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What Are The Adverse Effects Of Having Infantile Polycystic Kidney Disease Gene Mutation?
Hi there ,I had a baby that died 2 weeks after my partner gave birth ,I am a male of 32 ,my daughter had cysts on her kidneys ,I ve received a letter saying that I am a carrier of ,infantile polycistic kidney disease gene mutation . Does this mean that I have cysts on my kidneys or have I got kidney disease as I m confused about what this means ,the letter was sent from America after tests were done ,it says that I am a carrier of an Infantile polycistic kidney disease gene mutation ,I woul be very grateful if you could help me understand what this means please .
Mon, 8 Jun 2015
Hello and welcome to HCM,
Carrier of polycystic kidney disease gene mutation may / may not have cysts of kidney or other organs.
Since, you are a carrier, you have passed on the mutation to your children.
Your daughter has cysts in kidney implying that she is also carrying the same mutation.
A genetic study may be performed to know the type of mutation since there are a variety of mutations which can cause cysts in kidney.
Is the cause of your second baby loss known?
Was it due to kidney disorder ? polycystic kidney disease?
The severity and course of the disease depends on the kind of polycystic disease autosomal dominant ? autosomal recessive ??
Keep your daughter on regular follow up to monitor her renal function tests.
Thanks and take care
Dr Shailja Puri
Carrier of polycystic kidney disease gene mutation may / may not have cysts of kidney or other organs.
Since, you are a carrier, you have passed on the mutation to your children.
Your daughter has cysts in kidney implying that she is also carrying the same mutation.
A genetic study may be performed to know the type of mutation since there are a variety of mutations which can cause cysts in kidney.
Is the cause of your second baby loss known?
Was it due to kidney disorder ? polycystic kidney disease?
The severity and course of the disease depends on the kind of polycystic disease autosomal dominant ? autosomal recessive ??
Keep your daughter on regular follow up to monitor her renal function tests.
Thanks and take care
Dr Shailja Puri
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