Dislipidemia en niños y adolescentes con historia familiar de enfermedad cardiovascular precoz / Dyslipidemia in children and adolescents with a family history of early cardiovascular disease

INTRODUCTION: In Chile, cardiovascular diseases (CVD) represent the first cause of mortality. The risk of CVD is greater if other factors are associated, among which the family history of CVD acquires special relevance due it represents an independent risk factor of atherogenesis. Aim: To evaluate cardiovascular risk markers: lipid profile, hsCRP and nutritional status in children and adolescents with positive family history of early cardiovascular disease. SUBJECTS AND MATERIALS: Descriptive-transversal study. 138 children and adolescents with a mean age of 13,1 +/- 5,4 years were studied. Anthropometric measurements, blood pressure, lipid profile and hsCRP were evaluated. RESULTS: Dyslipidemia was found in 55,1 percent of the studied population, that was mainly characterized by hypertryglyceridemia and decreased levels of HDL-chol (39,1 percent). In the total of dyslipidemic subjects, 10,5 percent showed 3 altered lipid parameters (total chol, tryglicerides and HDL-chol), 22,4 percent presented 2 parameters that were out the reference range (tryglicerides and HDL-chol) and the 34,2 percent had only one lipid parameter altered (low levels of HDL-chol or hypertriglyceridemia). Dyslipidemia was observed in 69,1 percent, of the overweight and obese population and it was 40,6 percent in the normal weight subjects. hsCRP concentrations were higher in dyslipidemic and overweight and obese individuals. CONCLUSIONS: Dyslipidemia was highly frequent in children and adolescents with positive family history of early CVD and even higher in those overweight and obese subjects. These findings support the screening of dyslipidemia in children and adolescents with positive family history of early CVD.

Consenso elaborado por la Sociedad Chilena de Endocrinología y Diabetes sobre resistencia a la insulina(RI) y síndrome metabólico (SM): aspectos clínicos y terapéuticos / Chilean society of endocrinology and diabetes consensus on clinical and therapeutic aspects of insulin resistance and metabolic syndrome

Background: The concept insulin resistance as the basis for a series of metabolic alterations and diseases was introduced by Gerald Reaven in 1988, when he described a cluster of alterations that named syndrome X. Aim: To review and discuss the present information about insulin resistance (IR) and metabolic syndrome (MS). Material and methods: The IR concept is defined,the affected metabolic ways, its consequences and relationship with different diseases are presented. The importance of central obesity with its metabolic, inflammatory and prothrombotic consequences playing a key role in cardiovascular risk, is discussed. The cluster of factors focused on cardiovascular disease and eventually diabetes is named MS. Several definitions of MS are analyzed and compared. A proposition is made about the definition to be used in the Chilean population. Differences between IR syndrome and MS are discussed. Diagnostic methods of IR and MS are presented, recommendations are made about their usefulness and reliability. Non pharmacological and pharmacological treatments of IR and MS are analyzed. Other related diseases, such as polycystic ovary syndrome, non alcoholic steatohepatitis and sleep apnea are discussed. Conclusions. Until further studies are made to define a local waist circumference cut-off associated with high risk, the ATPIII MS definition is preferred. A clinical approach is recommended for diagnosis. A search for all components of the MS is important. There is no evidence about the benefits of MS treatment on the prevention of cardiovascular diseases or diabetes. Evidence supports the use of lifestyle changes and some drugs, such as metformin on the prevention of diabetes in prediabetic states.

Marcadores genéticos (HLA) y perfil de auto-anticuerpos en una familia mapuche con un caso de diabetes tipo 1 / HLA genetic markers and auto-antibody profile in a Mapuche family with a case affected of type 1 diabetes

Background: Type 1 diabetes (DM1) is caused by an autoimmune process that destroys beta cells of pancreas. Not all carriers of susceptible HLA genes and positive for autoantibodies develop the disease. Environmental factors play a role in triggering the autoimmune process. Aim: To analyze an exceptional case of DM1 in a Mapuche family in the context of genetic, immunological and environmental factors. Subjects and methods: A study of a family with an affected female child was carried out in a Mapuche community in Southern Chile (VIII region). This is an unique and sporadic DM1 case with Mapuche heritage. Nutritional and viral infections data were collected by interview and clinical records. A genetic analysis by PCR was done to detect class I and II HLA genes by reverse dot blot. Results: The proband, her mother and sister had positive islet cell antibodies (ICA). Her father and brother were negative. All the family was positive for anti glutamic decarboxylase antibodies (GAD65). All subjects had HLA-DRB1 0407/0407 and HLA-DQB1 0302/0302 alleles. The index case and her father were homozygotes for the HLA-A1:A*68012/A*68012 allele. Mean breast feeding lapse was 18 months in all children. No evidences for viral infections such as rubella, mumps or measles were found in this family. Conclusions: There was an altered profile of autoantibodies in the family of the index case. All genotypes were comparable with the European population where the diabetogenic combination DR4/DQB1*0302 is the most prevalent. No environmental factors could be incriminated as triggers of the disease (Rev Méd Chile 2004; 132: 47-50).

Diabetes mellitus insulino dependiente (tipo I): actualización sobre su etiopatogenia / Type I insulin dependent diabetes mellitus: etiopathogenic update

La diabetes mellitus es una enfermedad poco frecuente en pediatría, cuyo diagnóstico debe sospecharse frente a un paciente con compromiso del estado general, poliuria y polidipsia y frente a todo paciente que ingresa en coma de causa no precisada. En los últimos años los avances en los estudios inmunológicos, genéticos y epidemiológicos han determinado que la destrucción de las células de los islotes de Langerhans, responsable de la diabetes infantil, es un proceso inmunológico regulado por una susceptibilidad genética. En este artículo se describe una actualización en los conocimientos de la etiopatogenia de la diabetes insulinodependiente o tipo I

Galactosemia / Galactosemia

Se describe el caso de un lactante galactosémico, que manifiesta su enfermedad en el primer mes de vida, caracterizándose por mal progreso ponderal, acidosis, ictericia, hepatoesplenomegalia, daño neurológico y ausencia de cataratas. El diagnóstico se confirmó mediante cromatografía de azúcares en orina, la que demostró galactosuria previa administración de galactosa en la dieta. Su tratamiento consistió en supresión de la ingesta de galactosa; con él se consiguió mejoría parcial de la función hepática, pero no del daño neurológico