Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Imerslund-Grasbeck-Syndrom

Das Imerslund-Grasbeck-Syndrom ist eine autosomal rezessive megaloblastäre Anämie mit Proteinurie die durch Mutationen des intestinalen Intrinsic-Factor-Rezeptors ausgelöst wird. Dieser Rezeptor wird von den beiden Genen CUBN und AMN gebildet. Da dieser Rezeptor auch von proximalen Tubuluszellen verwendet wird um glomer filtriertes Eiweiß zu endozytieren resultiert bei Mutationen nicht nur ein Vitamin B-Mangel sondern auch eine tubuläre Proteinurie.

Gliederung

Endozytosestörungen der proximalen Tubulusfunktion
Donnai-Barrow-Syndrom
Imerslund-Grasbeck-Syndrom
AMN
CUBN

Referenzen:

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44.

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46.

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47.

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