Autosomal Recessive Polycystic Kidney Disease?
My 1 month old daughter has it. They thought she had polycystic kidney disease alone inherited from me and her kidneys were enlarged. She had surgery last week and got one kidney removed which is when they found that shes more likely to have autosomal recessive polycystic kidney disease. can anyone tell me what this is and whats likely to happen to my baby??
A diagnosis like this must be quite a shock. This disease usually reduces life expectancy, but the nature and severity of effects from this disease vary. The docs will be able to give you an assessment of her prognosis once they perform a few more tests.
The primary risk from this disease is eventual kidney failure, which could occur in adolescence or early adulthood. Sometimes there are also problems with the liver. Most likely, even under the worst-case scenario, she will probably have a mostly normal childhood at least through her grade school years. Once kidney problems progress, dialysis will probably be needed.
A kidney transplant could possibly be an option once the disease advances, and after a transplant, if it is successful, people lead normal lives. (+ info
is it possible to develop autosomal recessive polycystic kidney disease at 14-16 y/o?
my friend was wondering. i mean like, not develop but just start getting symptoms of it then and if u can what is the chances of survival and what kind of treatment is there?
Yes it is possible. PKD runs in my family. All 4 of my Uncles, my Aunt, 7 cousins and my brother have it. My Mom also had it and she died a year ago from complications of dialysis. I am 25 and have been tested and luckily I do not show signs as of yet.
There is no cure for this disease but there are treatment options. When end stage renal disease occurs your options are dialysis or transplantation. You can live a long life with this disease. My Mom was diagnosed in her early twenties, her kidneys did not go into renal failure until her early forties and then she lived until 56. My Uncles are in their 60's and 70's.
If your friend is worried about getting this disease then I would strongly encourage him/her to go to their doctor. Their doctor should be able to set up a consultation with a nephrologist to answer any questions. (+ info
How likely is it that I have polycystic kidney disease (autosomal dominant)?
I would like to know how likely it is that I have autosomal dominant polycystic kidney disease (ADPKD). My mother had it, two of her three brothers have it, her father had it, and his mother had it. I understand that the disease is dominant, which means that my mother carries one dominant gene (the disease) and one recessive gene (normal), and my father carries two recessive. I'm pretty sure that means that I have a 50% chance of having the disease.
I'm almost 16 years old and I'm in good health. I have lower than normal blood pressure, I run several miles a day and I play sports with no problem, I've never had kidney pain or urinary tract infections, and I've never physically felt any cysts. My parents think it isn't a good idea to get an ultrasound just yet because they think I'm too young for it to be detected, but I just really want to know if there's some other way to tell if I might have it, like other symptoms maybe. I know that you might say it's better to not know until it will affect me, but it's been like a raincloud hanging over my head. Thanks guys, this is important to me.
What is a polycystic kidney disease?
Is a polycystic kidney disease:
a). an autosomal dominant trait
b). an autosomal recessive trait
c). an X-linked recessive trait
d). a chromosomal error
e). a multifactorial trait (polygenic disorder)
Thanks for any help!
Chromosomal errors may take several types:
a). a particular missing chromosome
b). an extra chromosome
c). damaged chromosome
There is one type of polycystic kidney disease that is autosomal dominant: Autosomal Dominant Polycystic Kidney Disease (ADPKD) (+ info
How is Polycystic Kidney Disease inherited?
and is it a dominant trait, a recessive trait, or incomplete dominence?
ADPKD: Because PKD is an inherited disorder, the dominant form of the disease (ADPKD) is passed from one generation to the next by an affected parent. An ADPKD parent has a 50% chance of passing the PKD mutation to each of his/her children at conception - having a child who inherits ADPKD with each pregnancy, no matter how many children a person has. In some families, all the children are affected; in other families, none are. Many families with multiple children will have affected and unaffected children. Although most individuals with ADPKD have a family history, scientists have also discovered that approximately 10-20 percent of the PKD patient community became affected through spontaneous mutation.
Two genes that cause ADPKD have been identified. About 85% of people with ADPKD have mutations in the PKD1 gene, located on chromosome 16. The remaining 15% of individuals have mutations in the PKD2 gene located on chromosome 4. There are no other PKD genes that have been identified to date.
The disease caused by ADPKD1 is more severe than that caused by ADPKD2. Individuals with mutations in the PKD1 gene develop cysts, hypertension and loss of kidney function at an earlier age compared to the ADPKD2 gene.
ARPKD: This recessive disease requires a mutated gene from each parent for the disease to manifest in a child, who has, then, 2 mutated genes. In most cases, there is no family history of the disease, and the parents do not have the disease themselves but are carriers. (+ info
What are the inheritance patterns for polycystic kidney inheritance?
Two of my mother's brothers have polycystic kidneys, so I was wondering, is there any chance that I could have the kidney disorder too? Like it could have passed by my mom but I might have it? Just wondering, thanks. :)
Either or both parents can carry the gene. Carriers don't necessarily have it but can pass it on. If both parents have it, you are more likely to have PCKD. (+ info
If two carriers for a certain autosomal recessive condition have a child, what is the probability that they wi
If two carriers for a certain autosomal recessive condition have a child, what is the probability that they will have a child with the disease?
Let X be the number of recessive genes the child gets. X has the binomial distribution with n = 2 trials and success probability p = 0.5
In general, if X has the binomial distribution with n trials and a success probability of p then
P[X = x] = n!/(x!(n-x)!) * p^x * (1-p)^(n-x)
for values of x = 0, 1, 2, ..., n
P[X = x] = 0 for any other value of x.
The probability mass function is derived by looking at the number of combination of x objects chosen from n objects and then a total of x success and n - x failures.
Or, in other words, the binomial is the sum of n independent and identically distributed Bernoulli trials.
X ~ Binomial( n = 2 , p = 0.5 )
the mean of the binomial distribution is n * p = 1
the variance of the binomial distribution is n * p * (1 - p) = 0.5
the standard deviation is the square root of the variance = √ ( n * p * (1 - p)) = 0.7071068
The Probability Mass Function, PMF,
f(X) = P(X = x) is:
P( X = 0 ) = 0.25 <<< non carrier
P( X = 1 ) = 0.5 <<<< carrier
P( X = 2 ) = 0.25 <<<< has the condition (+ info
Does anyone else have a baby with polycystic kidney disease? If so how is the baby doing?
I am 7 months pregnant with my fist child and I have recently found out that my little girl has polycystic kidney diesase, the doc told me there is a possibility she could be fine and there is a possibility she couldn't be. I was wondering if anyone else has had and experience with this also?
my friends son had it, she found out at her 20 weeks scan, her son lived for 10 days, i am really sorry to hear your child has this, my friends son was born in 1997 so i'm sure that a lot more is known about the condition now and my prayers are with you (+ info
I have polycystic kidney disease, when will i need a transplant by if i was diagnosed at 10 and now am 18?
Hi i am a 18 year old female with polycystic kidney disease ! i was wondering if anyone knew about this disease and what could happen to someone with it? would i need a transplant in the near future if i was diagnosed at 10 ?
I'm 17 and was diagnosed when I was nine.
Live about your life like you usually would, but there are a few things you need to watch out for.
Avoid things that involve jumping around, for example, I used to do trampoline gymnastics and horse back riding, I had to stop because the up and down motions make the cysts grow.
Salty foods. avoid those.
And just remember to keep a good diet, be healthy. And if you were given any medication from your doctor, then TAKE IT. I had blood pressure problems too so they gave me a pill to take, and I really don't like taking pills, so i didn't take it. But apparently I just found out that if I DO take the pill it ll elongate the life of my kidneys. pretty much I'm keeping myself alive longer if i take it.
Don't worry about transplants unless your kidneys are really bad and are full of cysts. Just keep it monitored. ex: i go to the hospital every 6 months for ultrasounds on my kidneys to check the cysts, and see if they grew/or there are any new ones.
hope this helped :) peace and love!! (+ info
How can I find out if I have PKD(polycystic kidney disease) without the expensive genetic testing?
For about 11 years I've had a cyst in my right kidney causing it to enlarge and a liver cyst that was once drained during my gallbladder removal a few years ago.The liver cyst has filled again and my kidney cyst causes severe pain daily.Over the years,I've had ct scans,mri's and sonograms to keep track of how large my kidney has grown.2 out of 3 doctor's(including a nephrologist from the Kidney foundation)suggests I have PKD and has told me that I now need to undergo genetic testing to verify this.I have no health insurance and there is only one income in my household.Due to the daily pain,I am so limited to activities that I can do with my two children.We are so stressed that we cannot get an answer from these "specialist" and can no longer afford any more testing or ER visits.I feel like I am alone.How can i get a diagnosis when i can not afford the testing?I've been to the"sliding scale fee" clinics(they say my husband makes too much money but fail to realise we pay bills with it).
Currently there is no cure for PKD, not with conventional medicine or (despite what you have been told) alternative medicine.
Ultrasound (sonogram) is usually used to diagnose this especially when the cysts are active. Genetic testing confirms the diagnosis. CTs & MRIs can be used but are not ususally required. The extra imaging you have had may have been redundant and unneccessary. For now, get a hold of all your films, reports and labs -- you will need them. The main concern at this time is to prevent or control pain, high blood pressure and UTIs and well as find help.
You may want to contact the Kidney Foundation and see what they suggest. Call to get an 800 number and check their website. They may have programs for someone in your situation, programs that will give you immediate help.
My hope is that you can avoid ESRD (end-stage renal disease), kidney failure and transplant.
I'm not certain if you are eligible for Disability or Supplemental Security Income benefits through the Social Security Administration but it's something to investigate. You would need the medical information I suggested you acquire and any written physician statements you can get concerning the probable diagnosis. If I am able to find additional help for you, a grant perhaps, I will contact you if I'm able.
God bless you and your family. You're in a very frustrating position but I'm sure there are others who will try to help. You're not alone! (+ info
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