HU Faculty of Medicine, Department of Pediatric Nephrology, Lecturer Prof. DR. In his statement to the AA correspondent on the matter, Fatih Özaltın stated that the scientific study, which began in 2021, was carried out in collaboration with Cerrahpaşa Faculty of Medicine- Faculty of Istanbul University, Department of Pediatric Nephrology, and the Technical University of Munich.
Özaltın said that in the study, two younger siblings who were diagnosed with congenital anomaly of the urinary system (USCA) causing chronic kidney failure were examined at Cerrahpaşa Medical Faculty and that the children were born as a result of consanguineous marriage and that These genetic factors in the family were examined.
Stating that the genetic studies of the research supported under the “Research on New Genes in Hereditary Rare Kidney Diseases” project were carried out in Hacettepe, Özaltın said, “As a result of our scientific study, we have reached the gene we have.” Call FOXD2 . “We have begun further research into how mutation of this gene causes USKA anomaly,” he said.
“Gene regulates an important phase in the kidney development of babies”
Prof. DR. Özaltın explained that within this framework an international collaboration was established and another patient family with a mutation in the same gene was identified, followed by the Technical University of Munich and said:
“As a result of our collaboration and study, we discovered that the gene we call FOXD2 plays a very crucial role in the development of the urinary system, which includes the urinary tract and the kidney, and regulates an important stage in development.” the kidney in babies in the womb. We have also shown this with some animal experiments. In animals whose FOXD2 gene was switched off. “We found that it causes kidney problems similar to those in humans.”
“It was revealed for the first time in the world”
Emphasizing that a very comprehensive and detailed study was carried out and the preliminary results were published, Özaltın pointed out that experts from Israel also informed them that they had patients in a similar situation.
Prof. DR. Fatih Özaltın continued as follows:
“We have identified three different families and three different mutations in the same gene for a very rare disease in the world. This was one of the key findings that proved that the disorder in the FOXD2 gene will be responsible for the USKA anomaly. Defects in the FOXD2 gene, whose name was previously known but which diseases it caused were not known, is called the USKA anomaly. “This study was published for the first time in the world. Our study, presented to the literature, was published in Kidney International, one of the most prestigious journals in the field of nephrology.”
“It is a very important congenital health problem”
Sharing information about USKA, Özaltın said: “This anomaly is the most important cause of end-stage renal failure requiring dialysis and transplantation in children. It is a very important congenital health problem that occurs as a result of developmental problems related to the kidney and the uterus,” he said.
Stating that there are many disease groups underlying USKA, Prof. DR. Özaltın said: “Families with the FOXD2 gene mutation we identified were able to survive for a long time with relatively preserved kidney functions, but now they are already suffering from kidney failure.” In some severe forms of the “Ill health, babies need dialysis from the day they are born.” “The need is there,” he said.
Özaltın emphasized that the study is important to elucidate the underlying mechanisms of the disease and develop appropriate treatments.
“The most important risk factor is blood marriages”
Pointing out the genetic aspect of USKA, Özaltın said: “The most important risk factor of the anomaly is consanguineous marriages. This applies not only to this disease, but to all rare diseases. To reduce the burden of rare diseases, it is very important to inform families and avoid consanguineous marriages,” he said.
Özaltın explained that in severe cases, USKA can be detected in the early stages of pregnancy and that it is important to start treatment early in children.
“We have introduced the 9th gene into the medical literature”
Prof. DR. Fatih Özaltın emphasized that the work was exciting and gave the following evaluations:
“This gene is the 9th gene identified in our laboratory and included in the medical literature. These are good processes that we are proud of on behalf of our university and our country. It is also very important to show this again.” Scientific studies can be carried out in our country and it has this potential. I am sure that every study in Turkey “Innovative developments and inventions are possible in this field.” We have an educated audience and a young and dynamic generation. That’s it. It’s important to offer these courses more opportunities and support them with projects.”
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