Syndromic obesity in children (using the example of clinical cases)
Obesity is a heterogeneous group of hereditary and acquired diseases associated with excessive accumulation of adipose tissue in the body. One example of syndromic obesity in children is Bardet-Biedl syndrome. This is a rare autosomal recessive disease from the group of ciliopathies, characterized by retinal dystrophy, obesity, polydactyly, mental retardation, hypogonadism, and renal dysfunction. The article presents two clinical cases of Bardet-Biedl syndrome. Diagnostic criteria for the disease are given, and the need for molecular genetic research methods in the early stages of the diagnostic search is shown. Promising directions in the treatment of the syndrome are considered.
Authors
- Л. А. Харитонова (ORCID: https://orcid.org/0000-0003-2298-7427)
- M. L. Babayan
Institutions
- Pirogov Russian National Research Medical University (RU)
- Ministry of Health of the Russian Federation (RU)
Publication Details
- Journal
- Experimental and Clinical Gastroenterology
- Published
- 2024-10-22
- DOI
- https://doi.org/10.31146/1682-8658-ecg-226-6-215-220
- Citations
- 1
- Primary Topic
- Birth, Development, and Health
- Type
- article
- Field-Weighted Citation Impact
- 1.11