Genetic investigation of Renal Dysplasia, version 1
Research type
Research Study
Full title
Genetic investigation of Scottish Children and Young people with Renal Dysplasia
IRAS ID
216870
Contact name
Heather Maxwell
Contact email
Sponsor organisation
NHS Greater Glasgow and Clyde
Duration of Study in the UK
1 years, 0 months, 1 days
Research summary
Renal dysplasia is a condition in which the kidneys do not develop properly in the womb; it is one of the commonest reasons for kidney failure in childhood. The cause of renal dysplasia is increasingly being associated with single gene disorders. The HNF1B gene mutation is the commonest single gene disorder causing renal dysplasia in children. It can cause a variety of kidney and non kidney problems, for example, Diabetes. It is likely that many cases of HNF1B mutation are still undiagnosed due to the variability of the abnormalities seen. We know about some of the features that are associated with HNF1B but it is still not clear who should be tested.
We plan to test for HNF1B mutation in children in Scotland known to have renal dysplasia. We will also look to see if they have abnormalities of other parts of the body which may be associated with HNF1B or other single gene disorders; these features are called the clinical phenotype. If the test for HNF1B is negative, we will test for other genetic abnormalities from the stored blood sample.
This study will be done in Scotland and all children with renal dysplasia who are currently or previously known to the paediatric renal team can be included. It will be based at the Royal Hospital for Children (RHC)or Queen Elizabeth Hospital and any district hospitals that have outreach clinics run with the paediatric renal team.
Having a specific diagnosis for your kidney problem is useful because it means we can give patients better information about their prognosis, we can test other family members who may be affected and give families advice about the likely recurrence in future children. It will further our knowledge about the phenotype of renal dysplasia.REC name
HSC REC A
REC reference
16/NI/0265
Date of REC Opinion
18 Jan 2017
REC opinion
Further Information Favourable Opinion