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]
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OMIM.ORG article Omim 601785 |