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Doctor insights on: Polycystic Kidney Disease Genetic Testing

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Dr. Scott McLean
1,243 doctors shared insights

Genetic Testing (Definition)

Prenatal testing for genetic problems may be done before or after conception. Testing for spina bifida or Down syndrome is done after a pregnancy is established. Besides the couples listed above, counseling and diagnosis are also recommended for mothers over the age of 35, and those who have received abnormal screening test results, such as alpha-fetoprotein (AFP). For more information about the alpha-fetoprotein test, and when and why you might have it, see alpha-fetoprotein. For those who may be at risk, genetic counseling and prenatal diagnosis are used to help ...Read more


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How would I go about getting a genetic test for polycystic kidney disease before ttc?

How would I go about getting a genetic test for polycystic kidney disease before ttc?

Genetic Counselor: See a genetic counselor to arrange testing. University hospitals have clinical or medical genetics divisions. Otherwise, your OB doctor, a fertility clinic, or a maternal fetal medicine or high-risk OB clinic can refer you. If the testing is positive, see a reproductive endocrinologist before you get pregnant to discuss preimplantation genetic diagnosis (pgd) to prevent your child from having pckd. ...Read more

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How would I go about getting a genetic test for polycystic kidney disease (pkd) to see if I might pass it on?

How would I go about getting a genetic test for polycystic kidney disease (pkd) to see if I might pass it on?

See your doctor: The best place to start is with your primary care physician. A very thorough family history and an ultrasound will help determine if you have pkd. You will need to see a nephrologist and maybe a geneticist to determine what kind of PKD you have. The risk of passing PKD to your children depends on getting the correct diagnosis. Genetic testing would usually be ordered by one of those specialists. ...Read more

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What to do if I have 4-month old girl patient with polycystic kidney disease.w/o genetic studies, how do I know w/c type?

What to do if I have 4-month old girl patient with polycystic kidney disease.w/o genetic studies, how do I know w/c type?

Polycystic kidneys: You have a wonderful children's hospital in Philadelphia. Call their urology department for help with your infant daughter.Their genetics department will also bevery helpful ...Read more

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Is autosomal dominant polycystic kidney disease testing available ?

Is autosomal dominant polycystic kidney disease testing available ?

Yes, but......: Testing for this disease is safe and simple but beware of what you ask for. Knowing that you have polycystic kidney disease will make it difficult or expensive to obtain life and health insurance. Best to get these issues under control first as early diagnosis (before renal insufficiency) offers no benefit. Knowing that you have the gene prior to having children is useful for family planning. ...Read more

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Autosomal dominant polycystic kidney disease testing involves what kinds of tests?

Autosomal dominant polycystic kidney disease testing involves what kinds of tests?

See below: The current diagnostic criteria to detect cyst in the kidney is by ultrasound, however this is not a 100% accurate way as very small cysts can be missed. Ct scan can detect cysts which are smaller like 1 mm.There are no diagnostic criteria dveloped for ct scan yet. In case a young kidney donor wants to donote, but make sure he/she doesnot have the disease, there are genetic tests available. ...Read more

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Can you tell me much about polycystic kidney disease?

Can you tell me much about polycystic kidney disease?

Genetics etc: Most common is autosomal dominant polycystic kidney disease, adpkd, 50 % of offspring will develop it. Much less common is infantile or autosomal recessive polycystic renal disease, arpkd, inherited by 25% of kids of same parents who are both "carriers". Neither curable, infantile requires treatment from birth with early nephrectomy + dialysis ; transplantation. Adpkd ok early, slowly progressive. ...Read more

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How do you typically diagnose polycystic kidney disease?

How do you typically diagnose polycystic kidney disease?

Ultrasound: You can take an imaging study called a renal ultrasound. The ultrasound can determine the number of cysts on your kidneys and can lead to a diagnose of polycystic kidney disease. ...Read more

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What are the symptoms associated with polycystic kidney disease?

What are the symptoms associated with polycystic kidney disease?

Pain: Typically pain in flank area both sides, blood in urine , hypertension, and over time progressive kidney failure. ...Read more

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What are some of the clinical findings of polycystic kidney disease?

What are some of the clinical findings of polycystic kidney disease?

Huge kidneys: Dominant or adult PKD often presents with huge kidneys with cysts. High blood pressure, pain in the kidneys, and strokes may also be issues. The kidneys lose function over time on blood tests. Recessive or infantile PKD presents earlier in life. Kidneys are huge but cysts often are not seen. High blood pressure and kidney problems can occur. Liver scarring can also lead to bleeding from the gut. ...Read more

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Might it happen that a man with polycystic kidney disease have children?

Might it happen that a man with polycystic kidney disease have children?

Usually!: Adult polycystic kidney disease (apkd) is one of the most common inherited disorders. Extra-renal manifestation of apkd is not uncommon. Cysts involving the male reproductive system have been reported. Among cysts involving the reproductive system, seminal vesicle cysts have been reported. Current literature reports that majority of men "remain fertile.". ...Read more

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Hi doctors, can you tell me what is polycystic kidney disease?

Inherited problem: Polycystic kidney disease is something you inherit from a parent. If you know you have it, you will want to learn as much as you can about monitoring and protecting your kidney function. You will also want to learn about the treatment of kidney failure. Many people with polycystic kidneys receive kidney transplants - which is probably the best of all options when kidneys aren't working. Lgromkomd. ...Read more

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What is the difference between multicystic kidneys and polycystic kidney disease?

What is the difference between multicystic kidneys and polycystic kidney disease?

Multi vs poly kidney: Multicystic kidney is usually a developmental anomaly of the kidney, usually unilateral and is due to the renal tissue not connecting to the developing urogenital tissue. Usually the kidney does not function, and presents during birth or early childhood. Polycystic kidneys are inherited and usually are functional but eventually will cause progressive renal failure depending on the severity. ...Read more

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Is there a name for someone that has multiple cysts on all organs and also has polycystic kidney disease ? And what is the outlook ? thankyou

Is there a name for someone that has multiple cysts on all organs and also has polycystic kidney disease ? And what is the outlook ? thankyou

Polycystic kidney: Polycystic kidney is a genetic disease, inherited as an autosomal dominant trait. The kidney dominates with multiple cysts and organ enlargement. Cysts appear in the liver, pancreas, and brain. Vascular aneurysms are present in about five percent of individuals. There is no special name for the affected person. Close medical care is essential. ...Read more

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How do you test for polycystic kidney disease?

How do you test for polycystic kidney disease?

Renal Ultrasound: Polycystic kidney disease is usually diagnosed by taking a renal ultrasound of your kidneys to determine the number of cysts that are on each kidney. Usually, a person presnts with bloody urine or multiple UTI that will lead to a doctor taking a patient of the kidneys and diagnosing the issue. ...Read more

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Is it ok to drink gatorade when u have polycystic kidney disease?

Is it ok to drink gatorade when u have polycystic kidney disease?

Depends: If you have PKD without any effects of chronic kidney disease i.e. difficulty balancing potassium (to the point where it gets high), then you should be fine. If you have had issues with your potassium levels being high, then I would recommend not drinking the sports drink. ...Read more

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Can I get a Tattoo if I have Polycystic kidney disease?

Can I get a Tattoo if I have Polycystic kidney disease?

Tattoo PCD: See no reason why not as the ttooist knows how to protect u from getting HIV, hepatitis etc. I would discuss with your team first as they know u best. ...Read more

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Polycystic kidney disease related to pcos?

Polycystic kidney disease related to pcos?

No: They are separate disorders. Polycystic kidney disease is an inherited disorder due to a specific genetic alteration. In pckd, a small number of patients get cysts in the liver as the only other organ affected. The cause of cysts in the ovaries is a completely different process and they are not related. However, both can occur in the same individual. ...Read more

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Polycystic kidney disease and kidney stones, are they related?

Polycystic kidney disease and kidney stones, are they related?

Kidney stones: No but they can occur together. Cysts in the kidneys are not necessarily polycystic kidneys which is an inherited familiar disease. ...Read more

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Is polycystic ovary syndrome related to polycystic kidney disease?

Is polycystic ovary syndrome related to polycystic kidney disease?

Totally unrelated: Apart from the word connection these are totally unrelated conditions. Having 1 does not lead to the other. Polycystic ovarian syndrome (pcos) is a complex disorder affecting the ovaries which may cause irregular cycles, fertility or metabolic problems. Polycystic kidney disease is genetic disorder and comes in two versions, both causing kidney problems, which may end in kidney failure / dialysis. ...Read more

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Help plz! Can polycystic kidney disease cause chronic renal failure?

Help plz! Can polycystic kidney disease cause chronic renal failure?

PKD: Polycystic kidney disease (PKD) can cause both chronic and kidney failure. PKD is a progressive disease that can lead to end stage renal disease in most instances and will lead to chronic in all patients. It is unfortunate that there is not cure for PKD and the overwhelming majority will wind up with end stage renal disease. ...Read more

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I had polycystic kidney disease for 2 yrs, can stem cell treat pkd, what to do?

I had polycystic kidney disease for 2 yrs, can stem cell treat pkd, what to do?

No stem cell for PKD: As far as I know, stem cell therapy has not been approved for PKD treatment. There are some clinical trials (but not stem cell) is underway. You should maintain healthy life styles, avoid/stop smoking, and avoid dehydration. Prevent & control of blood pressure & diabetes. Check kidney function & imaging (US or MRI) periodically as recommended by your doctor. ...Read more

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Is it dangerous to get pregnant and have a baby if you have polycystic kidney disease?

No but.........: Pregnancy is successful for most women with polycystic kidney disease. However, they may develop a life-threatening disorder called preeclampsia. Those most at risk are women who have high blood pressure before they become pregnant. ...Read more

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Does drinking a lot of water slow cyst development in polycystic kidney disease patients?

Does drinking a lot of water slow cyst development in polycystic kidney disease patients?

No: Nothing has been proven to slow cyst development. There are drugs undergoing trials; octreotide, Everolimus and tolvaptan all working on different systems that are promising. Adpkd patients are told to drink fluids to decrease the risk of stone formation and utis, the kidneys are very large urine collects in larger areas with slower flow making these complications more likely. ...Read more

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Does having polycystic kidney disease and using medicinal marijuana to alleviate pain, cause problems with the kidneys?

Does having polycystic kidney disease and using medicinal marijuana to alleviate pain, cause problems with the kidneys?

Polycystic kidneys: Pain is not usually assciated with polycystic kidneys, but if you are smoking pot for some other kind of pain, i dont feel it will contribute to your kidney problem, whiach can cause hypertension and renal failure. But you should me under medical care and if possible avoid smoking marijuan, as it has other harmful effects on the body. ...Read more

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Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


Kidney (Definition)

The kidneys are paired organs that lie on either side of the vertebral column. Part of their critical functions include the excretion of urine and removal of nitrogenous wastes products from the blood. They regulate acid-base, electrolyte, fluid balance and blood pressure. Through hormonal signals, the kidneys control the ...Read more