A family case of Shwachman-Diamond syndrome in children with a rare genetic variant of the SBDS gene с.653G>A (p.Arg218Gln)
- Authors: Grymova N.N.1,2, Shadrina V.V.3,4, Furman E.G.1
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Affiliations:
- Ye.A. Vagner Perm State Medical University
- Perm Regional Children's Clinical Hospital
- Research Clinical Institute of Childhood
- N. P. Bochkov Research Centre for Medical Genetics
- Issue: Vol 42, No 1 (2025)
- Pages: 130-138
- Section: Clinical case
- URL: https://ogarev-online.ru/PMJ/article/view/287620
- DOI: https://doi.org/10.17816/pmj421130-138
- ID: 287620
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Abstract
Shwachman – Diamond syndrome is a hereditary ribosomopathy which is manifested by exocrine pancreatic insufficiency, hematological disorders, stunted growth and bone deformities. The pathology is caused by mutations in the SBDS gene. Early detection of the disease and timely treatment, including the use of enzyme preparations, specialized nutrition and granulocytic colony-stimulating factors, contribute to improving the patients' quality of life and prognosis.
A clinical case of a family manifestation of this syndrome is presented in the article. The diagnosis was made and confirmed by a genetic study only at the age of 1. From birth, the girl had clinical manifestations of atopic dermatitis, with a torpid course to therapy, characteristic stools, changes in the general blood test (GBT) in the form of leukopenia and neutropenia of varying severity, changes in the biochemical blood test (BCBT) in the form of increased liver enzymes. Also, the patient has an 8-year-old elder sister with similar changes in the GBT. To exclude the presence of pathogenic genetic variants of the SBDS gene in the cis-position, the girl's parents were examined.
A pathogenic variant of the SBDS gene C.258+2T>C in a heterozygous state was revealed in the girl's mother, while the father had the variant C.653G>A (p.Arg218Gln) in a heterozygous state. Taking into account the hereditary nature of the disease, the girl's elder sister underwent a genetic examination as well at the age of seven. The study also revealed two pathogenic variants of the SBDS gene C.653G>A (p.Arg218Gln) and C.258+2T>C in a compound heterozygous state. Thus, SDS in the child was confirmed by genetic methods of examination.
The case described in the article is aimed at attraction the pediatricians' attention to the correct assessment of GBT indicators (knowledge of age-related norms of the blood cells count and age-specific features of the leukoformula), the ability to count the absolute number of granulocytes. To clarify the nature of neutropenia (congenital, acquired), it is necessary to evaluate the GBT results in dynamics.
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##article.viewOnOriginalSite##About the authors
N. N. Grymova
Ye.A. Vagner Perm State Medical University; Perm Regional Children's Clinical Hospital
Author for correspondence.
Email: tashagrymova@gmail.com
ORCID iD: 0000-0001-5217-5089
PhD (Medicine), Associate Professor of the Department of Faculty and Hospital Pediatrics, Allergist Immunologist
Russian Federation, Perm; PermV. V. Shadrina
Research Clinical Institute of Childhood; N. P. Bochkov Research Centre for Medical Genetics
Email: tashagrymova@gmail.com
ORCID iD: 0000-0002-2588-2260
PhD (Medicine), Associate Professor of the Department of Faculty and Hospital Pediatrics, Head of the Research Clinical Department of Hereditary and Metabolic Diseases, Leading Researcher of the Research Clinical Department of Cystic Fibrosis, Pediatrician
Russian Federation, Mytishchi; MoscowE. G. Furman
Ye.A. Vagner Perm State Medical University
Email: tashagrymova@gmail.com
ORCID iD: 0000-0002-1751-5532
DSc (Medicine), Professor, Head of the Department of Faculty and Hospital Pediatrics
Russian Federation, PermReferences
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