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You are here: Home / FAQs / Pregnancy & NDI

Pregnancy & NDI

You can learn more about the causes, diagnosis, and treatment of nephrogenic diabetes insipidus in Facts & Statistics.

Am I able to have children if I have NDI? If so, are they likely to get it as well?

Author: Bichet, Daniel G.

Assuming you are otherwise healthy, there is no reason having either acquired or inherited NDI can prevent you from having children. If you have acquired NDI, your children are not going to get NDI from you. If you have inherited NDI, then there is a statistical probability that some of your children will inherit NDI.

One form of inherited NDI is inherited in what is called an X-linked recessive pattern. This means that the mutated generesponsible for this form of NDI, the mutated vasopressin-2 receptor gene, is carried on the X chromosome. Females have two X chromosomes; males have one, which they inherit from their mother. So, if the mother carries a mutated X chromosome on one of her two X chromosomes, and her son inherits the mutated X chromosome, then he will expressthe symptoms of NDI. The reason the mother often does not express the complete symptoms of NDI is that she has another X chromosome with a healthy vasopressin-2 receptor gene that helps produce healthy vasopressin-2 receptors. This often masks the effect of the mutated vasopressin-2 receptor gene on her other X chromosome.

So, if the mother is an NDI carrier and the father does not have inherited NDI, they have a 1 in 4 chance of having an unaffected boy, a 1 in 4 chance of having a boy with NDI, a 1 in 4 chance of having an unaffected girl, and a 1 in 4 chance of having a girl who carries the mutated vasopressin-2 receptor gene on one of her X chromosomes.

The other known form of inherited NDI is caused by a mutation of the aquaporin-2 gene. This gene is carried on chromosome 12, which is an autosomal chromosome. This means that the gene is carried equally by both males and females. Normally, this form of NDI is inherited in an autosomal recessive pattern, which means that one of the two chromosome 12s carried by both the mother and the father must bear a mutated aquaporin-2 gene for their child to have a probability of being born with this form of NDI. Each of the children of the carrier mother and father stands a 1 in 4 chance of being born with NDI. And each of the children stand a 2 in 4 chance of being a NDI carrier.

X-linked NDI is rare, occurring in approximately 4 out of a million males. Autosomal recessive NDI is much more rare. And rarest of all is autosomal dominant NDI. In autosomal dominant NDI only one parent has to carry a mutatedaquaporin-2 gene for their children to have a probability of being born with NDI. Each of the children of this couple stands a 1 in 2 chance of inheriting the defective aquaporin-2 gene and being born with NDI.

If your family lineage has had any sort of history of inherited NDI, you may wish to have a mutational analysis performed to see if you carry either a mutated vasopressin-2 receptor gene (females) or a mutated aquaporin-2 gene (males and females).

Do you know of any link between diabetes insipidus and infertility? I have a friend who has been trying to get pregnant for many years and is now wondering if there isn't some link with the diabetes. I know that pregnancy involves numerous hormones, and since the diabetes insipidus involves the thyroid, I wasn't sure if maybe infertility has been a problem with anyone that you know of.

Author: Robertson, Gary

DI does not cause infertility or thyroid problems. However, all three disorders can have the same underlying cause, especially if the DI is of the pituitary or dipsogenic type. They are much less likely to have the same cause if the DI is of the nephrogenic type.

How do I know if I am a carrier of the NDI gene? Do I need genetic screening, and if so, how do I get that?

Author: Knoers, Nine

Examining your family history could reveal whether or not you carry an NDI causing gene. The most common form of inherited NDI is called X-linked NDI and is passed from mother to son. If that mother has a brother or a maternal uncle with NDI, then she can be sure that she is a carrier because her family history shows an X-linked inheritance pattern. However, there are many cases where a mother has a son with NDI, and there is no family history of this disorder. In this case the mother would need genetic screening to know whether or not she is a carrier. Doctors with extensive experience in screening for the NDI gene include Dr. Robert Wildin in the United States, Dr. Daniel Bichet in Canada, Dr. Nine Knoers in Nijmegen, The Netherlands.

If I know I am a NDI carrier, how can I prevent giving birth to a son with NDI?

Author: Knoers, Nine

If a woman is certain she is an NDI carrier, then, unfortunately, the only certain way of not passing on the NDI gene is to not have children. If a woman is certain she is an NDI carrier and she is pregnant, she can have a prenatal diagnosis to determine if her unborn child is carrying the NDI gene. It is also suggested that the mother seek family counseling to help her prepare for a child born with NDI.

If one has NDI normally, can pregnancy change severity of NDI, and if so, will it return to previous level after pregnancy?

Author: Robertson, Gary

Yes, pregnancy can worsen NDI in many patients. If it does, the NDI almost always returns to basal levels several weeks after delivery.

The Nephrogenic Diabetes Insipidus Foundation (NDIF) is dedicated to informing and helping the NDI community. The authors of the information archived on the NDIF website, and the archivists, cannot be held responsible for any damage which may result from using the information on this site without concurrence of your medical doctor. Consult your personal physician for your individual medical needs.

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