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Role of the primary care paediatrician in the care of the child with a rare disease
Dr. Francesc Palau

Rare diseases (RD) constitute a health problem in modern societies, where chronic pathologies condition a large part of healthcare activity. On their own they are rare, but together they make up a wide range of disease patterns. The primary care paediatrician may be faced with a child or adolescent suffering from a RD, of which he/she will probably have little experience. The aspects to be considered in the management of these diseases are the following: a) guide the diagnostic process to establish it as early as possible; b) participate in the primary care team to improve diagnostic capacity, provide follow-up and manage the patient's therapeutic plan, as well as the RD registry of the health area; c) maintain a close relationship with the reference unit of the university hospital, and d) be aware of the genetic tests performed and the genetic diagnosis, inheritance and risk of familial recurrence.

Papel del pediatra de atención primaria