Klin Padiatr 2017; 229(06): 311-315
DOI: 10.1055/s-0043-120069
Review
© 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)

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.

 
  • References

  • 1 Allianz Chronischer Seltener Erkrankungen. www.achse-online.de – accessed March 27th, 2017.
  • 2 Bissler JJ, Kingswood JC, Radzikowska E. et al. Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet 2013; 381: 817-824
  • 3 Bundesministerium für Gesundheit. Seltene Erkrankungen – http://www.bundesgesundheitsministerium.de/themen/praevention/gesundheitsgefahren/seltene-erkrankungen – accessed March 27th, 2017.
  • 4 de Vries PJ, Whittemore VH, Leclezio L. et al. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol 2015; 52: 25-35
  • 5 DiMario Jr. FJ, Sahin M, Ebrahimi-Fakhari D. Tuberous sclerosis complex. Pediatr Clin North Am 2015; 62: 633-648
  • 6 Ebrahimi-Fakhari D, Meyer S, Vogt T. et al. Dermatological manifestations of tuberous sclerosis complex (TSC). J Dtsch Dermatol Ges 2017; DOI: 10.1111/ddg.13264.
  • 7 Ebrahimi-Fakhari D, Muller CS, Meyer S. et al. Topical Rapamycin for Facial Angiofibromas in a Child with Tuberous Sclerosis Complex (TSC): A Case Report and Long-Term Follow-up. Dermatol Ther (Heidelb) 2017; 7: 175-179
  • 8 EPISTOP - EPIleptogenesiS in a genetic model of epilepsy – Tuberous sclerOsis complex. http://www.epistop.eu – accessed March 27th, 2017.
  • 9 European Commission. Directorate: General for Health and Food Safety. Rare diseases – http://ec.europa.eu/health/rare_diseases/policy_en – accessed March 27th, 2017.
  • 10 Franz DN, Belousova E, Sparagana S. et al. Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet 2013; 381: 125-132
  • 11 Franz DN, Belousova E, Sparagana S. et al. Long-Term Use of Everolimus in Patients with Tuberous Sclerosis Complex: Final Results from the EXIST-1 Study. PLoS One 2016; 11: e0158476
  • 12 French JA, Lawson JA, Yapici Z. et al. Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study. Lancet 2016; 388: 2153-2163
  • 13 Goh S, Kwiatkowski DJ, Dorer DJ. et al. Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex. Neurology 2005; 65: 235-238
  • 14 Kingswood JC, d'Augeres GB, Belousova E. et al. TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients. Orphanet J Rare Dis 2017; 12: 2
  • 15 Krueger DA, Northrup H. International Tuberous Sclerosis Complex Consensus G. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 2013; 49: 255-265
  • 16 Mann L, Ebrahimi-Fakhari D, Heinrich B. et al. ESPED-Survey: TSC-disease in children and adolescents: preliminary results from a German epidemiological survey. Wien Med Wochenschr 2016; DOI: 10.1007/s10354-016-0522-6.
  • 17 Northrup H, Krueger DA. International Tuberous Sclerosis Complex Consensus G. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 2013; 49: 243-254
  • 18 Osborne JP, Fryer A, Webb D. Epidemiology of tuberous sclerosis. Ann N Y Acad Sci 1991; 615: 125-127
  • 19 Tuberöse Sklerose Deutschland e.V. www.tsdev.org – accessed March 27th, 2017.
  • 20 Van Arendonk KJ, James NT, Boyarsky BJ. et al. Age at graft loss after pediatric kidney transplantation: exploring the high-risk age window. Clin J Am Soc Nephrol 2013; 8: 1019-1026
  • 21 Van Groenendael S, Giacovazzi L, Davison F. et al. High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease. Orphanet J Rare Dis 2015; 10: 149
  • 22 Wetterauer B, Schuster R. Rare diseases. Funding programs in Germany and Europe. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz 2008; 51: 519-528