Publication details
Papilorenální syndrom (Renální kolobomový syndrom)
| Title in English | Papillorenal syndrome (Renal coloboma syndrome) |
|---|---|
| Authors | |
| Year of publication | 2024 |
| Type | Conference abstract |
| MU Faculty or unit | |
| Citation | |
| Description | Papillorenal syndrome (Renal coloboma syndrome) is a congenital disease with autosomal dominant inheritance, dominantly affecting the development of the kidneys and eyes. Characteristic findings are renal hypodysplasia and malformation of the optic nerve. Mild hearing impairment and joint hypermobility may also occur in a small proportion of affected individuals. The disease is caused by mutations in the PAX2 gene, whose product is the transcription factor PAX2, which plays an important role during embryonic development. Kidney damage is accompanied by proteinuria, hypertension and leads to renal insufficiency, which progresses to end-stage renal disease at different ages. The consequences of eye malformations are highly variable and include reduced visual acuity to severe visual impairment. The authors present a family with the occurrence of this rare defect. Molecular-genetic examination revealed a variant in the PAX2 gene which had never been reported. |