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.

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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
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article

Syndromic obesity in children (using the example of clinical cases)

Л. А. Харитонова, M. L. Babayan
1 citations
Experimental and Clinical Gastroenterology
Birth, Development, and Health
1.11
article

Syndromic obesity in children (using the example of clinical cases)

Л. А. Харитонова, M. L. Babayan
article en
1 citations

Abstract

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.

Experimental and Clinical Gastroenterology(6)
Pirogov Russian National Research Medical University (RU), Ministry of Health of the Russian Federation (RU)
Good health and well-being
Openalex Percentile: Top 17%
Birth, Development, and Health
1.11
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