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Doctor insights on: Common Autosomal Recessive Disorder

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Is a child with a autosomal recessive disease for sure going to be bad off?

Is a child with a autosomal recessive disease for sure going to be bad off?

Depends on the dz: This all depends on which disease the child has. Some autosomal recessive diseases can be relatively innocuous (e.g., mcardle's syndrome), whereas others can be quite serious (e.g., cystic fibrosis). The classification of "autosomal recessive" describes how the disease is inherited; it does not define the characteristics of the disease itself. ...Read more

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Can you tell me how I could tell whether certain disorders are autosomal recessive, autosomal dominant, or x-linked?

Confusing question: If you are aware of the name of the disorder you can look it up.The NIH website has many such listings. Geneticists begin the process by compiling family trees of affected persons and sorting the issue out over time. ...Read more

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Is autosomal recessive polycystic kidney disease very serious?

Is autosomal recessive polycystic kidney disease very serious?

It is different: It usually is more serious than the autosomal dominant disease since it needs inheritance from both parents to be expressed i.e. Both genes are affected. It accordingly gets expressed at an earlier age in life. The longer duration of polycystic disease is a factor in predicting dialysis need. ...Read more

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Is there a difference between autosomal dominant and autosomal recessive polycystic kidney disease?

Is there a difference between autosomal dominant and autosomal recessive polycystic kidney disease?

Yes: The dominant form occurs mostly in adults. It is inherited but it takes time to show up as a diagnosable disease in middle to later age. Depending on your luck you either have it from your parent or not( 50% chance).The recessive form could be carried by seemingly healthy persons and when manifests as a disease in the offspring, it shows up at a much earlier age. ...Read more

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What are the differences between autosomal dominant and autosomal recessive polycystic kidney disease?

What are the differences between autosomal dominant and autosomal recessive polycystic kidney disease?

Differences: Main differences are---ADPKD shows itself in adults and 1/3 stays silent, 1/3 cause complications like hypertension etc, and 1/3 progress to end stage renal disease. ARPKD --- on the other hand manifests itself in pediatric population, in fact soon after birth, almost always involves kidneys bilaterally and requires dialysis for survival. Good news-- ADPKD is dominant therefore never skips generat ...Read more

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Please help! what is the difference between autosomal dominant and autosomal recessive polycystic kidney disease?

Please help! what is the difference between autosomal dominant and autosomal recessive polycystic kidney disease?

Genes: There are caused by different loci. The recessive form generally causes illness from the time of birth due to the large, ineffective kidneys. The dominant form sneaks up on a person during adult life. The affected kidneys look different in the two diseases. ...Read more

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I have calcium oxalate stones in my two kidneys and I have pkd, autosomal recessive kidney disease, please advice what type of food I should eat!

I have calcium oxalate stones in my two kidneys and I have pkd, autosomal recessive kidney disease, please advice what type of food I should eat!

Oxalate stones: Studies show high intake of lemon citrate is essential. high intake of magnesium and potassium is essential. Low intake of salt and animal protein is essential. Take 5 teaspoons of ReaLemon extract per day. Eat tropical fruits such as mango, melons, kiwi, tomato. Drink 3-4 quarts fluid per day. Avoid caffeine. ...Read more

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