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Die Nephrologie

Erschienen in:

18.11.2020 | Hereditäre Nierenerkrankungen | CME

Genetik in der Nephrologie

verfasst von: Korbinian Maria Riedhammer, Christoph Schmaderer, Uwe Heemann, Julia Hoefele

Erschienen in: Die Nephrologie | Ausgabe 6/2020

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Zusammenfassung

Wenn man über Genetik in der Nephrologie spricht, so gilt es, multifaktorielle Erkrankungen mit genetischer Komponente von klar erblichen Erkrankungen zu unterscheiden. Die erblichen Nierenerkrankungen sind genetisch sehr heterogen, wichtige Vertreter sind z. B. das Alport-Syndrom, die erblichen Podozytopathien und die Ziliopathien. Bei der genetischen Untersuchung sind die Bestimmungen des Gendiagnostikgesetzes zu beachten. Erbliche Nierenerkrankungen können einen stark überlappenden Phänotyp haben, und es ist wichtig, klinische Verdachtsdiagnosen, die mit der Testung der üblichen Gene nicht gesichert werden können, auch zu hinterfragen. Im Zweifel sollte ein (nephrogenetisch erfahrener) Humangenetiker hinzugezogen werden. Eine korrekte genetische Diagnose kann erhebliche Auswirkungen auf Prognose, Management und Therapie haben.

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Titel: Genetik in der Nephrologie
verfasst von: Korbinian Maria Riedhammer
Christoph Schmaderer
Uwe Heemann
Julia Hoefele
Publikationsdatum: 18.11.2020
Verlag: Springer Medizin
Schlagwörter: Hereditäre Nierenerkrankungen
Alport-Syndrom
Alport-Syndrom
Erschienen in: Die Nephrologie / Ausgabe 6/2020
Print ISSN: 2731-7463
Elektronische ISSN: 2731-7471
DOI: https://doi.org/10.1007/s11560-020-00463-1

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Genetik in der Nephrologie

Zusammenfassung

Leitlinien kompakt für die Innere Medizin

Neu im Fachgebiet Innere Medizin

Niedriger diastolischer Blutdruck erhöht Risiko für schwere kardiovaskuläre Komplikationen

Therapiestart mit Blutdrucksenkern erhöht Frakturrisiko

Adjuvante Immuntherapie verlängert Leben bei RCC

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