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Enfermedades Minoritarias

Grupo Minoritarias


Recomendaciones para el abordaje multidisciplinar del complejo esclerosis tuberosa

Autores: Alfons Macaya, Roser Torrab, en representación del Grupo Español Multidisciplinar de Expertos en Complejo Esclerosis Tuberosa (GEM-CET).

Med Clin 2016;147:211-6

Actualización de los criterios diagnósticos del complejo esclerosis tuberosa

BACKGROUND: Tuberous sclerosis complex is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the lifetime of an affected individual. Accurate diagnosis is fundamental to implementation of appropriate medical surveillance and treatment. Although significant advances have been made in the past 15 years in the understanding and treatment of tuberous sclerosis complex, current clinical diagnostic criteria have not been critically evaluated or updated since the last clinical consensus conference in 1998.

Gender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey

 Both male/female patients with Fabry disease (FD) may receive enzyme replacement therapy (ERT). Previously published analyses of the Fabry Outcome Survey (FOS; Shire-sponsored) database suggested gender differences in timing of ERT initiation. We assessed alignment of criteria for ERT initiation in the Spanish adult population included in FOS with recommendations of a Spanish national consensus. This retrospective analysis examined baseline clinical data of 88 adults (49 females) enrolled in the FOS database up to August 2014.

Twelve years of experience with miglustat in the treatment of type I Gaucher disease: the Spanish ZAGAL project

We report data from a prospective, observational study (ZAGAL) evaluating miglustat 100mg three times daily orally. in treatment-naïve patients and patients with type 1 Gaucher Disease (GD1) switched from previous enzyme replacement therapy (ERT). Clinical evolution, changes in organ size, blood counts, disease biomarkers, bone marrow infiltration (S-MRI), bone mineral density by broadband ultrasound densitometry (BMD), safety and tolerability annual reports were analysed. Between May 2004 and April 2016, 63 patients received miglustat therapy; 20 (32%) untreated and 43 (68%) switched.

Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso

Background and objective: The transition process from paediatric to adult care is a subject of great interest in recent years, especially in chronic diseases with childhood onset, such as inborn errors of metabolism (IEM). Advances in diagnosis and treatment of these diseases have improved their prognosis, with a high number of patients with IEM who currently reach adult age and need to be attended to by non-paediatric professionals.

The role of 18FDG, 18FDOPA PET/CT and 99mTc bone scintigraphy imaging in Erdheim–Chester disease


F.J. García-Gómeza, I. Acevedo-Bañeza, R. Martínez-Castilloa, J.L. Tirado-Hospitala, J.I. Cuenca-Cuencaa, V.M. Pachón-Garrudoa, R.M. Álvarez-Péreza, R. García-Jiméneza, E. Rivas-Infanteb, J.S. García-Morilloc, I. Borrego-Doradoa