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Volynets G.V.

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

Khavkin A.I.

Research and Clinical Institute of Childhood

Potapov A.S.

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

Skvortsova T.A.

Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery — Pirogov Russian National Research Medical University;
Pirogov Russian National Research Medical University;
Morozovskaya Children’s City Clinical Hospital

Nikitin A.V.

Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery — Pirogov Russian National Research Medical University;
Pirogov Russian National Research Medical University;
Morozovskaya Children’s City Clinical Hospital

Gevorgyan A.K.

Russian Medical Academy of Continuous Professional Education

Primary bile acid synthesis disorders

Authors:

Volynets G.V., Khavkin A.I., Potapov A.S., Skvortsova T.A., Nikitin A.V., Gevorgyan A.K.

More about the authors

Journal: Russian Journal of Evidence-Based Gastroenterology. 2025;14(1): 71‑90

DOI: 10.17116/dokgastro20251401171

Read: 1715 times

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Table of contents

PRIMARY BILE ACID SYNTHESIS DISORDERS
PRIMARY BILE ACID SYNTHESIS DISORDERS

To cite this article:

Volynets GV, Khavkin AI, Potapov AS, Skvortsova TA, Nikitin AV, Gevorgyan AK. Primary bile acid synthesis disorders. Russian Journal of Evidence-Based Gastroenterology. 2025;14(1):71‑90. (In Russ.)
https://doi.org/10.17116/dokgastro20251401171

Подписка 2026 Доказательная гастроэнтерология (Russian Journal of Evidence-Based Gastroenterology)
МСФ на ЯМ
Использование инфографики авторами научных работ
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Abstract:

Primary bile acid synthesis disorders (BASDs) are rare autosomal recessive diseases characterized by multisystem manifestations, including cholestasis, progressive liver damage, and impaired absorption of fat-soluble vitamins. Diagnosis is challenging due to nonspecific clinical features, requiring a comprehensive approach that includes biochemical analysis, mass spectrometry, and genetic testing.

OBJECTIVE

To review current data on the pathogenesis, clinical manifestations, diagnosis, and treatment approaches for primary disorders of BASDs, including deficiencies of key enzymes involved in their metabolism.

KEY POINTS

BASDs synthesis is regulated by a complex enzymatic system, where mutations lead to the accumulation of toxic intermediate metabolites. Key clinical signs include cholestasis, absence of pruritus, normal gamma-glutamyl transpeptidase levels, and low serum bile acids concentrations. Modern diagnostic methods include next-generation sequencing (NGS), tandem mass spectrometry, and liver histology. Bile acid replacement therapy is the primary treatment, while liver transplantation is considered in severe cases.

CONCLUSION

Early diagnosis of primary BASDs is crucial for improving patient outcomes. Advances in molecular technologies facilitate the identification of rare mutations and the development of personalized treatment strategies.

Keywords:

bile acid synthesis disorders
cholestasis
children
bile acids
diagnosis

Authors:

Volynets G.V.

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

Khavkin A.I.

Research and Clinical Institute of Childhood

Potapov A.S.

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

Skvortsova T.A.

Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery — Pirogov Russian National Research Medical University;
Pirogov Russian National Research Medical University;
Morozovskaya Children’s City Clinical Hospital

Nikitin A.V.

Veltishchev Research Clinical Institute of Pediatrics and Pediatric Surgery — Pirogov Russian National Research Medical University;
Pirogov Russian National Research Medical University;
Morozovskaya Children’s City Clinical Hospital

Gevorgyan A.K.

Russian Medical Academy of Continuous Professional Education

Received:

30.10.2024

Accepted:

13.11.2024

Close metadata

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