By Cristina Mestre Ferrer BSc, MSc (embryologist).
Last Update: 11/04/2014

This disease receives different names: ciliary dyskinesia syndrome, Primary Ciliary Dyskinesia (PCD), Kartagener’s disease… However, it is mostly known as Kartagener syndrome (KS). It’s a genetic disease in which some cellular elements, such as cilia and flagella, don’t function properly.

Human epithelium with cilia

The patients that have to endure it are born with it, its origin is genetic and is inherited as an autosomal recessive disease. It’s rare amongst population, only one in every 20,000 people suffer from this syndrome.

This illness provokes an improper functioning of cilia and flagella that affects several areas of the organism where these can be found. This genetic disorder provokes a dysfunction in the epithelia or cells that have this structure. It specially affects the respiratory tract.

Symptoms

There’s a wide range of symptoms. Nonetheless, the most common are: respiratory symptoms, sinusitis, and otitis.

When a baby is born with this disorder, he suffers from lung infections since the second day after delivery, as well as having a runny nose. He also presents these symptoms during his early years of life and they may be severe or mild. The symptoms worsen as he grows and reaches adulthood: saccular bonchiectasis is common, as well as chronic cough with sputum expectoration and polyps in the nose. They have problems in breathing, as if they had to endure asthma, and it’s common to hear crackling sounds during auscultations. During adulthood other areas of the organism are also affected, such as kidneys or central nervous system. Men and women also manifest fertility problems.

Diagnosis Primary Ciliary Dyskinesia

If these symptoms are observed and the suspicion of Kartagener syndrome arises, epithelial cells located in the nose and cells of the bronchus are examined. Several microscopic cuts are carried out to study the ultrastructure of the cilia. If they present anomalies, the Primary Ciliary Dyskinesia is confirmed.

Female infertility

More than 50% of women with Kartanger syndrome have fertility problems. They have a normal ovarian cycle, but the eggs are not able to move along the Fallopian tubes. Fallopian tubes are coated with cilia that help the displacement of the egg towards the ampulla of the uterine tube, where the fertilisation will take place. Once the egg has been fertilised, the embryo displaces until it reaches the uterus, where it finally implants. There aren’t many possibilities for the fertilisation to take place in women suffering from this disease, and there’s a high number of ectopic pregnancies among these women, since the embryo cannot reach the uterus due to the dysfunction of the cilia.

Female sterility due to Primary Ciliary Dyskinesia

This problem could be solved through in vitro fertilisation. The eggs are extracted through follicle puncture and fertilised by the sperm in the laboratory. Subsequently, the embryo is transferred directly to the uterus.

Male infertility

The problem that male with this disorder present is known as astenozoospermia or astenospermia. Most of their sperms are motionless, which means they cannot achieve pregnancy on their own. These sperms are alive, even if they don’t move, and are capable of fertilising the egg. The problem lies in the fact that they cannot reach the egg due to disorders in their flagellum (sperm’s tail). These men can have children through ICSI. The same process as with IVF is followed, with the exception that the specialist selects the sperms and introduces them inside the oocyte through a microinjection.

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Authors and contributors

 Cristina Mestre Ferrer
BSc, MSc
Embryologist
Bachelor's Degree in Biological Sciences, Genetics & Human Reproduction from the University of Valencia (UV). Master's Degree in Biotechnology of Human Assisted Reproduction from the UV and the Valencian Infertility Institute (IVI). Embryologist at IVI Barcelona. More information
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