Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Polyzystische Nierenerkrankung mit hyperinsulinämischer Hypoglycämie

Die hyperinsulinämische Herperglycämie mit polyzystischer Nierenerkrankung ist eine autosomal rezessive Erkrankung, die durch eine homozygote PMM2-Promotor-Mutation oder eine compound heterozygote Promotormutation mit einer kodierenden PMM2-Mutation ausgelöste wird. Die Erkrankung manifestiert sich früh in der Kindheit.


17 derartige Fälle in 11 Familien sind bisher beschrieben.[Error: Macro 'ref' doesn't exist]


Zystische Nierenerkrankungen
Alagille-Syndrom 2
Autosomal dominante polyzystische Nierenerkrankung
Autosomal rezessive polyzystische Nieren und Lebererkrankung
Branchio-oto-renale Dysplasie
Glomerulozystische Nierenerkrankung mit Hyperurikämie und Isosthenurie
Komplex medullärer Zystennierenerkrankungen
Nierenzysten und Diabetes (RCAD)
Polyzystische Nierenerkrankung mit hyperinsulinämischer Hypoglycämie



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OMIM.ORG article

Omim 601785 [^]
Update: 10. Mai 2019