Hepatocyte Nuclear Factor 1-beta
Conditions
Keywords
HNF1B, TCF2, MODY-5, CAKUT, Anomaly of renal development
Brief summary
Anomalies of renal development are well know for patients treated for MODY-5 diabetes due to TCF2 mutation.A recent study confirms the existence of pediatric patients having TCF2 mutation but presenting renal anomalies alone.Endocrine and renal evolution of these patients is unknown.The aim of this study is to follow a cohort of patients with TCF2 mutation and initially presenting renal anomalies alone.
Detailed description
Biologic analysis and renal ultrasonography once a year. After puberty or before kidney transplantation * Abdominal and pelvic MRI * Intravenous Glucose Tolerance Test
Interventions
None listed
Sponsors
Study design
Eligibility
Inclusion criteria
* Patients presenting an anomaly of renal development due to TCF2 mutation * Age\<18 years old
Exclusion criteria
* Anomaly of renal development without TCF2 mutation * Age≥18 years old * Parents or patients refusing to participate to the study
Countries
France