Renal HYPODYSPLASIA : Genetic and Familial Assessment (HDR)

Assistance Publique - Hôpitaux de Paris

Status: Completed

Conditions: Renal HYPODYSPLASIA, Nonsyndromic, 1

Study type: Observational

Funder types: Other

Identifiers

NCT00925379

P070151

Details and patient eligibility

About

Evaluation of the frequency of familial cases of renal HYPODYSPLASIA

Full description

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.

Enrollment: 342 patients

Sex: All

Ages: 3 months to 18 years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

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