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A study of the demand for health care in hereditary-metabolic diseases in a Spanish tertiary care hospital

M. Lafuente-Hidalgo, J. López-Pisón, M.C. García-Jiménez, R. Ranz-Angulo, P. Roncalés-Samanes, S. Beltrán-García, J.L. Peña-Segura [REV NEUROL 2017;65:496-502] PMID: 29178107 DOI: https://doi.org/10.33588/rn.6511.2017192

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Volumen 65 | Number 11 | Nº of views of the article 4.777 | Nº of PDF downloads 235 | Article publication date 01/12/2017

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ABSTRACT

AIM To determine the characteristics of the demand for health care in hereditary-metabolic diseases in a Spanish tertiary care hospital.

PATIENTS AND METHODS We conducted a retrospective descriptive study involving a review of the epidemiological data, reasons for visiting, diagnoses and complementary studies of the patients treated by a metabolic disease unit over a period of 6 years and 11 months.

RESULTS Altogether 1012 patients were evaluated. There was a predominance of males (52%) and of patients under the age of 1 year (42.09%). 71.44% of them were under 6 years old. Approximately half of the patients (50.3%) came from hospitals (wards, outpatients, neonatology, emergency department, neuropaediatrics and intensive care), followed by the neonatal screening programme (20.36%) and primary care (14.82%). The most frequent reasons for visiting and diagnoses can be seen in their respective tables.

CONCLUSIONS The study of the demand for health care in hereditary-metabolic diseases is useful as a means to detect needs in their field and to try to adapt care to meet them. Medical, scientific and social progress makes it necessary to have an expert in metabolism present in reference clinical units. As members of multidisciplinary teams alongside other specialists, they will contribute towards accomplishing a suitable presumptive diagnosis, diagnosis, management and follow-up. It is necessary to keep them constantly up-to-date and ensure adequate training of new experts in metabolism, since this is the best way to deliver optimal care for those with metabolic illnesses, which are usually rare diseases. KeywordsCare activity Genetic study Hereditary-metabolic disease Metabolism Neonatal screening Rare disease Tandem mass CategoriesCalidad, Gestión y Organización Asistencial

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Original

A study of the demand for health care in hereditary-metabolic diseases in a Spanish tertiary care hospital