Research Project

Project Title:

ERKNet study on HNF-1ß gene anomalies

Project Type:

Registry

Disease group(s):

AD structural kidney disorders, Congenital Malformations & Ciliopathies

Project Summary:

Prediction of kidney disease progression in patients with HNF-1ß gene anomalies is key in their management. A number of cross-sectional studies have shown absence of genotype-phenotype correlations in patients with HNF-1ß gene anomalies. Few studies focused on disease progression and these studies were small scale probably with not enough power to identify differences.
ERKNet provides an unique opportunity to collect data on a large set of patients with HNF-1ß gene anomalies and assess the influence of the type of HNF-1ß anomaly, transmission and ultrasound pre! sentation on disease progression.

Lead principal investigator(s):

Stephane Decramer, Toulouse
Joost Schanstra, Toulouse

Project Period:

09/2020   -   12/2022

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