Research Article
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Etiological Evaluation of Patients with Hepatomegaly, Splenomegaly and Hepatosplenomegaly Referred to a Pediatric Metabolism Unit

Year 2022, Volume 13, Issue 3, 369 - 373, 01.07.2022
https://doi.org/10.31067/acusaglik.987546

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.

References

  • Curovic Rotbain E, Lund Hansen D, Schaffalitzky de Muckadell O, Wibrand F, Meldgaard Lund A, Frederiksen H. Splenomegaly - Diagnostic validity, work-up, and underlying causes. PLoS One 2017;12(11):e0186674. DOI: 10.1371/journal.pone.0186674
  • Sjoberg BP, Menias CO, Lubner MG, Mellnick VM, Pickhardt PJ. Splenomegaly: A Combined Clinical and Radiologic Approach to the Differential Diagnosis. Gastroenterol Clin North Am 2018;47(3):643-66. DOI: 10.1016/j.gtc.2018.04.009
  • Konuş OL, Ozdemir A, Akkaya A, Erbaş G, Celik H, Işik S. Normal liver, spleen, and kidney dimensions in neonates, infants, and children: evaluation with sonography. AJR Am J Roentgenol 1998;171(6):1693-8. DOI: 10.2214/ajr.171.6.9843315.
  • Poojari V, Shah I, Shetty NS, Mirani S, Tolani D. Clinical profile and outcome of glycogen storage disease in Indian children. Trop Doct 2021;51(2):189-92. DOI: 10.1177/0049475520961935
  • Oussoren E, Wagenmakers MAEM, Link B, van der Meijden JC, Pijnappel WWMP, Ruijter GJG, et al. Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives. Bone 2021;143:115729. DOI: 10.1016/j.bone.2020.115729
  • Yıldız Y, Sivri HS. Inborn errors of metabolism in the differential diagnosis of fatty liver disease. Turk J Gastroenterol 2020;31(1):3-16. DOI: 10.5152/tjg.2019.19367

Year 2022, Volume 13, Issue 3, 369 - 373, 01.07.2022
https://doi.org/10.31067/acusaglik.987546

Abstract

References

  • Curovic Rotbain E, Lund Hansen D, Schaffalitzky de Muckadell O, Wibrand F, Meldgaard Lund A, Frederiksen H. Splenomegaly - Diagnostic validity, work-up, and underlying causes. PLoS One 2017;12(11):e0186674. DOI: 10.1371/journal.pone.0186674
  • Sjoberg BP, Menias CO, Lubner MG, Mellnick VM, Pickhardt PJ. Splenomegaly: A Combined Clinical and Radiologic Approach to the Differential Diagnosis. Gastroenterol Clin North Am 2018;47(3):643-66. DOI: 10.1016/j.gtc.2018.04.009
  • Konuş OL, Ozdemir A, Akkaya A, Erbaş G, Celik H, Işik S. Normal liver, spleen, and kidney dimensions in neonates, infants, and children: evaluation with sonography. AJR Am J Roentgenol 1998;171(6):1693-8. DOI: 10.2214/ajr.171.6.9843315.
  • Poojari V, Shah I, Shetty NS, Mirani S, Tolani D. Clinical profile and outcome of glycogen storage disease in Indian children. Trop Doct 2021;51(2):189-92. DOI: 10.1177/0049475520961935
  • Oussoren E, Wagenmakers MAEM, Link B, van der Meijden JC, Pijnappel WWMP, Ruijter GJG, et al. Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives. Bone 2021;143:115729. DOI: 10.1016/j.bone.2020.115729
  • Yıldız Y, Sivri HS. Inborn errors of metabolism in the differential diagnosis of fatty liver disease. Turk J Gastroenterol 2020;31(1):3-16. DOI: 10.5152/tjg.2019.19367

Details

Primary Language English
Subjects Pediatrics
Journal Section Research Article
Authors

Fatma Derya BULUT> (Primary Author)
SAĞLIK BİLİMLERİ ÜNİVERSİTESİ, ADANA ŞEHİR SAĞLIK UYGULAMA VE ARAŞTIRMA MERKEZİ
0000-0003-0529-2404
Türkiye


Berrak BİLGİNER GÜRBÜZ>
SAĞLIK BİLİMLERİ ÜNİVERSİTESİ, ADANA ŞEHİR SAĞLIK UYGULAMA VE ARAŞTIRMA MERKEZİ
0000-0002-6197-0647
Türkiye

Publication Date July 1, 2022
Application Date August 27, 2021
Acceptance Date March 12, 2022
Published in Issue Year 2022, Volume 13, Issue 3

Cite

EndNote %0 Acıbadem Üniversitesi Sağlık Bilimleri Dergisi Etiological Evaluation of Patients with Hepatomegaly, Splenomegaly and Hepatosplenomegaly Referred to a Pediatric Metabolism Unit %A Fatma Derya Bulut , Berrak Bilginer Gürbüz %T Etiological Evaluation of Patients with Hepatomegaly, Splenomegaly and Hepatosplenomegaly Referred to a Pediatric Metabolism Unit %D 2022 %J Acıbadem Üniversitesi Sağlık Bilimleri Dergisi %P 1309-470X-1309-5994 %V 13 %N 3 %R doi: 10.31067/acusaglik.987546 %U 10.31067/acusaglik.987546