Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

AIM: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) international web-based registry. RESULTS: This review comprises 238 patients (cobalamin C defect n = 161; methylenetetrahydrofolate reductase deficiency n = 50; cobalamin G defect n = 11; cobalamin E defect n = 10; cobalamin D defect n = 5; and cobalamin J defect n = 1) from 47 centres for whom the E-HOD registry includes, as a minimum, data on medical history and enrolment visit. The duration of observation was 127 patient years. In 181 clinically diagnosed patients, the median age at presentation was 30 days (range 1 day to 42 years) and the median age at diagnosis was 3.7 months (range 3 days to 56 years). Seventy-five percent of pre-clinically diagnosed patients with cobalamin C disease became symptomatic within the first 15 days of life. Total homocysteine (tHcy), amino acids and urinary methylmalonic acid (MMA) were the most frequently assessed disease markers; confirmatory diagnostics were mainly molecular genetic studies. Remethylation disorders are multisystem diseases dominated by neurological and eye disease and failure to thrive. In this cohort, mortality, thromboembolic, psychiatric and renal disease were rarer than reported elsewhere. Early treatment correlates with lower overall morbidity but is less effective in preventing eye disease and cognitive impairment. The wide variation in treatment hampers the evaluation of particular therapeutic modalities. CONCLUSION: Treatment improves the clinical course of remethylation disorders and reduces morbidity, especially if started early, but neurocognitive and eye symptoms are less responsive. Current treatment is highly variable. This study has the inevitable limitations of a retrospective, registry-based design.

Enfermedad de Gaucher: tratamiento enzimático sustitutivo iniciado en la edad pediátrica. Experiencia de 20 años / Gaucher disease: enzyme replacement treatment initiated at pediatric age; 20-year experience

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Clinical response to long term enzyme replacement treatment in children, adolescent and adult patients with Hunter syndrome / Respuesta clinica al tratamiento prolongado con terapia de reemplazo enzimático en niños, adolescentes y adultos con Síndrome de Hunter

Background and objective: Since enzyme replacement treatment (ERT) with idursulfase is available for Hunter syndrome (HS; mucopolysaccharidosis type II), for the first time, disease progression can be limited and organ damage reduced or prevented. Patients and methods: We described retrospectively the clinical evolution of eight HS males, treated with ERT and followed in routine clinical practice in Hospital Infantil La Fe (Valencia, Spain). Results: We studied three children, three adolescents and two adults. Time from diagnosis to ERT ranged from 13.7 to 0.2 years, and duration of ERT ranged from 24 to 77.1 months. From the start of ERT, weight and height increased in children and adolescents and remained stable in adults. Glycosaminoglycans (GAG) decreased in all patients; in patient 5 (aged 23 years), we observed the highest reduction (86%) with recovery of carpal tunnel syndrome, splenomegaly and a decrease in nocturnal oxygen dependence. Conclusion: Our results show that ERT improve respiratory impairment and organomegalies and decrease GAGs levels in all patients including children, adolescent and adults. While cardiac manifestations and facial features stabilized, responses in other parameters were heterogeneous (AU)

Introducción y objetivo: Desde que la Terapia de reemplazo enzimático (TRE) con Idursulfasa está disponible para el Síndrome de Hunter (SH; mucopolisacaridosis tipo II) la progresión de la enfermedad puede limitarse y posiblemente reducir y prevenir el daño orgánico. Pacientes y métodos: Describimos retrospectivamente la evolución de 8 pacientes con SH, tratados con TRE y revisados según práctica clínica habitual en el Hospital Infantil La Fe (Valencia, España). Resultados: Estudiamos 3 niños, 3 adolescentes y 2 adultos El tiempo desde el diagnóstico hasta inicio de TRE fue de 0,2 a 13,7 añosy la duración de la TRE de 24 a 77,1 meses. Tras iniciar la TRE, el peso y la talla de los niños y adolescentes se incrementaron permaneciendo estable en los adultos. Los glucosaminoglicanos (GAG) disminuyeron en todos los pacientes; la mayor reducción (86%) se observó en un adulto que mejoró el túnel carpiano, disminuyó la esplenomegalia y la dependencia nocturna de oxígeno. Conclusión: Nuestros resultados muestran que la TRE mejora la función respiratoria, las organomegalias y reducen los niveles e GAGs urinarios en todos los pacientes incluyendo niños, adolescentes y adultos. Las manifestaciones cardiacas y facials permanecieron estables. Los resultados en otros parámetros fueron heterogéneos (AU)

Clinical response to long term enzyme replacement treatment in children, adolescent and adult patients with Hunter syndrome.

BACKGROUND AND OBJECTIVE: Since enzyme replacement treatment (ERT) with idursulfase is available for Hunter syndrome (HS; mucopolysaccharidosis type II), for the first time, disease progression can be limited and organ damage reduced or prevented. PATIENTS AND METHODS: We described retrospectively the clinical evolution of eight HS males, treated with ERT and followed in routine clinical practice in Hospital Infantil La Fe (Valencia, Spain). RESULTS: We studied three children, three adolescents and two adults. Time from diagnosis to ERT ranged from 13.7 to 0.2 years, and duration of ERT ranged from 24 to 77.1 months. From the start of ERT, weight and height increased in children and adolescents and remained stable in adults. Glycosaminoglycans (GAG) decreased in all patients; in patient 5 (aged 23 years), we observed the highest reduction (86%) with recovery of carpal tunnel syndrome, splenomegaly and a decrease in nocturnal oxygen dependence. CONCLUSION: Our results show that ERT improve respiratory impairment and organomegalies and decrease GAGs levels in all patients including children, adolescent and adults. While cardiac manifestations and facial features stabilized, responses in other parameters were heterogeneous.

Grasas de la dieta y salud cardiovascular / Dietary fats and cardiovascular health

La importancia de la grasa en la dieta, y su papel en la prevención cardiovascular, es uno de los tópicos nutricionales mejor estudiados y, a pesar de ello, está en continua revisión. Ahora ya conocemos, en especial gracias a los estudios relacionados con la dieta mediterránea, que es más importante la calidad de la grasa, que la cantidad de su ingesta. En ese sentido, la grasa saturada y la grasa trans están implicadas en el riesgo aterogénico, por lo que se recomienda que para el diseño de una dieta sana dichos nutrientes se deben sustituir por hidratos de carbono complejos o por grasas insaturadas, manteniendo el consumo de grasa saturada en < 10% y el de trans en < 1% de la ingesta calórica. Estudios poblacionales recientes, en especial el estudio de Kuopio y los trabajos realizados con el modelo de dieta mediterránea, están afianzando cada vez más la importancia de las grasas monoinsaturadas y poliinsaturadas, como nutrientes claves para la prevención de las enfermedades crónicas de las sociedades modernas(AU)

Por otra parte, un tipo especial de ácidos grasos poliinsaturados, los de la serie omega 3 (n-3), están gradualmente convirtiéndose en nutrientes claves de una dieta sana, especialmente en niños. Por ello parece razonable, que cuatro sociedades, fuertemente implicadas en difundir los beneficios de la dieta como herramienta para prevenir las enfermedades cardiovasculares, desarrollen un consenso para difundir los nuevos conocimientos sobre la importancia de conseguir un aporte equilibrado y adecuado de grasa, en la dieta de las poblaciones industrializadas. Esto justifica este documento realizado por un grupo de expertos de la Sociedad Española de Arteriosclerosis, la Sociedad Española de Medicina Familiar y Comunitaria, la Asociación Española de Pediatría, la Sociedad Española de Gastroenterología, Hepatología y Nutrición Pediátrica y la Sociedad Española de Dietética y Ciencias de la Alimentación, en un esfuerzo porque resulte un trabajo multidisciplinar, orientado tanto a los adultos como a los niños, en distintos tramos de edad(AU)

Although dietary fat and its role in cardiovascular prevention has been one of the most extensively studied nutritional topics, it continues to be an ever-expanding research area. Particularly thanks to studies on Mediterranean diet, we now know that fat quality is more relevant than the amount of fat we eat in the diet. Thus, saturated and trans fats have been found to increase the risk of atherogenic disease. This is why it is recommended to substitute complex carbohydrates or unsaturated fat for unsaturated and trans fats with the aim of reducing saturated and trans fat intake to <10% and <1%, respectively, of the total calorie intake. Recent population studies, particularly that conducted in Kuopio, Finland, and those on Mediterranean diet, stress the important role of monounsaturated and polyunsaturated fats as key nutrients in preventing cardiovascular disease in modern societies. Furthermore, a special type of polyunsaturated fatty acids, i.e. those of the omega-3 (n-3) series, is increasingly becoming essential nutrients for a healthy diet, especially in the case of children. Therefore, there is a rationale for four the Scientific Societies that are strongly committed to disseminate the benefits of a healthy diet in preventing cardiovascular disease, and to prepare a joint statement with the purpose of spreading improved knowledge on the importance of changing to a healthy diet with a well-balanced fat intake for industrialized populations. Accordingly, a multidisciplinary panel of experts from the following institutions has developed the present joint statement targeted at both adults and children of different ages: Spanish Society of Arteriosclerosis, Spanish Society of Family and Community Medicine, Spanish Association of Paediatrics, Spanish Society of Gastroenterology, Hepatology and Paediatric Nutrition and Dietetics, and Spanish Society for Food Sciences(AU)

El cólico del lactante / Infant colics

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