Long Term Follow up of a Cohort of Children With TCF2 Mutation:Evolution of Endocrine and Renal Function

University of Limoges (UL)

Status: Active, not recruiting

Conditions: Hepatocyte Nuclear Factor 1-beta

Study type: Observational

Funder types: Other

Identifiers

NCT00760331

I06026

Details and patient eligibility

About

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.

Full description

Biologic analysis and renal ultrasonography once a year.

After puberty or before kidney transplantation

• Abdominal and pelvic MRI
• Intravenous Glucose Tolerance Test

Enrollment: 100 estimated patients

Sex: All

Ages: Under 18 years old

Volunteers: No Healthy Volunteers

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