Genetic factors of the development of chronic pancreatitis
Litvinova M. M., Хафизов К. Ф., Шипулин Г. А., Ayginin A. A., Винокурова Л. В., Nikolskaya K. A., Dubtsova E. A., Бордин Д. С., Асанов А. Ю.
Вопросы практической педиатрии
Т. 13, Вып. 3, С. 29-40
Опубликовано: 2018
Тип ресурса: Статья
DOI:10.20953/1817-7646-2018-3-29-40
Аннотация:
Chronic pancreatitis, being a complex multifactor clinico-genetic phenomenon, is a significant medical, social and economic problem. Study of pancreatitis remains a topical theme also for the paediatric cohort, especially taking into account practically similar morbidity rates in adults and children. The review presents information and analyzes main genetic risk factors of the development of pancreatitis. Mutations and polymorphisms of the CFTR, CTRC, SPINK1, CPA1, PRSS1, PRSS2 genes that are significant for functioning of the pancreas are discussed in detail. Examples of genetic variants associated with increased or decreased risks of developing disease are given. Special attention is paid to difficulties of interpreting the results of molecular-genetic testing associated with certain gene homology, presence of pseudogenes and disease cases conditioned by spontaneous mutation. Detection of genetic risk factors of chronic pancreatitis allows to early prevent the development of disease
Ключевые слова:
CFTR; CPA1; CTRC; Genetic causes; Hereditary; Idiopathic; Mutations; Pancreatitis; PRSS1; PRSS2; SPINK1
Язык текста: Русский
ISSN: 2414-9705
Litvinova M. M. Mariya Mikhaylovna 1982-
Хафизов К. Ф.
Шипулин Г. А.
Ayginin A. A.
Винокурова Л. В.
Nikolskaya K. A.
Dubtsova E. A.
Бордин Д. С.
Асанов А. Ю. Алий Юрьевич 1945-
Литвинова М. М. Мария Михайловна 1982-
Khafizov K. F.
Shipulin G. A.
Аyгинин А. А.
Vinokurova L. V.
Николскайа К. А.
Дубцова Е. А.
Bordin D. S.
Asanov A. Yu. Alij Yuryevich 1945-
Genetic factors of the development of chronic pancreatitis
Текст визуальный непосредственный
Вопросы практической педиатрии
ООО "Издательство "Династия"
Т. 13, Вып. 3 С. 29-40
2018
Статья
CFTR CPA1 CTRC Genetic causes Hereditary Idiopathic Mutations Pancreatitis PRSS1 PRSS2 SPINK1
Chronic pancreatitis, being a complex multifactor clinico-genetic phenomenon, is a significant medical, social and economic problem. Study of pancreatitis remains a topical theme also for the paediatric cohort, especially taking into account practically similar morbidity rates in adults and children. The review presents information and analyzes main genetic risk factors of the development of pancreatitis. Mutations and polymorphisms of the CFTR, CTRC, SPINK1, CPA1, PRSS1, PRSS2 genes that are significant for functioning of the pancreas are discussed in detail. Examples of genetic variants associated with increased or decreased risks of developing disease are given. Special attention is paid to difficulties of interpreting the results of molecular-genetic testing associated with certain gene homology, presence of pseudogenes and disease cases conditioned by spontaneous mutation. Detection of genetic risk factors of chronic pancreatitis allows to early prevent the development of disease