ABSTRACT
La Unidad Pediátrica de Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias (EM-EMH) presta atención a pacientes afectos de errores congénitos del metabolismo (ECM). Asimismo, realiza consejo genético, diagnóstico prenatal y el diagnóstico en sus familiares. Nuestro Hospital dispone de todas las especialidades médicas, pediátricas y de adultos, así como infraestructuras necesarias para proporcionar una atención de calidad. Por el trabajo realizado hemos recibido algunos premios y reconocimientos, otorgados por asociaciones de pacientes (Federación Española de Enfermedades Raras -FEDER-, Asociación Española de Enfermedades Raras -ACME-IM-). Hemos sido denominados Centro Experto de Referencia para centro del diagnóstico y seguimiento clínico de los casos sospechosos de enfermedades metabólicas congénitas detectados en el programa de cribado neonatal universal que se realiza en la Comunidad de Madrid y Centro de Referencia para enfermedades metabólicas congénitas para niños y adultos (CSUR) por el Ministerio de Sanidad, Servicios Sociales e. Igualdad. Recientemente hemos sido nominados dentro de la Red Europea de Referencia de enfermedades metabólicas hereditarias (metabERN) (AU)
The Pediatric Mitochondrial and Hereditary Mctabolic Diseases Unit (MD-IMD) provides care for patients affected by Inborn Errors of Metabolism (IMD). It also provides genetic advice, prenatal diagnosis and diagnosis in their family members. Our hospital has all the medical, pediatric and adult specialities, as well as the necessary infrastructure to provide quality care. We have received some awards and acknowledgments for our work, granted by the associations of patients (Spanish Federation of Rare Diseases-FEDER-, Spanish Association of Rare Diseases -ACMEIM-). We have been named as an Expert Center of Reference for HMD detected in extended neonatal screening of the community of Madrid and a Reference Center for lnborn Err0rs of Metabolism for children and adults (CSUR -Centers, Services and Units of Reference) by the National Health Service. Actually we are working in the European Reference Network for Rare Hereditary Metabolic Disorders (metabERN) (AU)
Subject(s)
Humans , Male , Female , Child , Mitochondrial Diseases/epidemiology , Metabolic Diseases/epidemiology , Child Care/trends , Hospitals, University , Child Health Services/organization & administration , Child Health Services/standards , Hospitals, Pediatric/organization & administration , Hospitals, Pediatric/standards , Hospitals, PediatricABSTRACT
We present the nutritional and pharmacological management of a 2-year-old girl with a severe form of propionic acidaemia and a genitourinary embryonal rhabdomyosarcoma. This association has not been described before, nor the utilization of chemotherapy in patients with propionic acidaemia.The patient is a girl with neonatal onset of propionic acidaemia, homozygous for the c.2041-2924del3889 mutation in PCCA gene. At 23 months of age she was diagnosed with genitourinary embryonal rhabdomyosarcoma. Conservative surgery, brachytherapy and nine cycles of chemotherapy with iphosphamide, vincristine and actinomycin were recommended by oncologists. Due to the possibility that the child could present decompensations, we elaborated three different courses of treatment: when the patient was stable (treatment 1), intermittent bolus feeding through gastrostomy, containing 70 kcal/kg/day and 1.4 g/kg/day of total protein (0.6 g/kg/day of natural protein and 0.8 g/kg/day of amino acid-based formula) was prescribed; on the chemotherapy-days (treatment 2), diet consisted on continuous feeding, with the same energy and amino acid-based formula but half of natural protein intake; in case of decompensation (treatment 3), we increased by 10% the energy intake, and completely stopped natural protein in the diet but maintaining the amino acid-based formula. On chemotherapy- days carnitine was increased from 100 mg/kg/day to 150 mg/kg/day, and N-carbamylglutamate was added.Through the 7 months with chemotherapy the patient did not suffer decompensations, while she maintained good nutritional status.Enteral continuous feeding by gastrostomy, amino acid-based formula, and preventive use of N-carbamylglutamate during chemotherapy-days are the principal measures we propose in these situations.
