Rare diseases in pediatrics: from diagnostics and treatment of individual diseases to the construction of network structures

Hoffmann, G. F., Mundlos, C., Doetsch, J. and Hebestreit, H. . Rare diseases in pediatrics: from diagnostics and treatment of individual diseases to the construction of network structures. Mon.schr. Kinderheilkd.. NEW YORK: SPRINGER. ISSN 1433-0474

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DOI:10.1007/s00112-020-00978-w

Abstract

The treatment of people with rare diseases is a huge task for the healthcare system. The majority of these developments occur in pediatrics as more than 80% of rare diseases are manifested in childhood and adolescence. Despite rapid diagnostic and therapeutic progress, reliable treatment and care concepts with sufficient personnel continuity and expertise in the outpatient and also inpatient areas were and are often lacking. In Germany approximately 4 million people are currently affected by a rare disease and every pediatrician from outpatient pediatrics to highly specialized units of university hospitals will regularly encounter these patients. In recent years the diagnostic and now increasingly also causative therapeutic possibilities could be decisively improved. This process is extremely dynamic as shown by the current development and discussion on the causative genetic treatment of spinal muscular atrophy. In 2013 a National Plan of Action for People with Rare Diseaseswas finalized and consented with decisive inclusion of self-help, which provides essential work for those affected by rare diseases and their relatives. This aim is the successful implementation of medical advances in the healthcare system. This prioritizes interdisciplinary treatment structures and the structuring of centers for rare diseases. To implement the necessary new concepts and structures into the German healthcare system, projects supported by the innovation fund have successfully been started. The German Society of Pediatrics and Adolescent Medicine (DGKJ) has now created a new committee for rare diseases, involving the umbrella patient organization, the Alliance of Chronic Rare Diseases (ACHSE) and the German Society of Human Genetics (GFH). This should be dedicated to this special topic and provide consultative support for this positive development. This article gives an overview of the current state of the art and provides stimulation for discussion.

Item Type:

Journal Article

Creators:

Creators	Email	ORCID	ORCID Put Code
Hoffmann, G. F.	UNSPECIFIED	UNSPECIFIED	UNSPECIFIED
Mundlos, C.	UNSPECIFIED	UNSPECIFIED	UNSPECIFIED
Doetsch, J.	UNSPECIFIED	UNSPECIFIED	UNSPECIFIED
Hebestreit, H.	UNSPECIFIED	UNSPECIFIED	UNSPECIFIED