Renal HYPODYSPLASIA : Genetic and Familial Assessment

Assistance Publique - Hôpitaux de Paris342 enrolled

Overview

Evaluation of the frequency of familial cases of renal HYPODYSPLASIA

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.

Study Type

OBSERVATIONAL

Enrollment

342

Conditions

Renal HYPODYSPLASIA, Nonsyndromic, 1

Eligibility

Sex: ALLMin age: 3 MonthsMax age: 18 Years

Medical Language ↔ Plain English

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

Locations (1)

Necker Hospital

Paris, France

Outcomes

Primary Outcomes

Evaluation of the heritability of renal HYPODYSPLASIA (on the renal ultra sound) and DNA collection to make possible identification of predisposing genes

Time frame: the same day

Data from ClinicalTrials.gov

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