Autoszomális domináns
Caused by a change in one copy of the PBX1 gene, which plays a crucial role in kidney development. Several reported changes arose de novo.
Tünetek és jelek
Small or abnormally formed kidneys, often on both sides, and other urinary tract differences, which can lead to reduced kidney function. Ear malformations and developmental delay are the most frequent features beyond the kidneys.
Mit változtat a diagnózis
Kidney and urinary tract monitoring by a nephrologist, ear and hearing checks, and developmental assessment and support. Several cases arise de novo, but genetic counselling and parental testing help clarify recurrence risk.
Vizsgált gének
Más néven
CAKUTHED
