Die renale Aplasie 1 ist eine schwere Form der Fehlbildungen im Urogentialbereich (CAKUT). Das Spektrum reicht von bilateraler Aplasie (meist letal) über unilaterale Aplasie mit kontralateraler Hyposdysplasie bis hin zu den schweren angeborenen Obstruktionen im Harntrakt. In den verantwortlichen Genen können ein (dominant) oder zwei (rezessiv) Allele betroffen sein.
Nierenfehlbildungen | |
Die schweren Fehlbildungen bei Nierenaplasie Typ 1 sind oft lebensbedrohlich. |
Renale Hypodysplasie/Aplasie | ||||
GREB1L | ||||
Renale Hypodysplasie/Aplasie 1 | ||||
DSTYK | ||||
ITGA8 | ||||
PAX2 | ||||
RET | ||||
UPK3A | ||||
Renale Hypodysplasie/Aplasie 2 | ||||
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