On December 14, 2023, the fourth meeting of the student scientific circle was held at the Department of propaedeutics of children diseases this academic year. The meeting was attended by assistants of the department Rakhimbayeva S. Zh., Koishybayeva K. Zh., Abayeva K. D. and the head of the SSC Shakirova A.A., as well as students of the 4318th group of the 4th year of the specialty “General medicine”. The report on the topic “General information about hypophosphatasia” was presented by the student of the 4318th group Toleubek Zhalgas.
He said that hypophosphatasia (GF) is a rare genetic systemic disease caused by mutations in the gene encoding tissue–specific alkaline phosphatase (TSAPh), which leads to a deficiency of this enzyme and a violation of bone mineralization. The childhood form is transmitted predominantly to the autosomal recessive type, while the adult form can be inherited as an autosomal recessive or autosomal dominant type. Autosomal recessive inheritance is associated with a more severe course of GF. Severe GF occurs in about 3.3 out of 1 million newborns-that is, it is a very rare pathology.
In his report, Zhalgas also described the features of the main clinical types of hypophosphatasia, noting that there are four types of clinical course: perinatal, infant, juvenile and adult. He also described the main clinical manifestations and diagnosis of each type of hypophosphatasia.
Zhalgas’ presentation was well received by the students, who appreciated the interesting and unusual pathology.
The authors would like to thank all the participants of the meeting for their interest in the scientific event!