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Klin Padiatr 2004; 216(3): 163-168
DOI: 10.1055/s-2004-822629
Therapieoptimierung

© Georg Thieme Verlag Stuttgart · New York

Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses and Leukodystrophies

Hämatopoetische Stammzelltransplantation bei Kindern mit Mukopolysaccharidosen und LeukodystrophienM. Sauer1 , S. Grewal1 , C. Peters1
  • 1Division of Pediatric Hematology/Oncology, Blood and Marrow Transplantation, University of Minnesota, Minneapolis, Minnesota, USA
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Publication History

Publication Date:
03 June 2004 (online)

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Abstract

The only effective treatment for selected metabolic diseases is a successful allogeneic hematopoietic stem cell transplantation (HCT). Best results with HCT are obtained when performed early in the course of the disease. Hence, timely identification and referral are critical. Also, early identification of affected patients during the newborn period via screening may be invaluable, particularly for the infantile onset rapidly progressive forms of diseases. Rapid availability of a donor graft is often crucial for these patients. Preliminary experience suggests that results after umbilical cord blood (UCB) transplant may be comparable to those after marrow transplants. UCB grafts have certain benefits of rapid availability and even reduced risk of GvHD. Hence, UCB transplant represents an alternative to marrow HCT. Related haploidentical HCT, possibly with very high doses of CD34+ cells, may also represent an option. However, expertise has been developed in very few transplant centers and no large reports are available of its use for patients with inherited metabolic diseases.

Zusammenfassung

Für bestimmte Mukopolysaccharidosen (MPS) und Leukodystrophien stellt die hämatopoetische Stammzelltransplantation die einzige Therapieform dar, die ein Langzeitüberleben ermöglicht. Die vorliegende Übersichtsarbeit konzentriert sich auf die Besprechung dieser beiden Gruppen, da sie die häufigsten Formen vererbter Erkrankungen des Stoffwechsels darstellen, die einer Therapie mit hämatopoetischen Stammzellen zugänglich sind. Nachdem zum heutigen Zeitpunkt eine ganze Reihe von Kindern transplantiert worden ist und Erfahrungen aus längeren Nachbeobachtungszeiten vorliegen, lassen sich klarere Aussagen über die Rolle der hämatopoetischen Stammzelltransplantation treffen. Entscheidend sind eine frühe Diagnose und eine zeitige Transplantation. Zusätzliche Supportivmaßnahmen wie logopädische Behandlung, Physiotherapie und orthopädische Betreuung tragen entscheidend zu guten Langzeitergebnissen bei. Trotzdem müssen noch große Anstrengungen unternommen werden, um transplantationsbedingte Nebenwirkungen und Spätfolgen zu minimieren.

Key words

Hematopoietic stem cell transplantation - inherited metabolic diseases - storage diseases - mucopolysaccharidosis - Hurler syndrome - leukodystrophy - adrenoleukodystrophy - Maroteaux-Lamy - metachromatic leukodystrophy - globoid-cell leukodystrophy

Schlüsselwörter

Hämatopoetische Stammzelltransplantation - Knochenmarktransplantation - Stoffwechselkrankheiten - lysosomale Speicherkrankheiten - Mukopolysaccharidosen - Leukodystrophien

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Dr. Martin Sauer

Abteilung Pädiatrische Hämatologie und Onkologie · Medizinische Hochschule Hannover

Carl-Neuberg-Strasse 1

30625 Hannover

Germany

Phone: +49/5 11-5 32-67 10

Email: sauer.martin@mh-hannover.de

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