Panel III criteria modified by Cook as having at least three features among: obesity, low high-density lipoprotein (HDL), hypertriglyceridemia, hypertension (HTA) or impaired glucose metabolism (IGM). We defined IR as homeostatic model assessment of IR index and/or fasting insulin levels>95th centile of the control population. RESULTS: Almost 18% of the patients had MS, with significantly higher frequency in Hispanic (32%) than in Caucasian (16%) population. There were no differences by sex or pubertal status. Prevalence of low HDL, HTA, hypertriglyceridemia and IGM were 27, 23, 16 and 7% respectively. No silent T2D was identified. According to International Obesity Task Force charts, 22% of the patients were overweight and not obese, but no differences in the frequency of individual features of MS between these two groups were observed. Among IR patients (35% of our population), the frequency of MS reached 28%. IR predicted the presence of MS independently from age and race. CONCLUSION: MS is present in 18% of our obese pediatric population. IR is closely associated with the components of MS and strongly predicts its development.
Subject(s)
Metabolic Syndrome/epidemiology , Obesity/epidemiology , Adolescent , Body Weight , Child , Child, Preschool , Cholesterol, HDL/blood , Female , Humans , Hypertension/epidemiology , Hypertriglyceridemia/epidemiology , Logistic Models , Male , Prevalence , Risk Factors , Spain/epidemiologySubject(s)
Glucose Intolerance/physiopathology , Glucose/metabolism , Insulin Resistance/physiology , Adolescent , Blood Glucose/analysis , Child , Female , Humans , MaleABSTRACT
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