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Avoiding ARPKD in future siblings ?

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I have a 7-year old son with ARPKD, kidney transplanted and in brilliant shape =)
He has a 9-year old sister who seems not to have the same disease - though it has not been genetically tested and completely ruled out, but they have performed kidney ultrasound and she shows no signs of ill health. I have 2 Q's:
1. Do you think I should ask the doctors for a definite test on my daughter?
2. If me and my husband would like to try to have another child, can we avoid having another child with ARPKD? Is IVF a method to use?

Very grateful for your advice on this.
Best regards,
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replied July 31st, 2017
wELCOME to e health forum.

Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.

The two major forms of polycystic kidney disease - autosomal dominant and autosomal recessive are distinguished by the usual age of onset and the pattern in which it is passed through families.

Mutations in either the PKD1 or PKD2 gene can cause autosomal dominant polycystic kidney disease.

PKD1 gene mutations cause ADPKD type 1, and PKD2 gene mutations cause ADPKD type 2.
People with this condition are born with one mutated copy of the PKD1 or PKD2 gene in each cell.
Although one altered copy of a gene in each cell is sufficient to cause the disorder, an additional mutation in the second copy of the PKD1 or PKD2 gene may make cysts grow faster and increase the severity of the disease.

Mutations in the PKHD1 gene cause autosomal recessive polycystic kidney disease.

The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood.

The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer , presents with symptoms at birth or early infancy and is often lethal early in life. People with this form of the condition have two altered copies of the PKHD1 gene in each cell. The parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.

In the case described, it is more likely that you and your husband are carriers of the defective ARPKD gene. In such situations, risk of children being affected with the disease is 50% , another 25% of the progeny can be silent carriers of the defective gene while the rest 25% of the progeny would have a normal genes (clinically normal infants).

Hence as explained above, there is only 25% chance that you may have a clinically normal child.

Antenatal counselling is available in specialised centres and is typically offered for cases like yours (when a couple already has a child with the disease). One option available for you would be Pre-implantation genetic diagnosis (PGD), which involves genetically testing embryos that are created through in vitro fertilisation (IVF) for the mutated gene. Only embryos that do not have the mutated gene are implanted into the mother, guaranteeing that a child born from that cycle of IVF will not have ARPKD.

You might consult your OB-GYN doctor who can provide necessary information for you.

I hope this helps.

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