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Am Beispiel der Multiorganerkrankung X\u2011chromosomale Hypophosphat\u00e4mie (XLH), der h\u00e4ufigsten angeborenen Rachitisform, wird das Betreuungskonzept dargestellt.<\/jats:p><jats:p>Der Erkrankung liegen inaktivierende Mutationen im \u201ePhosphate-regulating gene with Homologies to Endopeptidases on the X\u2011chromosome\u201c(PHEX)-Gen zugrunde, die zu einer vermehrten Synthese und Sekretion des Fibroblastenwachstumsfaktors\u00a023 (FGF23) f\u00fchren. FGF23 hat eine wichtige Funktion in der Phosphathom\u00f6ostase. Durch die hohen FGF23-Konzentrationen kommt es \u00fcber den renalen Phosphatverlust zur schweren Hypophosphat\u00e4mie mit der Folge erheblicher Mineralisationsst\u00f6rungen des Skelettsystems und der Z\u00e4hne. Stand bis vor Kurzem nur eine konventionelle medikament\u00f6se Therapie aus Phosphat und aktivem Vitamin\u00a0D zur Verf\u00fcgung, so ist nun mit dem neutralisierenden FGF23-Antik\u00f6rper eine gezielte Therapie der Erkrankung m\u00f6glich. Das multiprofessionelle Betreuungskonzept umfasst zahlreiche \u00e4rztliche Spezialisten und ein psychosoziales Team. Ziel der Betreuung ist es, den Patienten mit ihrer schweren chronischen Erkrankung eine altersentsprechende Partizipation ohne gr\u00f6\u00dfere Teilhabest\u00f6rung zu erm\u00f6glichen. Die Fortsetzung der Betreuung im Erwachsenenalter muss durch eine implementierte Transition sichergestellt werden.<\/jats:p>","DOI":"10.1007\/s00103-020-03171-2","type":"journal-article","created":{"date-parts":[[2020,6,10]],"date-time":"2020-06-10T10:03:03Z","timestamp":1591783383000},"page":"813-820","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Biopsychosoziales Betreuungskonzept f\u00fcr Kinder mit X\u2011chromosomaler Hypophosphat\u00e4mie (XLH)","Biopsychosocial care concept for children with X\u2011chromosomal hypophosphatemia (XLH)"],"prefix":"10.1007","volume":"63","author":[{"given":"Dirk","family":"Schnabel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,6,10]]},"reference":[{"key":"3171_CR1","first-page":"115","volume-title":"Sozialp\u00e4diatrie \u2013 State of the Art und Zukunftsperspektiven","author":"D Schnabel","year":"2020","unstructured":"Schnabel\u00a0D (2020) Multiprofessionelle Betreuung von chronisch kranken Kindern im Sozialp\u00e4diatrischen Zentrum der Charit\u00e8 Berlin. 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