pottersbaby

Institute of child health.
Great Ormond street hospital for children NHS trust
University College London.

Clinical and genetics study of duplex kidneys.

Dear Susan,
Following on from our telephone conversation on Friday, I am writing again with some information about the study that we are doing at institute of child health and great Ormond Street. We are looking at kidney problems that may be inherited, and are trying to find out what changes might change in a persons genetic make-up that would change the way the kidneys develop. I am particularly looking at duplex kidneys. But we know that these can sometimes be connected to other kidney problems as well, and so you might have a family who have different problems mixed together.
From the information that you gave me when we spoke before, and from what Dr Donnai at Manchester has told us, it would seem that there is a mixture of different kidney problems running in the family, and so it would be very interesting for us to involve you in the study.
You will see the information sheet that I have enclosed that we have also been looking at babies who have kidney problems picked up on scans before birth, and also if there are people in a family who have never had a scan, We have been arranging for them to have scans to check if there kidneys have formed correctly.(this is because especially with duplex
Kidneys, the kidney might be functioning perfectly well and a person wouldn’t know they had a different anatomy unless you did a scan)
As we discussed on the phone, I think DR Donnia recommended to your own doctors that all of your children should be scanned just to make sure their kidneys are ok-I will chase up on this. As far as your involvement in the study would go I would like each person in your family (i.e. immediate family and your sister Jill) to have a blood test which I would then use to look at the genes which control the way the kidneys develop- We compare any differences that we might find between those family members who are known to have a kidney problem, and those whose kidneys are normal. The samples are not used for any other testing.
I will be speaking to Linda Willis, the Genetics nurse at Manchester, on Monday, and I will give you a call in a couple of days to make sure that you have this letter safely! If you are all happy to go ahead, Linda will arrange a time to meet you at Lancaster when she will take the samples and then send them down to me.
Thanks again for your help, and I will speak to you in few days time.
Thanks sincerely
Dr Melissa Whitten
Research fellow to Dr Lyn Chitty and Mr Duncan Wilcox
Department of Clinical and Molecular Genetics
Institute of childcare.

PATIENT INFORMATION SHEET.
A family and genetics study of duplex kidneys.

Aims of the study.
1. To see if child’s duplex kidney has caused any problems.
2. To see if anyone in the family has a duplex kidney.
3. To collect blood samples so that we can try and identify the gene responsible for a duplex kidney.

Why is the study done?
Most pregnant women in the UK are now scanned in pregnancy to see whether or not there are any problems in developing baby. In some cases we find ‘problems’ which may or may not cause difficulties in childhood. Duplex kidneys are one of the findings. This is a condition that can be found as a completely incidental finding when somebody is having a scan for some other reason in later life. One of the reasons for doing this study is so that we try and determine what problems have occurred in babies as they grow who have a duplex kidney detected at birth. Gaining knowledge if any in this area will help us advise parents who are faced with this finding in early pregnancy in the future. Kidney problems can occur alone or sometimes-in association with other abnormalities. Many of these problems occur only once in a family, some run in families, so if one child is affected there is an increased risk that another member of the family will be affected. This suggests that there is an inherited or genetic basis for some abnormalities, (i.e. the problem runs in families) Indeed duplex kidneys can run be seen to run in families. Studying the genetics of those abnormalities will lead to further understanding of how these disorders arise and what might be a possible treatment for them in the future.

How will the study be done?
The study involves discussing the medical details of the family with a doctor, some family members may then be asked to have a kidney ultrasound scan. This is a completely painless procedure involving an application of gel to the abdomen and then a probe is then run over to look at the kidneys. A blood sample will be taken from some family members, but only if we find more than one person in the family with duplex kidney. If required anaesthetic cream will be applied before taking blood to allow for painless test. The blood sample will be taken for genetic studies of duplex kidneys, and will not be used for any other genetic research unrelated to duplex kidneys without consent. At the end of the study the sample will be discarded. We would like to record your babies NHS number and contact you in the future to see if any other problems have arisen.

What are the risks and discomforts?
There are no proven risks from ultrasound scanning. Occasionally blood sampling is associated with minimal bruising at the site of the puncture.

What are the potential benefits?
The study will be unlikely to benefit most families directly since most family members will have normal kidneys. If however any problem is found which benefit from medical treatment we will ensure that such treatment can be instituted. In addition there will be long term benefits from the research in terms of an increased understanding of the clinical significance of duplex kidneys, which have been diagnosed prenatally, and it will help us advise parents in the future.

Who will have access to case records.
Case records will be kept in medical records department in the hospital as usual and access to notes which we make following the consultation or investigation will be restricted to the members of the research team or of medical and nursing team normally involved in your case.
Complaints and questions.

If you have any complaints or questions about the way the research project has been carried out please discuss this with your doctor. Alternatively contact Dr Lyn Chitty at the fetal medicine unit, Elizabeth Garrett Anderson hospital, Huntly Street, London WCIE 6AU or Mr Duncan Wilcox at the department of paediatric urology, Great Ormond street Hospital London WCIN 3JH. If you are still unhappy with the response please contact the chairman of medical ethical committee at university college hospital London.

PERSONNEL
The research is being carried out by:
Dr Melissa Whitten.
Fetal medicine unit, Elizabeth Garrett Anderson hospital (part of university hospital)
Huntley Street London WCIE 6AU
Dr Lyn Chitty fetal medicine unit, Elizabeth Garrett Anderson hospital
Mr Duncan Wilcox
Department of paediatric urology, Great Ormond Street Hospital for sick children.
Dr Rose De Bruyn Radiology department Great Ormond street hospital for sick children.

Summary
This study aims to look carefully for any problems encountered in childhood and babies who have had prenatal diagnosis of duplex kidneys. This study further aims to screen family members to see if they have any renal malformations by using ultrasound and to collect blood samples from family members so that we can try to discover the gene or genes underlying these kidney malformations. Consenting to donate samples for a genetic study is not a diagnostic test. However if a test for your family became available in the next few years then you would be contacted and informed the possibility
Of genetic counselling prior to such a test being offered.

Piczo