Is there any way to detect the possibility of having congenital poly-cystic kidney disease? Or, can I detect the possibility of having adult poly-cystic kidney disease in a child in their young age if the mother have the ADPKD?
Sk. Imran Ali wrote:
> Is there any way to detect the possibility of having congenital
> poly-cystic kidney disease..???
I found an article with ultrasound. I'm not a medic.
http://www.eurekalert.org/pub_releases/2008-10/ason-rpn102108.php
Regards,
Joachim
Two websites you may find helpful:
1. Information about the inheritance and genetic testing for autosomal dominant polycystic kidney disease: http://www.ncbi.nlm.nih.gov/books/NBK1246/
2. Information on how to find a genetic counsellor (international listings included in membership in US organization): http://www.nsgc.org/
A possibile approach is to submit the mother to a genetic testing for the screening of mutations of PKD1 and PKD2 genes, related to ADPKD. If a mutation is present, it is possible to test the child for the presence of the same mutation.
Dr. Stuppia is correct. I believe this test is available, but I have to wonder about whether it should be done. In my practice, it only really became clinically relevant when we considered the child of a patient with ADPKD as a possible donor. Even though US is pretty sensitive by age 21, it isn't 100%, and we felt that we sometimes needed more to ensure that it was safe for a child to donate a kidney. My head spins at the implications of testing the fetus for ADPKD; would you abort? Would knowing about a disease likely to present in the 4th or 5th decade be helpful to a parent?
Do you mean autosomal recessive or autosomal dominant? AD is typically by ultrasound, but cysts do not appear until around teens or later. Normal scans by 30 are very reassuring. Mutation analysis is problematic, and extraordinarily expensive. In UK we would not offer predictive testing on children, but wait until they are adults.
ARPKD is usually a fetal ultrasound or pathology diagnosis. Mutation analysis is then available, but typically only on the affected fetus in the first instance. Carrier testing can then be offered to other family members.
We're talking about ADPKD (or at least I am). I thought as you do that scans are very reassuring, but sadly, they aren't quite as good as I used to think, especially for PKD2 mutations and younger individuals. The latter situation comes up when a 21 yo person wants to donate to a parent with ADPKD....Even if the US is clean, the sensitivity even for PKD1 mutation just isn't good enough; ergo, we use genetic testing in those situations. In contrast, a 40 yo donor with no cysts probably doesn't need further evaluation (at least with PKD1 mutations in the family)..I've attached a citation by Pei and colleagues....
J Am Soc Nephrol. 2009 Jan;20(1):205-12. Epub 2008 Oct 22.
Unified criteria for ultrasonographic diagnosis of ADPKD.
Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, Parfrey P, Cramer B, Coto E, Torra R, San Millan JL, Gibson R, Breuning M, Peters D, Ravine D.
I totally agree with Dr. Shapiro. If the question is just about the possibility to detect if a child have inherited a mutation responsible for ADPKD from her mother, the answer is yes, and this was the meaning of my post. But the usefulness of this early diagnosis is a completely different story. Moreover, for no reason I would suggest a prenatal diagnosis of ADPKD.
Another reason for pursuing genetic testing would be that if the family wants to use the information for preimplantation genetic diagnosis (PGD). Genetic counseling is essential prior to undertaking (or not undertaking) any genetic testing.
Testing is avaialble for both common genes that are associated with adult onset poly cystic kideny disease. The cysts can become evident on ultrasound or MRI at nearly any age. A few infants will have cysts in the prenatal period. Cysts can first be come evident as late as 30 years. There are many reasons to consider the molecular testingin infants and children. Testying can also be done in the prenatal period if desired.
In my experience the prenatal testing is only done when there are multiple renal cysts. The prognosis for (usually adult onset) autosomal dominant polycystic kidney disease so differentiating that from either recessive (usually prenatal or pediatric onset) polycystic kidney disease or multicystic dysplastic kindeys can be important.
Testing in children and adolescents can be used to plan monitoring and reassure families regarding risks. It can also be sued to paln for potential kidney donations but that woudl only apply to fairly late adolescents. There used to be a strong fear of testing children for diseases that usually have the major manifestations in adulthood. This was based on the risk of insurance discrimination and was a valid concern. However there are now fedral and state laws that forbid use of presympomatic genetic test results to determine eligibility or costs for health insurance. It is therefore safe and potentially helpful to test and know potential risks. In additon it is common to have cycts or proeinuria realted to this disorder before adulthood. Th etesting is quite good but as with most genetic disease is not 100% sensitive. Testingis also available for recessive polycystic kidney disease but is less frequerntly done becasu emany of the affected patients die before testing is even considered. There is no good testing for multicystic dyplastic kidneydisease in part becasue many cases are not genetic and becasue there is great heterogeneity in the underlying pathology. The genes involved in autosomal dominant polycystic kidney disease are PKD1 and PKD2. Genetic counselingis essential prior to ordering the test if you want to avoid angry disatisfied customers.
Thank to all....for your discussions. I need to clear something.....for having the right answers from you guys. Here,s the complete story:
Its about my wife. It was before our marriage, when I first met her at the age of 18 yrs, she told me that she had cystic kidney. It made me astonished when I came to know that she had a congenital nephroblastoma in the right kidney and that kidney was removed by nephrectomy at the age 19 day of birth. After that she was normal for almost 13 yrs untill Doctors found multiple cysts on her left kidney. Right now she 26 yrs of age and carrying her first child of about 9 weeks.
Some interesting points are, all the doctors indicated her cysts as ADPKD, but as fur I know cysts of ADPKD usually arise at a later age (around 30+). Another thing, she had no family history of PKD. I'm quite confuse that is she a rare patient of Recessive PKD...??? Was her congenital tumor was not a tumor but cysts....??? Cause in that early time all the case histories were not properly documented. And now, is there any possibility of carrying the disease to our child....???
Thank you once again for your precious opinion.
The story is not suggestive of recessive PKD. That disorder has neonatal polycistic kidneys often so severe the fetus is anuric and the infant has hypoplastic lungs.
The cysts in autosomal dominant polycystic kidney disease are often visible if you look for them before age 30 but it is unusual (not unheard of) to have renal failure or other severe complications before age 30. There are many other causes of multiple kidney cysts. The appearance of the cysts on imaging studies can be helpful as can kidney biopsies. If the main question is the autosomal dominant poly cystic kidney disease the genetic test on the affected person is a sensitive and specific test. The testing is done on blood or DNA purified from blood. I don't know what labs might offer testing outside the USA.
Given a history of nephroblastoma you might consider mutations in WT1 a different gene on chromosome 11. When it is mutated there is an increase in risk for nephroblastoma, renal cysts can also be associated. This can eventually lead to renal failure, so evaluation is important not only for children but for the affected individual. There are several other genes associated with similar findings like WT2, and WT5. It is not possible to predict risks to offspring without more details on the affected parent.
Thanks a lot Robert......you mention about the genetic test is sensitive and specific for the affected person of ADPKD. But is it possible to perform the same test on the fetus...???
How sensitive and specific the genetic test....??? I mean, If I want to screen for ADPKD, though I am quite OK right now, is it possible.....???
One more thing to know, (hope u'll not feel disturb) as UTI is quite recurrent for ADPKD patient, will it affect the fetus...??? Can antibiotics be prescribed during pregenency...??? If not, it will be fatal for the mother....
I'm not quite sure what is coming in the future......Pls, pray for us....
There is really no reason in the description given for the father to be tested for ADPKD. Even the mother is questionable. Prenatal testing for ADPKD is technically possible but you would need to identify a lab that is willing to offer prenatal testing and is close enough. Then you woudl need an amniocentesis to get cells from the fetus that could be tested.
I think you would be better off in this situation to see a nephrologist and / or a geneticist to see what the most likely diagnosis is before doing any testing. The early history of nephroblastoma followed by renal cysts developping makes me think there is a different explanation than ADPKD. ADPKD is not usually associated with nephroblastoma and is usually associated with a family history of other people who have had renal failure or other complications of that disease. There are a number of rare kidney diseases that could be considered. You can go to the OMIM website and search nephroblastoma to get an idea about some of them.
As for UTI and pregnancy. There are several antibiotics that are considered safe in pregnancy and should be used in symptomatic infection especially if there is prexesiting kidney disease because preserving the mother's health is important to a good out come for both the baby and the mother.
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