{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T09:22:15Z","timestamp":1766049735616},"reference-count":12,"publisher":"Georg Thieme Verlag KG","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Klin Padiatr"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>ZUSAMMENFASSUNG<\/jats:title><jats:p>\nEinleitung Die 5q-assoziierte spinale Muskelatrophie ist eine der schwersten und h\u00e4ufigsten genetischen Erkrankungen. In den letzten Jahren wurden innovative Therapiemethoden entwickelt, die auf der Modifikation des SMN2-Gens, z.B. mittels Splei\u00dfmodifikatoren oder dem Ersatz des gesch\u00e4digten SMN1-Gens basieren (Genersatztherapie, GRT). Es ist bekannt, dass die GRT von Off-Target-Effekten wie einer vor\u00fcbergehenden Erh\u00f6hung der Leber- und Herzenzyme begleitet wird, die in der Regel keine ernsthafte klinische Relevanz haben. Wir berichten \u00fcber ein 4 Jahre altes M\u00e4dchen, das nach GRT bei 5q- SMA eine TMA entwickelte.<\/jats:p><jats:p>\nFallzusammenfassung Ein 4 Jahre altes M\u00e4dchen bildete 7 Tage nach einer GRT mit Onasemnogene-Abeparvovec eine TMA mit h\u00e4molytischer An\u00e4mie, Thrombozytopenie und Nierenversagen. Letzteres war gekennzeichnet durch eine Kreatinin-Erh\u00f6hung, Oligurie, Hypertonie, Protein- und H\u00e4maturie und \u00d6deme. Nach Therapie mit Eculizumab und Gabe von Antihypertensiva normalisierten sich die h\u00e4molytische Aktivit\u00e4t, die Thrombozytenzahl, die Nierenfunktion als auch der Blutdruck innerhalb einer Woche.<\/jats:p><jats:p>\nEmpfehlung und Schlussfolgerung Die Indikation zur Plasmapherese, H\u00e4modialyse oder Eculizumab-Therapie muss m\u00f6glicherweise schnell gestellt werden. Bei engmaschiger \u00dcberwachung der Laborparameter kann durch eine ad\u00e4quate Therapie ein gutes Outcome erreicht werden. Daher sollte die GRT nur in Zentren durchgef\u00fchrt werden, die neben der neurop\u00e4diatrischen Expertise auch \u00fcber eine p\u00e4diatrische Nephrologie verf\u00fcgen.<\/jats:p>","DOI":"10.1055\/a-1538-4936","type":"journal-article","created":{"date-parts":[[2021,8,13]],"date-time":"2021-08-13T22:39:09Z","timestamp":1628894349000},"page":"42-47","source":"Crossref","is-referenced-by-count":9,"title":["Thrombotische Mikroangiopathie (TMA) nach Genersatztherapie (GRT) bei spinaler Muskelatrophie: Ein Fallbericht und Therapieoption"],"prefix":"10.1055","volume":"234","author":[{"given":"Damian","family":"Witte","sequence":"additional","affiliation":[{"name":"Clinic for Pediatric Kidney-, Liver-, and Metabolic Diseases, Hannover Medical School Centre for Paediatrics and Adolescent Medicine, Hannover, Deutschland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans","family":"Hartmann","sequence":"additional","affiliation":[{"name":"Clinic for Pediatric Kidney-, Liver-, and Metabolic Diseases, Hannover Medical School Centre for Paediatrics and Adolescent Medicine, Hannover, Deutschland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jens","family":"Drube","sequence":"additional","affiliation":[{"name":"Clinic for Pediatric Kidney-, Liver-, and Metabolic Diseases, Hannover Medical School Centre for Paediatrics and Adolescent Medicine, Hannover, Deutschland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dieter","family":"Haffner","sequence":"additional","affiliation":[{"name":"Clinic for Pediatric Kidney-, Liver-, and Metabolic Diseases, Hannover Medical School Centre for Paediatrics and Adolescent Medicine, Hannover, Deutschland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Illsinger","sequence":"additional","affiliation":[{"name":"Clinic for Pediatric Kidney-, Liver-, and Metabolic Diseases, Hannover Medical School Centre for Paediatrics and Adolescent Medicine, Hannover, 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