Preclinical diagnostics of von Hippel-Lindau syndrome in a child
https://doi.org/10.14341/probl13280
Abstract
The description of the child aged 5 months with the von Hippel-Lindau syndrome without any manifestations of this syndrome is presented. The reason for the molecular genetic examination was the presence of cases of this syndrome in the family (mother and sister). The heterozygous variant c.355T>C p.F119L was found in the VHL gene. An objective examination revealed no pathology. A comprehensive laboratory and instrumental examination aimed at searching for components of the von Hippel-Lindau syndrome, including a blood test for metanephrines and normetanephrines, ultrasound of the abdominal organs, examination of the fundus, also did not reveal any abnormalities. Given the results of molecular genetic diagnosis, the child remains under observation and will undergo regular examinations to identify components of the von Hippel-Lindau syndrome, including blood/urine tests for normetanephrines.
About the Authors
O. A. Malievskiy
Bashkir State Medical University
Russian Federation
Competing Interests:
Russian Federation
Oleg A. Malievskiy - MD, PhD, Professor, Senjor Lecturer at Hospital therapy Chair, Chief Pediatric Endocrinologist of the Bashkortostan Republic Ministry of Health.
3 Lenina street, 450008 Ufa
Competing Interests:
None
R. I. Malievskaya
Bashkir State Medical University
Russian Federation
Competing Interests:
Russian Federation
Ramsiya I. Malievskaya.
Ufa
Competing Interests:
None
V. A. Malievskiy
Bashkir State Medical University
Russian Federation
Competing Interests:
Russian Federation
Victor A. Malievskiy - MD, PhD, Professor.
Ufa
Competing Interests:
None
A. N. Tulpakov
Research Centre for Medical Genetics; Russian Children’s Clinical Hospital
Russian Federation
Competing Interests:
Russian Federation
Anatoliy N. Tulpakov.
Moscow
Competing Interests:
None
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For citations:
Malievskiy O.A., Malievskaya R.I., Malievskiy V.A., Tulpakov A.N. Preclinical diagnostics of von Hippel-Lindau syndrome in a child. Problems of Endocrinology. 2024;70(1):100-104. (In Russ.) https://doi.org/10.14341/probl13280
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