This is Kartagener’s syndrome

On May 15, Eduardo went for a medical examination. At 42 years old, he has always tried to lead a healthy lifestyle, and in general he has succeeded, with the exception of a cold that completely went away after a couple of months. He doesn’t drink except on very rare occasions, doesn’t smoke, and plays sports. Despite all his activity, in the last few months he feels that sometimes he’s out of breath and they give him coughing fits. He believes this may be because his work situation has worsened. He becomes increasingly stressed, and unfinished tasks accumulate, taking away the time he previously devoted to leisure. One day, after several sleepless nights and severe headaches, it burst. While walking, he stopped and put his hands on his head. I felt it stabbing pain will make him lose consciousness in the middle of the street.

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Fortunately, he managed to recover, and at that moment he decided to get rid of his fears and make an appointment with a doctor. After weeks of waiting with no more outbreaks, she finally arrived at the office and after a series of questions the doctor He took the stethoscope and placed it over his heart, on the left side of his chest.. Suddenly he made a strange face and He changed it to the right side. After going out to check her medical history, the doctor offered her a diagnosis that turned her world upside down. Or rather, I would change it from left to right. The doctor suspected that Eduardo had Kartagener syndrome. All his organs were inverted.

His heart was on the right, his liver on the left, and he He lived half his life without knowing it.

Although this story is a collection of different situations and patients in an imaginary scenario, Kartagener’s syndrome This is a very rare disease that affects approximately 1 in every 15,000 live births. In addition to recurrent lung infections and episodes of sinusitis, patients experience a condition known as reverse position, which means the organs are on the opposite side of where they should be. This peculiar symptom is the result of a change occurring during the development of the embryo, which does not allow it to differentiate between left and right. Without a guidewire, the likelihood of all organs being on the opposite side for a person with Kartagener syndrome is almost the same as if a coin lands on heads or tails.

Distinguishing between left and right

One of the first concepts we learn as children is distinguish between left and right. Knowing directions helps us navigate this increasingly chaotic world. However, distinguishing left from right is not always easy, especially in stressful situations. A striking example is driving tests, in which many future novice drivers carry some kind of mark or sign with them, which can be guided by, so as not to make mistakes in the direction indicated by the instructor.

But long before finding themselves in such a situation, those future drivers already had to distinguish between left and right in a situation that was decisive for their future. While they were developing in the womb, his cells had to organize create all the tissues and organs and place each of them in a specific position. For these cells, an inconspicuous bracelet or watch is useless, no, At the embryonic stage, distinguishing directions is somewhat more difficult..

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When will we stop being symmetrical?

Violation of symmetry in the human body occurs in third week after fertilization. Up to this point, embryos are nothing more than a small amorphous mass of cells less than a millimeter in size. But starting from the third week, a change occurs in embryonic development: a teardrop-shaped embryonic structure appears, called primary node

. This structure is covered with special cells called nodal ciliated cells, which contain so-called “cilia”. Under a microscope, eyelashes are real. filigree formed by more than 600 proteins which come out of the cell like little hairs. Although they have a unique feature: the cell is able to move them randomly.

At the node, the movement of these cilia is rotational, as if it were a small propeller. Thanks to this type of movement, they can move fluid within the nodal structure, which creates current flowing from right to left. Although the molecular mechanisms are not entirely clear, the cells on the left are able to detect this current and activate a gene called LEFT-HANDED1which determines the difference between left and right.

New image of the human embryo

A case of Kartagener’s syndrome

Therefore, cilia are necessary for the difference between left and right to occur. Now the complexity of its structures is precisely its Achilles heel. There are more than 60 genes in which mutations can occur which affect the proper functioning of eyelashes. When these mutations occur, cilia cannot move fluid efficiently as usual. Therefore, within the node, neither the left nor the right knows whether to activate the LEFTY1 gene, and this activation occurs randomly, which can lead to Kartagener syndrome, in which the organs (some or all) are inverted.

Although reverse position and the organs are in their normal position, Ciliary mutations have other symptoms. Eduardo, our fictional character, also suffered from sinusitis and recurrent infections, two conditions that many patients with this type of ciliopathies have to deal with. It’s because cilia are also present in other parts of the body. For example, in the respiratory system and sinuses, cilia act as a conveyor belt that moves mucus from the lungs and sinuses for elimination.

If the cilia do not move, all inhaled particles, including bacteria and viruses, will remain in the mucus, where they can divide uncontrollably. Therefore, many patients recurrent infectionsespecially during childhood, it is advisable that they learn respiratory physiotherapy techniques that will help the body remove mucus.

Currently, this disease is underdiagnosed. Like our imaginary Eduardo, There are cases that are not detected until adulthood.

Either because they did not have respiratory infections as children, or because parents believe that it is “normal” for children to get sick. Therefore, when they reach adulthood and undergo a medical examination, they may be in for a surprise.

However, not everything is usually as simple as with Eduardo. In most cases, the diagnosis is Kartagener’s Syndromealso called primary ciliary dyskinesia with reverse position, may take years. During these years, patients and their families move from specialist to specialist, with great uncertaintywhich places a great psychological burden on them, which disappears, at least partially, only when the doctor manages to detect the syndrome that accompanies them throughout their lives.

This is why raising awareness of rare diseases is important, as they are present in a much larger proportion of the population than may at first appear. Fortunately, thanks to the efforts of research institutions and patient associations Accompanying newly diagnosed diseases, in recent years both patients and accompanying family members have noted an improvement in the quality of life.