Renal HYPODYSPLASIA : Genetic and Familial Assessment

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

342 participants

Study Classification

OBSERVATIONAL

Study Start Date

2009-04-30

Study Completion Date

2014-07-31

Brief Summary

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Evaluation of the frequency of familial cases of renal HYPODYSPLASIA

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Detailed Description

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DNA collection from the propositus and its family. A questionnaire will be filled by the parents to seek other affected individual in the family.With another affected member, DNA collection will be collected from the whole family.

A renal ultrasound will be prescribed for the parents, brothers and sisters.

Conditions

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Renal HYPODYSPLASIA, Nonsyndromic, 1

Study Design

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Observational Model Type

COHORT

Study Time Perspective

OTHER

Eligibility Criteria

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Inclusion Criteria

\- Children aged more than 3 months and less than 18 years old with a renal bilateral HYPODYSPLASIA set by renal ultrasound examination :

* renal size \< -2DS
* with/or hyperechogenicity or lack of cortical-medullary differentiation
* with/or renal cysts

Exclusion Criteria

* Bladder uropathy or sus-bladder uropathy
* Recessive or dominant renal polycystic disease
* Bardet-Biedl syndrome and other malformative syndromes except renal coloboma syndrome, Renal cysts and diabetes syndrome RCAD
* Lack of written informed consent

Minimum Eligible Age

3 Months

Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No