Diffuse familial adenomatous intestinal polyposis in childhood: current state of the problem and case report
 
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1
Department of Pediatrics, Ivano-Frankivsk National Medical University, Ukraine
 
2
Department of Pharmacology, Ivano-Frankivsk National Medical University, Ukraine
 
 
Submission date: 2023-11-05
 
 
Acceptance date: 2024-01-24
 
 
Publication date: 2024-03-30
 
 
Corresponding author
Tetiana Shatynska   

Department of Pediatrics, Ivano-Frankivsk National Medical University, 132 Konovaltsia, 76014, Ivano-Frankivsk, Ukraine
 
 
Wiadomości Lekarskie 2024;77(2):338-344
 
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ABSTRACT
Aim:
To explore the prevalence, clinical characteristics, and diagnostic aspects of diffuse familial adenomatous polyposis in childhood. This objective is accomplished through an extensive review of recent literature, and the presentation of case report from our clinical practice.

Material and methods:
We analyzed 75 scientific papers, the findings of which have been documented in the PubMed database. Our search criteria included keywords such as "diffuse familial adenomatous intestinal polyposis," "children," and "diagnosis." Then we conducted a second-stage analysis that involved a detailed review of a practical case – the medical records of inpatient Kh.V. who had been diagnosed with familial adenomatous polyposis.

Case report:
A review of scientific publications identified 75 papers discussing familial adenomatous polyposis. It is established that this disease carries a 1% risk of developing colorectal cancer. Examination of 17 years old Kh. V. has revealed: periodic cramping and spastic abdominal pain. The boy had a notable family history on his paternal side. Upon abdominal examination, the abdomen was soft upon palpation, but tenderness was noted in the epigastric and umbilical regions, as well as both retroperitoneal areas. The abdomen was distended.

Summary:
The analysis of the literature data is consistent with the findings from our clinical observations of familial adenomatous polyposis in a patient with complicated family anamnesis. It is worth noting that clinical features do not significantly differ across various types of polyposis. In cases of suspected familial adenomatous polyposis in adolescents, genetic testing is crucial.

eISSN:2719-342X
ISSN:0043-5147
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