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RESEARCH PAPER
Frequency of polymorphic loci of GSTM1 and GSTT1 modifier genes in the genotype of children with pyelonephritis and congenital urinary malformations
1
Department of Clinical Genetics, Institute of Hereditary Pathology of the National Academy of Medical Sciences of Ukraine, Lviv, Ukraine
2
Department of Propaedeutics of Pediatrics and Medical Genetics, Danylo Halytsky Lviv National Medical University, Lviv, Ukraine
3
College of Medicine, Ajman University; Center of Medical and Bio-allied Health Sciences Research, Ajman University, Ajman, United Arab Emirates
4
Department of Bioorganic and Biological Chemistry and Clinical Biochemistry, Bucovinian State Medical University, Chernivtsi, Ukraine
5
Department of Fundamental Disciplines with a Course of Traditional and Non-traditional Medicine, Dnipro Medical Institute of Traditional and Non-traditional Medicine, Dnipro, Ukraine
Submission date: 2022-01-14
Final revision date: 2022-04-14
Acceptance date: 2022-04-15
Online publication date: 2022-09-20
Corresponding author
Nataliia Lukyanenko
Department of Clinical Genetics, Institute of Hereditary Pathology of the National Academy of Medical Sciences of Ukraine, 79008, 31a M. Lysenko Str., Lviv, Ukraine.
Department of Clinical Genetics, Institute of Hereditary Pathology of the National Academy of Medical Sciences of Ukraine, 79008, 31a M. Lysenko Str., Lviv, Ukraine.
Pol. Ann. Med. 2023;30(1):9–14
KEYWORDS
TOPICS
ABSTRACT
Introduction:
The growing number, prevalence, numerous complications, and deaths in patients with congenital anomalies of the kidney and urinary tract (CAKUT) indicate the high relevance of the declared topic. Currently, clinical medicine is actively engaged in research on the cellular and molecular mechanisms that cause the appearance of these diseases.
Aim:
The aim of the work is to study genetic markers of CAKUT and the tendency to a more severe course of pyelonephritis in young children.
Material and methods:
Using the multiplex polymerase chain reaction method, 50 children with pyelonephritis were examined for the presence of deletion alleles of the glutathione S-transferase mu 1 (GSTM1) and glutathione S-transferase theta 1 (GSTT1) genes.
Results and discussion:
As a result, 35 children were diagnosed with certain CAKUT. A statistically significant associative relationship between the development of pyelonephritis in a child and the presence of a null allele GSTM1 0/0 in its genotype and a high probability of CAKUT with quantitative and positional anomalies and impaired formation and differentiation of renal tissue in carriers of null alleles GSTT1 0/0, GSTM1 0/0 in their combination was revealed.
Conclusions:
The fact that different forms of abnormalities are detected in members of the same family suggests that certain genetic mutations can potentially lead to CAKUT syndrome, but the final phenotype of the renal system depends either on the genetic background or on environmental factors.
The growing number, prevalence, numerous complications, and deaths in patients with congenital anomalies of the kidney and urinary tract (CAKUT) indicate the high relevance of the declared topic. Currently, clinical medicine is actively engaged in research on the cellular and molecular mechanisms that cause the appearance of these diseases.
Aim:
The aim of the work is to study genetic markers of CAKUT and the tendency to a more severe course of pyelonephritis in young children.
Material and methods:
Using the multiplex polymerase chain reaction method, 50 children with pyelonephritis were examined for the presence of deletion alleles of the glutathione S-transferase mu 1 (GSTM1) and glutathione S-transferase theta 1 (GSTT1) genes.
Results and discussion:
As a result, 35 children were diagnosed with certain CAKUT. A statistically significant associative relationship between the development of pyelonephritis in a child and the presence of a null allele GSTM1 0/0 in its genotype and a high probability of CAKUT with quantitative and positional anomalies and impaired formation and differentiation of renal tissue in carriers of null alleles GSTT1 0/0, GSTM1 0/0 in their combination was revealed.
Conclusions:
The fact that different forms of abnormalities are detected in members of the same family suggests that certain genetic mutations can potentially lead to CAKUT syndrome, but the final phenotype of the renal system depends either on the genetic background or on environmental factors.
FUNDING
None declared.
CONFLICT OF INTEREST
None declared.
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