Blutstammzelltransplantation bei Mukopolysaccharidose Typ 1H (Morbus Hurler)
Tóm tắt
Das Hurler-Syndrom (MPS 1H) ist eine progressive, autosomal-rezessiv vererbte Erkrankung der Mukopolysaccharide, die zu verminderter Lebensqualität und vorzeitigem Tod führt. Die präsentierten beiden Kasuistiken belegen den günstigen Verlauf der psychomotorischen Entwicklung bei Kindern mit MPS 1H nach Blutstammzelltransplantation (BSCT). Die intrakranialen, durch MRT nachgewiesenen Veränderungen—multiple fokale Läsionen und ausgeprägter Hydrozephalus—waren nach BSCT rückläufig. Zum Zeitpunkt der BSCT, die im Alter von 19 bzw. 32 Monaten durchgeführt wurde, wiesen beide Kinder eine psychomotorische Retardierung auf und zeigten die typischen Stigmata des Hurler-Syndroms. Aktuell sind beide Patienten in ambulanter Betreuung, eine Graft-versus-host-disease (GvHD) wurde nicht gesehen. Sie haben eine stabile Transplantatfunktion ohne rezidivierende Infektionen wie vor BSCT. Die psychomotorische Entwicklung macht bei beiden Kindern Fortschritte. Die BSCT ist Therapie der Wahl für Kinder mit einer MPS 1H. Fehlt ein HLA-identischer Familien-/ Fremdspender, kann die HLA-haploidentische BSCT erwogen werden.
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