Elevated transaminases in the early diagnosis of Duchenne disease

H. Y. Borzieva; E. N. Abramova; A. A. Samkov; T. K. Markina; L. B. Kisteneva

doi:10.21508/1027-4065-2025-70-6-104-108

Elevated transaminases in the early diagnosis of Duchenne disease

H. Y. Borzieva, E. N. Abramova, A. A. Samkov, T. K. Markina, L. B. Kisteneva

https://doi.org/10.21508/1027-4065-2025-70-6-104-108

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Abstract

The article outlines the diagnostic approach for one of the most severe forms of hereditary muscular dystrophies, a genetic neuromuscular disorder — Duchenne muscular dystrophy. Cytolysis syndrome of extrahepatic origin and elevated creatine phosphokinase levels in biochemical blood tests may serve as initial diagnostic markers at preclinical or early clinical stages. The presented case highlights a lack of clinical vigilance among primary care physicians regarding this condition. Detection of neurological symptoms, comprehensive physical examination, and assessment of creatine phosphokinase levels in patients with isolated hypertransaminasemia can prevent costly and prolonged investigations for liver diseases and facilitate timely diagnosis of underlying neuromuscular disorders.

Keywords

Duchenne muscular dystrophy, hypertransaminasemia, increased creatinine phosphokinase

About the Authors

H. Y. Borzieva

Infectious Disease Clinical Hospital No.1 ; Gamaleya National Research Center of Epidemiology and Microbiology
Russian Federation

125310, Moscow

123098, Moscow

E. N. Abramova

Infectious Disease Clinical Hospital No.1
Russian Federation

125310, Moscow

A. A. Samkov

Infectious Disease Clinical Hospital No.1
Russian Federation

125310, Moscow

T. K. Markina

Infectious Disease Clinical Hospital No.1
Russian Federation

125310, Moscow

L. B. Kisteneva

Gamaleya National Research Center of Epidemiology and Microbiology
Russian Federation

123098, Moscow

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Review

For citations:

Borzieva H.Y., Abramova E.N., Samkov A.A., Markina T.K., Kisteneva L.B. Elevated transaminases in the early diagnosis of Duchenne disease. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2025;70(6):104-108. (In Russ.) https://doi.org/10.21508/1027-4065-2025-70-6-104-108

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