EN
Etiological Evaluation of Patients with Hepatomegaly, Splenomegaly and Hepatosplenomegaly Referred to a Pediatric Metabolism Unit
Abstract
Purpose: Hepatomegaly, splenomegaly and hepatosplenomegaly in children can be due to infections, genetic liver diseases, hematological diseases or malignancies, autoimmune disorders, and also inborn errors of metabolism (IEM). Some IEM’s have specific treatments which should be started before irreversible complications occur. The aim of this study is to evaluate the etiological causes of visceromegaly in pediatric patients and assess the clinical findings of patients having an IEM.
Materials and Methods: In this study, medical records of 93 patients who were referred to Pediatric Metabolism Unit in a tertiary care hospital with the suspicion of IEM-related hepatomegaly, splenomegaly or hepatosplenomegaly were reviewed retrospectively.
Results: 45 patients had hepatomegaly, 18 had splenomegaly and 30 had hepatosplenomegaly. A total of 52 patients were diagnosed as having an IEM. 32 patients were lost to follow-up. The eventual diagnoses of 9 patients were not IEM.
Conclusion: IEMs present from prenatal period to adulthood. Awareness of clinicians and diagnostic algorithms can prevent delayed diagnosis and enable early treatment for treatable IEMs or provide genetic counseling for the patient’s family.
Keywords
References
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Details
Primary Language
English
Subjects
Paediatrics
Journal Section
Research Article
Authors
Publication Date
July 1, 2022
Submission Date
August 27, 2021
Acceptance Date
March 12, 2022
Published in Issue
Year 2022 Volume: 13 Number: 3
EndNote
Bulut FD, Bilginer Gürbüz B (July 1, 2022) Etiological Evaluation of Patients with Hepatomegaly, Splenomegaly and Hepatosplenomegaly Referred to a Pediatric Metabolism Unit. Acıbadem Üniversitesi Sağlık Bilimleri Dergisi 13 3 369–373.
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