Modern view on the etiology of gallstone disease in children

Volynets G.V.; Potapov A.S.; Skvortsova T.A.; Sergeenko E.Yu.; Nikitin A.V.

doi:https://doi.org/10.17116/dokgastro20241304159

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OBJECTIVE

To provide an overview of the current understanding of the pathogenesis of gallstone disease in children, with a focus on genetic predispositions, risk factors, and their influence on disease progression.

KEY POINTS

Cholesterol stone formation is linked to genetic mutations that impair cholesterol and phospholipid metabolism, particularly mutations in the ABCG5, ABCG8, and ABCB4 genes. These mutations hinder cholesterol excretion from bile, facilitating stone formation. Additionally, external factors such as obesity, high-fat diets, and parenteral nutrition in children with intestinal failure contribute significantly to GSD pathogenesis. Cholesterol stones are more prevalent in children with a high body mass index, while children with chronic conditions like hyperinsulinism and cystic fibrosis are at increased risk of stone formation.

CONCLUSION

GSD in children is a polyetiological condition in which genetic predisposition plays a crucial role. However, environmental factors, including diet and medications, substantially influence the risk of stone formation. Early identification of risk factors and preventive interventions can help reduce the incidence of GSD complications in children.

Keywords:

gallstone disease

children

pathogenesis

genetic predisposition

obesity

Authors:

Volynets G.V.

Veltischev Research Clinical Institute of Pediatrics and Pediatric Surgery — Pirogov Russian National Research Medical University;
Pirogov Russian National Research Medical University

ORCID: 0000-0002-5413-9599

Potapov A.S.

National Medical Research Center for Children’s Health;
Sechenov First Moscow State Medical University

ORCID: 0000-0003-4905-2373

Skvortsova T.A.

Veltischev Research Clinical Institute of Pediatrics and Pediatric Surgery — Pirogov Russian National Research Medical University;
Morozov Children’s City Clinical Hospital, Moscow City Health Department

ORCID: 0000-0002-6525-8665

Sergeenko E.Yu.

Pirogov Russian National Research Medical University;
Voyno-Yasenetsky Research and Practical Center for Specialized Medical Care for Children

ORCID: 0000-0001-7882-1317

Nikitin A.V.

ORCID: 0000-0001-8837-9243

Received:

10.08.2024

Accepted:

11.10.2024

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