file.newsgroup.med.58100 Maven / Gradle / Ivy
From: [email protected] (Ken Mitchum)
Subject: Re: Immotile Cilia Syndrome
In article <[email protected]> [email protected] (Andrea M Free-Kwiatkowski) writes:
>I would like to know if there is any new information out there about the
>subject or any new studies being conducted. I am confident in my
>pediatrician and her communication with the people in Chapel Hill, but
>since this is a life-long disorder and genetically transferred I would
>like keep current. I do realize that since this is a relatively new
>disorder (first documented in 1974 in a fertility clinic in Scandanavia)
>and is therefore "controversial".
I do not know a lot about this, except from seeing one patient with
"Kartagener's syndrome", which is a form of immotile cilia syndrome
in which there is situs inversus, bronchiectasis, and chronic
infections. "Situs inversus" means that organs are on the wrong
side of the body, and can be complete or partial. It is interesting
medically because the normal location of organs is caused in part
by the "normal" rotation associated with ciliary motion, so that in
absence of this, laterality can be "random." People with situs
inversus are quite popular at medical schools, because of their
rarity, and the fact that most doctors get a bit upset when they
can't find the patient's heart sounds (because they're on the wrong
side).
According to Harrison's, immotile cilia syndrom is an autosomal
recessive, which should imply that on average one child in four
in a family would be affected. But there may be much more current
information on this, and as usual in medicine, we may be talking
about more than one conditiion. I would suggest that you ask your
pediatrician about contacting a medical geneticics specialist, of
which there is probably one at NCSU.
-km