Epidemiología de la diabetes mellitus tipo 1 en menores de 15 años en España / Epidemiology of type 1 diabetes mellitus in children in Spain

INTRODUCCIÓN: Los estudios epidemiológicos sobre diabetes mellitus tipo 1 (DM1) realizados en múltiples países y regiones han contribuido al conocimiento de la epidemiología de la enfermedad en menores de 15 años. En España se han realizado estudios en casi todas las comunidades autónomas, si bien las cifras de incidencia a nivel nacional no son todavía bien conocidas. MATERIAL Y MÉTODOS: Revisión bibliográfica de las publicaciones y comunicaciones sobre epidemiología de la DM1 en menores de 15 años en España. Se han seleccionado las referencias que aportasen datos de pacientes menores de 15 años. RESULTADOS: Se han encontrado estudios en casi todas las comunidades autónomas. La metodología de los estudios realizados es heterogénea, encontrando diferencias en cuanto al ámbito de realización, duración, periodo estudiado, límite superior de edad y método de recogida de datos. Las tasas de incidencia comunicadas varían desde los 11,5 casos/100.000 habitantes-año en Asturias hasta los 27,6 de Castilla-La Mancha. En ocasiones se especifica el porcentaje de casos que presentan cetoacidosis diabética en el momento del diagnóstico, habitualmente en el rango del 25-40%. CONCLUSIONES: En España se han realizado múltiples estudios epidemiológicos de DM1 en menores de 15 años, con una metodología heterogénea. La incidencia media de DM1 en menores de 15 años en España estimada en base a los estudios revisados sería de 17,69 casos/100.000 habitantes-año. Creemos conveniente mantener los registros de DM1 en funcionamiento y crearlos en aquellas comunidades autónomas donde no existen, así como unificar en lo posible la metodología utilizada de cara a obtener datos precisos sobre la epidemiología de la DM1 en España y conocer la evolución de la incidencia de la enfermedad en los próximos años

INTRODUCTION: Epidemiological studies in many regions and countries have contributed to determining the epidemiology of type 1 diabetes (T1DM) in children less than 15 years old. Studies in many regions of Spain have been published, but the national incidence is not really known. MATERIAL AND METHODS: A review was made of the publications on the epidemiology of T1DM in Spain, selecting the references on patients less than 15 years old. RESULTS: Many epidemiological studies on T1DM in almost all regions in Spain have been published. The methodology of these studies is heterogeneous, with variations in geographical definition, duration, period of study, limit of age, and data collection. The incidence rates are variable, from 11.5 cases per 100,000/year in Asturias to 27.6 in Castilla-La Mancha. Some studies report the percentage of diabetic ketoacidosis at the time of diagnosis, which is usually in the range of 25-40%. CONCLUSIONS: Although there have been various epidemiological studies on T1DM in almost all regions in Spain, the methodology is heterogeneous. The mean incidence of T1DM in children less than 15 years old in Spain, stimated from the selected studies is 17,69 cases per 100,000/year. T1DM registers need to be created and updated, using standardized methodology, to get more reliable data of the epidemiology of T1DM in Spain in the near future

[Epidemiology of type 1 diabetes mellitus in children in Spain]. / Epidemiología de la diabetes mellitus tipo 1 en menores de 15 años en España.

INTRODUCTION: Epidemiological studies in many regions and countries have contributed to determining the epidemiology of type 1 diabetes (T1DM) in children less than 15 years old. Studies in many regions of Spain have been published, but the national incidence is not really known. MATERIAL AND METHODS: A review was made of the publications on the epidemiology of T1DM in Spain, selecting the references on patients less than 15 years old. RESULTS: Many epidemiological studies on T1DM in almost all regions in Spain have been published. The methodology of these studies is heterogeneous, with variations in geographical definition, duration, period of study, limit of age, and data collection. The incidence rates are variable, from 11.5 cases per 100,000/year in Asturias to 27.6 in Castilla-La Mancha. Some studies report the percentage of diabetic ketoacidosis at the time of diagnosis, which is usually in the range of 25-40%. CONCLUSIONS: Although there have been various epidemiological studies on T1DM in almost all regions in Spain, the methodology is heterogeneous. The mean incidence of T1DM in children less than 15 years old in Spain, stimated from the selected studies is 17,69 cases per 100,000/year. T1DM registers need to be created and updated, using standardized methodology, to get more reliable data of the epidemiology of T1DM in Spain in the near future.

Asistencia al niño y adolescente con diabetes. Unidades de referencia en diabetes pediátrica / Treatment of the child and adolescent with type i diabetes: special paediatric diabetes units

El tratamiento intensivo de la diabetes mellitus tipo 1 (DM1) permite retrasar y enlentecer la progresión de las complicaciones crónicas (DCCT 1993). Este tipo de tratamiento en niños y adolescentes con DM1 tiene una complejidad diferente de la de otras etapas de la vida y por ello se necesitan Unidades de Asistencia Especializada en diabetes pediátrica. Se valoran los diferentes documentos y declaraciones sobre los derechos de los pacientes con DM1 y se enfatiza la necesidad de una adecuada asistencia sanitaria. En la última década, se han desarrollado en Europa varios proyectos para establecer una evaluación comparativa del tratamiento de la DM en edad pediátrica con el objetivo de establecer centros hospitalarios con una asistencia muy cualificada en su control. El Grupo de trabajo de Diabetes de la Sociedad Española de Endocrinología Pediátrica ha elaborado este documento con el objetivo de obtener un Consenso Nacional para la asistencia al niño y adolescente con DM1 en «Unidades de Referencia en diabetes pediátrica» y, a su vez, poder asesorar a las administraciones para establecer una Red Nacional dirigida a la asistencia del niño y adolescente con DM y organizar las Unidades de Atención Integral de la diabetes pediátrica en hospitales con nivel de referencia por su calidad asistencial (AU)

Intensive treatment of type 1 diabetes mellitus (DM1) delays and slows down the progression of chronic diabetes complications (DCCT 1993). This type of treatment in children and adolescents with DM1 has a different complexity to other stages of life and therefore, needs specialized care units. Various documents and declarations of diabetic patient's rights are evaluated, and the need for an adequate health care is emphasized. In the last decade, several projects have been developed in Europe to create a benchmark treatment of pediatric diabetes, with the aim of establishing hospitals with highly qualified healthcare to control it. The Diabetes Working Group of the Spanish Society for Pediatric Endocrinology (SEEP) has prepared this document in order to obtain a national consensus for the care of children and adolescents with type 1 diabetes in specialist Pediatric Diabetes Units, and at the same time advise Health Care Administrators to establish a national healthcare network for children and adolescents with diabetes mellitus, and organize comprehensive pediatric diabetes care units in hospitals with a reference level in quality of care (AU)

[Treatment of the child and adolescent with type 1 diabetes: special paediatric diabetes units]. / Asistencia al niño y adolescente con diabetes. Unidades de referencia en diabetes pediátrica.

Intensive treatment of type 1 diabetes mellitus (DM1) delays and slows down the progression of chronic diabetes complications (DCCT 1993). This type of treatment in children and adolescents with DM1 has a different complexity to other stages of life and therefore, needs specialized care units. Various documents and declarations of diabetic patient's rights are evaluated, and the need for an adequate health care is emphasized. In the last decade, several projects have been developed in Europe to create a benchmark treatment of pediatric diabetes, with the aim of establishing hospitals with highly qualified healthcare to control it. The Diabetes Working Group of the Spanish Society for Pediatric Endocrinology (SEEP) has prepared this document in order to obtain a national consensus for the care of children and adolescents with type 1 diabetes in specialist Pediatric Diabetes Units, and at the same time advise Health Care Administrators to establish a national healthcare network for children and adolescents with diabetes mellitus, and organize comprehensive pediatric diabetes care units in hospitals with a reference level in quality of care.

Documento consenso del Grupo de Diabetes de la SEEP: Programa de formación para la implantación del tratamiento con infusión subcutánea continua de insulina (ISCI) en pacientes pediátricos con diabetes tipo 1 / Consensus document of the Diabetes Group of the Spanish Society of Pediatric Endocrinology (SEEP): A training program to carry out treatment with continuous subcutaneous insulin infusion (CSII) in pediatric patients with type 1 diabetes

Los avances tecnológicos en los últimos años en el campo de la diabetes han permitido la aplicación de nuevas terapias para nuestros pacientes con el objetivo fundamental de mejorar su control metabólico, la calidad de vida y evitar las hipoglucemias. Esto obliga a establecer protocolos de consenso en el empleo de estas nuevas tecnologías para ser utilizadas por los distintos profesionales implicados en esta enfermedad. Este programa de formación incluye los conocimientos básicos y avanzados, para la utilización de la ISCI (AU)

Recently new technologies for the management of diabetes allow new therapeutic strategies for diabetes patients with the object of improve metabolic control, queality of life and avoid hypoglycaemias. Because physicians must be familiar with new diabetic are devices, new protocols must be establish. This article reports on the Spanish Position Statement for the Diabetes Pediatric Group for the Spanish Pediatric Endocrinology Society (SEEP) on educational program for the treatment of children and adolescent with type 1 diabetes with continuous subcutaneous insulin infusion (AU)

Ketoacidosis at onset of type 1 diabetes mellitus in pediatric age in Spain and review of the literature.

UNLABELLED: DKA at diagnosis of T1DM is a life-threatening situation that represents the main cause of morbidity and mortality in pediatric patients with T1DM. OBJECTIVE: To determine whether the occurrence and severity of DKA at diagnosis of T1DM has suffered any changes in recent years in the Spanish paediatric population. PATIENTS AND METHODS: Data from 1169 patients with T1DM under 15 years of age was retrospectively studied (2004 -2008) for the presence and severity of DKA at the onset of T1DM, and compared to previous available studies in Spain. This study is multicentric, nationwide with eleven major Paediatric Diabetes Units involved. RESULTS: Complete data were available from 1151 patients (98%). Frequency of DKA was 39.5%, which is not significantly different from previous Spanish studies. 33.8%, children of 0-4.9 years of age, 40.8% aged 5-10.9 and 25.2% aged 11-14.9 years. Mean age of patients with DKA was significantly lower than the one of patients without DKA (7.44 +/- 4.10 versus 8.47 +/- 3.63 years). Mild DKA was occurring more frequently than moderate and severe forms (47.8%, versus 34.4% versus 17.8%, p<0.0001). Incidence of severe DKA was significantly higher in children under 4.9 years of age, especially in those younger than 2 years (p<0.001). Severe DKA led to complications in three children (cerebral oedema [n=1]), cerebral infarction (n=1) and femoral vein thrombosis (n=1). CONCLUSION: Frequency of DKA at diagnosis of T1DM in Spain is still high although most cases were mild. Children under 2 years of age seem to be at increased risk for severe DKA.

Hiperinsulinimso neonatal por nueva mutación del gen ABBCC8 con evolución hacia diabetes hipoinsulínica / Neonatal hyperinsulinism due to new mutation of ABCCS gene with evolution towards hypoinsulinemic diabetes

Recientemente se han descrito mutaciones activadoras de los genes ABCC8 y KCNJ11 causantes de hiperinsulinismo hipoglucémico seguido del desarrollo de una diabetes hipoinsulínica posterior. Se presenta un caso de hiperinsulinismo congénito neonatal por nueva mutación el gen ABCC8 con evolución hacia una diabetes hipoinsulínica al cabo de cuatro caos de evolución. Se trata de una recién nacida macrosómica afecta de hiperinsulinismo con una expresión clínica importante ya que inicialmente presentaba hipoglucemias e hiperinsulinemias severas con buena respuesta al diazóxido. Posteriormente fue estabilizándose la situación metabólica, llegando a retirarse la medicación sin apenas recaídas importantes. A continuación y coincidiendo con procesos infecciosos intercurrentes, se apreciaba tendencia a descender las glucemias sin llegar a presentar hipoglucemias e hiperinsulinemias francas y sin cetosis, que no respondieron a la medicación. Finalmente, a los cinco años de edad aparece una intolerancia a la glucosa con hiperglucemias postprandiales y una sobrecarga oral de glucosa patológica indicativa de una evolución a diabetes mellitus hipoinsulínica. Se detectó la mutación Thr1515Ala en heterocigosis en el exón 37 del gen ABCC8 responsable de la codificación de la proteína SUR1 que no hemos encontrado descrita en la literatura revisada. Se discute el posible mecanismo por la cual se pasa de un estado de hiperinsulinismo hipoglucémico a hipoinsulinismo o diabetes hipoinsulínica (AU)

The have been described recently activating mutations in ABCC8 and KCNJ11 genes that are related wyth hypoglycemic hyperinsulinism that subsequently change to hypoinsulinemic diabetes. We present a case of congenital neonatal hyperinsulinism caused by a new mutation in ABCC8 gene that changed to a hypoinsulinemic diabetes after 4 years of evolution. A macrosomic female newborn with severe hypoglycaemia and hyperinsulinemia with good response to diazoxide was followed in our Unit. Subsequently the patient remains compensated and the medication could be discontinued without symptoms of relapses of hypoglycaemia. Along the period of evolution and when the patient suffered intercurrent infectious episodes she showed tendency to present with low glycemia but without of documented hypoglycaemia, hyperinsulinemia or ketosis that did not respond to medication. When she was 5 years old the patient developed glucose intolerance with postprandial hyperglycaemia nad with an oral glucose tolerance curve compatible with hypoinsulinemic diabetes mellitus. Genetic analysis showed Thr1515Ala mutation in heterozygosis in exon 37 of the ABCC8 gene responsible of coding SUR1 protein that has not been previously described. The possible mechanisms involved in the modification of the clinical phenotype from an state of hyperinsulinemic hypoglicaemia to a state of hypoinsulinemia and diabetes are discussed (AU)

Estado actual y recomendaciones sobre la utilización de los sistemas de monitorización continua de glucosa en niños y adolescentes con diabetes mellitus tipo 1 / Current status and recommendations on the use of continuous blood glucose monitoring systems in children and adolescents with type 1 diabetes mellitus

Los métodos de medición de la glucemia han presentado un gran avance en la última década con la aparición de los sistemas de monitorización continua de la glucosa (SMCG) que miden los niveles de glucosa en el líquido intersticial y ofrecen información sobre patrones y tendencias de los niveles de la glucemia pero no sustituyen el autocontrol de la glucemia capilar. La mejoría del control de la diabetes utilizando los SMCG depende de la motivación y formación recibida por el paciente y familia, así como de la continuidad en su uso. Debido al gran desarrollo y la amplia utilización en la práctica clínica de estos sistemas, el grupo de diabetes de la Sociedad Española de Endocrinología Pediátrica ha elaborado un documento de consenso para su indicación y uso en la edad pediátrica. Existe un número limitado de ensayos clínicos en población pediátrica sobre el uso de esta tecnología. Se necesitan más datos para poder valorar su impacto sobre el control metabólico (AU)

Glucose monitoring methods have made great advances in the last decade with the appearance of the continuous glucose monitoring systems (CGMS) that measure the glucose levels in the interstitial liquid, providing information about glucose patterns and trends, but do not replace the self-monitoring of capillary glucose. Improvement in diabetes control using the CGMS depends on the motivation and training received by the patient and family and on the continuity in its use. Due to the development and widespread use of these systems in clinical practice, the diabetes group of the Sociedad Española de Endocrinología Pediátrica has drafted a document of consensus for their indication and use in children and adolescents. Only a limited number of trials have been performed in children and adolescent populations. More data are needed on the use of this technology in order to define the impact on metabolic control (AU)

[Current status and recommendations on the use of continuous blood glucose monitoring systems in children and adolescents with type 1 diabetes mellitus]. / Estado actual y recomendaciones sobre la utilización de los sistemas de monitorización continua de glucosa en niños y adolescentes con diabetes mellitus tipo 1.

Glucose monitoring methods have made great advances in the last decade with the appearance of the continuous glucose monitoring systems (CGMS) that measure the glucose levels in the interstitial liquid, providing information about glucose patterns and trends, but do not replace the self-monitoring of capillary glucose. Improvement in diabetes control using the CGMS depends on the motivation and training received by the patient and family and on the continuity in its use. Due to the development and widespread use of these systems in clinical practice, the diabetes group of the Sociedad Española de Endocrinología Pediátrica has drafted a document of consensus for their indication and use in children and adolescents. Only a limited number of trials have been performed in children and adolescent populations. More data are needed on the use of this technology in order to define the impact on metabolic control.

Documento de consenso sobre tratamiento con infusión subcutánea continua de insulina de la diabetes tipo 1 en la edad pediátrica / Consensus document on continuous subcutaneous insulin infusion (CSII) treatment in paediatrics with type I diabetes

Este artículo expone el documento consenso al que ha llegado el Grupo de Trabajo de Diabetes Pediátrica de la Sociedad Española de Endocrinología Pediátrica de la Asociación Española de Pediatría sobre el tratamiento con infusión subcutánea continua de insulina en diabetes tipo 1 en la edad pediátrica. Se recogen los aspectos prácticos sobre requisitos, indicaciones, contraindicaciones, candidatos, ventajas e inconvenientes de dicho tipo de tratamiento. Las conclusiones se basan en la revisión de los consensos internacionales basados en la evidencia y en el acuerdo de los participantes (AU)

This article reports on the Spanish Position Statement for the Diabetes Pediátric Group for the Spanish Pediatric Endocrinology Society (SEEP) on continuous subcutaneous insulin infusion in children and adolescents with type 1 diabetes. The practical issues about their indications, appropriate candidates, feasibility, and limits are outlined. The conclusions are based on the comprehensive review and balanced assessment of the evidence base on the international consensus and consensual answers to these questions for the participants (AU)

[Consensus document on continuous subcutaneous insulin infusion (CSII) treatment in paediatrics with type I diabetes]. / Documento de consenso sobre tratamiento con infusión subcutánea continua de insulina de la diabetes tipo 1 en la edad pediátrica.

This article reports on the Spanish Position Statement for the Diabetes Pediátric Group for the Spanish Pediatric Endocrinology Society (SEEP) on continuous subcutaneous insulin infusion in children and adolescents with type 1 diabetes. The practical issues about their indications, appropriate candidates, feasibility, and limits are outlined. The conclusions are based on the comprehensive review and balanced assessment of the evidence base on the international consensus and consensual answers to these questions for the participants.

[Total homocysteine levels in children with diabetes type 1. Conditional factors]. / Valores plasmáticos de homocisteína total en niños con diabetes mellitus tipo 1. Factores condicionantes.

OBJECTIVES: To measure the plasma levels of total homocysteine (tHcy) in children with type I diabetes mellitus and their relationship with the control of the disease. MATERIAL AND METHODS: We studied a total of 46 patients with ages between 4 and 19 years. The analyzed variables were: sex, age, puberty stage by Tanner, BMI, years of evolution of the illness, self-monitoring, associated diseases, tHcy, folic acid, vitamin B12, glycosylated haemoglobin (HbA1c), lipid profile and renal function. RESULTS: The mean tHcy was of 5.48 +/- 1,64 microm/l, similar to that in our control population. There was a positive correlation with tHcy when analyzing the puberty stage by the Tanner scale. The years of evolution of diabetes varied between 0.4 and 15, with a mean of 5.77 +/- 3.69, with no correlation with tHcy. The glycosylated haemoglobin mean was 7.35 %, with no correlation with tHcy. The levels of folic acid and vitamin B12 were similar to the control population. The lipid profile of our patients was normal, with no association with tHcy levels. There was no correlation between GFR and tHcy. CONCLUSIONS: A clinically correct control of children with diabetes mellitus type 1, appears to ensure a normal total homocysteinemia, with no significant differences with the healthy individuals of the same age and social environment.

Valores plasmáticos de homocisteína total en niños con diabetes mellitus tipo 1. Factores condicionantes / Total homocysteine levels in children with diabetes type 1. Conditional factors

Objetivos: Conocer las concentraciones plasmáticas de homocisteína total en niños afectados de diabetes mellitus tipo 1 y su relación con el control de la enfermedad. Material y métodos: Estudiamos un total de 46 pacientes con edades comprendidas entre los 4 y los 19 años. Las variables analizadas fueron: sexo, edad, estadio puberal de Tanner, índice de masa corporal, años de evolución de la enfermedad, autocontrol, patologías asociadas, homocisteína total (tHcy), ácido fólico, vitamina B12, hemoglobina glucosilada (HbA1c), perfil lipídico y función renal. Resultados: La homocisteína (Hcy) media fue de 5,48 ± 1,64 μm/l, similar a la de nuestra población control. Analizando el estadio puberal mediante la escala Tanner encontramos una correlación positiva con la Hcy. Los años de evolución de la diabetes oscilaban entre 0,4 y 15, con una media de 5,77 ± 3,69, sin correlación con la Hcy. La HbA1c media era del 7,35 %, sin correlación con la Hcy. Las concentraciones de ácido fólico y vitamina B12 fueron similares a la población control. El lipidograma de nuestros pacientes fue normal, sin relación con las cifras de Hcy. No hallamos correlación entre el índice de filtrado glomerular (GFR) y la Hcy. Conclusiones: Un correcto control clínico de los niños afectados de diabetes mellitus tipo 1 parece garantizar una homocisteinemia total normal, sin diferencias significativas con los individuos sanos de su misma edad y ambiente social (AU)

Objectives: To measure the plasma levels of total homocysteine (tHcy) in children with type I diabetes mellitus and their relationship with the control of the disease. Material and methods: We studied a total of 46 patients with ages between 4 and 19 years. The analyzed variables were: sex, age, puberty stage by Tanner, BMI, years of evolution of the illness, self-momitoring, associated diseases, tHcy, folic acid, vitamin B12, glycosylated haemoglobin (HbA1c), lipid profile and renal function. Results: The mean tHcy was of 5.48 ± 1,64 μm/l, similar to that in our control population. There was a positive correlation with tHcy when analyzing the puberty stage by the Tanner scale. The years of evolution of diabetes varied between 0.4 and 15, with a mean of 5.77 ± 3.69, with no correlation with tHcy. The glycosylated haemoglobin mean was 7.35 %, with no correlation with tHcy. The levels of folic acid and vitamin B12 were similar to the control population. The lipid profile of our patients was normal, with no association with tHcy levels. There was no correlation between GFR and tHcy. Conclusions: A clinically correct control of children with diabetes mellitus type 1, appears to ensure a normal total homocysteinemia, with no significant differences with the healthy individuals of the same age and social environment (AU)

[Wolfram syndrome. Clinical and genetic study in two families]. / Síndrome de Wolfram. Estudio clínico y genético en dos familias.

Wolfram syndrome (WS), also known as DIDMOAD (due to its association with diabetes insipidus, diabetes mellitus, optic atrophy and deafness), is an infrequent cause of diabetes mellitus. This syndrome is included among the genetic disorders associated with diabetes in the American Diabetes Association's classification. WS is an autosomal recessive neurodegenerative disease characterized by various clinical manifestations such as diabetes mellitus, optic atrophy, diabetes insipidus, deafness, neurological symptoms, renal tract abnormalities, psychiatric disorders and gonadal disorders. The most frequent of these disorders is early onset diabetes mellitus, with a low prevalence of ketoacidosis, and optic atrophy, which is considered a key diagnostic criterion in this syndrome. Diabetes insipidus usually develops later. This syndrome manifests in childhood, hampering diagnosis and treatment. Morbidity and mortality are high and quality of life is impaired due to neurological and urological complications. This article describes the clinical characteristics and outcome in three patients with WS. All three patients had antecedents of consanguinity. Genetic study was performed in all patients. One was homozygotic for the WFS1 gene that encodes the WFS1 G736A mutation in exon 8 and the remaining two patients, who were siblings, were homozygotic for the 425ins16 mutation in exon 4.

Síndrome de Wolfram. Estudio clínico y genético en dos familias / Wolfram syndrome. Clinical and genetic study in two families

El síndrome de Wolfram, también conocido con la denominación DIDMOAD (por asociar diabetes insípida, diabetes mellitus [DM], atrofia óptica y sordera), es una causa muy poco frecuente de diabetes mellitus. Se encuentra dentro de los síndromes genéticos que pueden asociarse con diabetes en la clasificación de la American Diabetes Association (ADA). Es un cuadro neurodegenerativo con transmisión autosómica recesiva. Cursa con diversas manifestaciones clínicas, como la DM, la atrofia óptica, la diabetes insípida (DI), la sordera, la dilatación de las vías urinarias, alteraciones en el sistema nervioso central, alteraciones psiquiátricas y alteraciones gonadales; entre las más frecuentes destaca la DM, que es de aparición precoz y con poca prevalencia de cetoacidosis, y la atrofia óptica, la cual se considera el criterio diagnóstico fundamental en este síndrome. La DI suele aparecer más tarde. Este síndrome se presenta en la infancia, lo que da lugar a una mayor dificultad diagnóstica y terapéutica, con una elevada morbimortalidad y deterioro de la calidad de vida por las afectaciones neurológicas y urológicas. En el presente artículo describimos las características clínicas de 3 pacientes con síndrome de Wolfram y su evolución. En todos ellos existían antecedentes de consanguinidad. Se practicó análisis genético en los tres casos, uno presentó en homocigosis la mutación del gen WFS1 G736A en el exón 8, y los otros dos, que eran hermanos, homocigosis con la mutación del gen 425ins16 en el exón 4

Wolfram syndrome (WS), also known as DIDMOAD (due to its association with diabetes insipidus, diabetes mellitus, optic atrophy and deafness), is an infrequent cause of diabetes mellitus. This syndrome is included among the genetic disorders associated with diabetes in the American Diabetes Association's classification. WS is an autosomal recessive neurodegenerative disease characterized by various clinical manifestations such as diabetes mellitus, optic atrophy, diabetes insipidus, deafness, neurological symptoms, renal tract abnormalities, psychiatric disorders and gonadal disorders. The most frequent of these disorders is early onset diabetes mellitus, with a low prevalence of ketoacidosis, and optic atrophy, which is considered a key diagnostic criterion in this syndrome. Diabetes insipidus usually develops later. This syndrome manifests in childhood, hampering diagnosis and treatment. Morbidity and mortality are high and quality of life is impaired due to neurological and urological complications. This article describes the clinical characteristics and outcome in three patients with WS. All three patients had antecedents of consanguinity. Genetic study was performed in all patients. One was homozygotic for the WFS1 gene that encodes the WFS1 G736A mutation in exon 8 and the remaining two patients, who were siblings, were homozygotic for the 425ins16 mutation in exon 4

Necesidad de creación de unidades de adolescencia / No disponible

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