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

Active, not recruiting
Conditions
Hepatocyte Nuclear Factor 1-beta
Registration Number
NCT00760331
Lead Sponsor
University Hospital, Limoges
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

Recruitment & Eligibility

Status
ACTIVE_NOT_RECRUITING
Sex
All
Target Recruitment
100
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

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (1)

CHU de Limoges

🇫🇷

Limoges, France

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