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nephronophthisis
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nephronophthisis

Good evening
My brother was diagnosed with nephronophthisis 4 years ago, he was on dialysis for 3 years before my dad ended up donating his kidney to him. Last month my mum was also diagnosed with nephronophthisis they both have the same one and there is know cure. My mum is being treated by chemo and drugs. I understand that there is not much known about this disease but i have two children and need to know if it is hereditary? Any information about it would be greatly appreciated.  
Avatar_dr_f_tn
Hello and hope you are doing well.

Nephronophthisis is a genetic disorder of the kidneys. The disorder is inherited as an autosomal recessive trait. Autosomal recessive means both the parents have to have this gene to transmit it to the children.
Lets take the recessive gene as -.

                      Your Parents
                       + - , + -

                       Children can be
                       ++ ,   + - ,  + - ,   - -
                       25%   25%  25%   25%

So, there is a 25% chance of their children having this disorder. So, you may be carrying the trait, if your partner too has the same trait, then there is a 25% chance of your children having this disorder.

Hope this helped and do keep us posted.
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