Clinical and genetic characteristics of chronic pancreatitis in patients under 20 years old
Abstract
Chronic pancreatitis (CP) is an urgent problem of modern medicine. If CP manifests in childhood, the course of the disease is particularly severe and often requires surgical treatment. In Russia there are few investigations of the genetic causes of pancreatitis. There is even less data on the influence of genetic factors on the pancreatitis development in children. In this study we performed genotyping of 25 CP patients with a clinical manifestation of the disease at the age under 20 years old. Genetic analysis was carried out by Next Generation Sequencing (NGS). All coding regions of the SPINK1 and PRSS1 genes were analyzed. Mutations of the mentioned genes were found in 11 patients (44%). The spectrum of mutations and the clinical course of CP in Russian individuals younger than 20 years old have been established. The identification of the molecular genetic cause of CP helps to predict the severity of the disease and to prevent the disease in the relatives of the patient.
About the Authors
M. M. Litvinova
I.M. Sechenov First Moscow State Medical University
Russian Federation
Russian Federation
K. . Khafizov
Center of Strategic Planning of FMBA of Russia
Russian Federation
Russian Federation
K. A. Nikolskaya
The Loginov Moscow Clinical Scientific Center of Moscow Health Department
Russian Federation
Russian Federation
L. V. Vinokurova
The Loginov Moscow Clinical Scientific Center of Moscow Health Department
Russian Federation
Russian Federation
E. A. Dubtsova
The Loginov Moscow Clinical Scientific Center of Moscow Health Department
Russian Federation
Russian Federation
A. D. Matsvay
Center of Strategic Planning of FMBA of Russia
Russian Federation
Russian Federation
M. G. Ipatova
N.F. Filatov Children’s City Hospital
Russian Federation
Russian Federation
A. I. Khavkin
Academician Y.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
T. F. Muhina
Morozov Children’s City Hospital
Russian Federation
Russian Federation
D. S. Bordin
The Loginov Moscow Clinical Scientific Center of Moscow Health Department
Russian Federation
Russian Federation
Review
For citations:
Litvinova M.M., Khafizov K., Nikolskaya K.A., Vinokurova L.V., Dubtsova E.A., Matsvay A.D., Ipatova M.G., Khavkin A.I., Muhina T.F., Bordin D.S. Clinical and genetic characteristics of chronic pancreatitis in patients under 20 years old. Medical Genetics. 2020;19(8):80-82. (In Russ.)
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