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Klin Padiatr 2017; 229(06): 311-315
DOI: 10.1055/s-0043-120069
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© Georg Thieme Verlag KG Stuttgart · New York

Optimized care in Patients with Rare Diseases: TSC at the Center for Rare Diseases (ZSEUKS) at Saarland University Medical Center, Germany

Optimierte Versorgung von Patienten mit seltenen Erkrankungen: TSC am Zentrum für Seltene Erkrankungen (ZSEUKS) am Universitätsklinikum des Saarlandes
Daniel Ebrahimi-Fakhari
1   Department of General Pediatrics and Neonatology, Saarland University Medical Center, Homburg, Germany
,
Martin Poryo
2   Department of Pediatric Cardiology, Saarland University Medical Center, Homburg, Germany
,
Norbert Graf
3   Department of Pediatric Haematology and Oncology, Saarland University Medical Center, Homburg, Germany
,
Michael Zemlin
1   Department of General Pediatrics and Neonatology, Saarland University Medical Center, Homburg, Germany
,
Marina Flotats-Bastardas
1   Department of General Pediatrics and Neonatology, Saarland University Medical Center, Homburg, Germany
,
Gunnar Heine
4   Department of Nephrology, Saarland University Medical Center, Homburg, Germany
,
Andreas Ragoschke-Schumm
5   Department of Neurology, Saarland University Medical Center, Homburg, Germany
,
Sascha Meyer
1   Department of General Pediatrics and Neonatology, Saarland University Medical Center, Homburg, Germany
› Author Affiliations
Further Information

Publication History

Publication Date:
13 November 2017 (online)

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Abstract

Providing comprehensive medical care for patients with rare diseases is both challenging and rewarding. We will give a short summary of the most relevant medical issues pertinent to this subject, and will illustrate some of these issues by sharing our experience in the care of patients with TSC disease.

Zusammenfassung

Die Behandlung von Kindern/Patienten mit seltenen Erkrankungen stellt einerseits an das Behandlungsteam große Herausforderungen, ist andererseits aber auch eine sehr bereichernde Erfahrung. Im Rahmen dieser gestrafften Übersichtsarbeit werden wir einige relevante medizinische Aspekte in der Behandlung dieser Patientenkohorten ansprechen und einzelne Gesichtspunkte dieser Problematik am Beispiel der TSC-Erkrankung veranschaulichen.

Key words

expert centers for rare diseases - transitional medicine - multidisciplinary care - tuberous sclerosis complex (TSC) - secondary care centers - national action plan for patients with rare diseases (NAMSE)

Schlüsselwörter

Zentren für Seltene Erkrankungen - Transition zur Erwachsenenmedizin - multidisziplinäre Versorgung - Tuberöse-Sklerose-Komplex (TSC) - Versorgungszentren - Nationaler Aktionsplan für Menschen mit seltenen Erkrankungen (NAMSE)
 

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