Dergiler / Turkish Journal of Gastroenterology / 2020 / Cilt: 31 - Sayı: 1

Inborn errors of metabolism in the differential diagnosis of fatty liver disease

Sayfa
3–16
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

A suggested clinical and laboratory diagnostic approach is also discussed.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Nonalcoholic fatty liver disease (NAFLD) has become the most common chronic liver disease across all age groups.
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Temel Bulgular & Veri:Obesity, diabetes,and metabolic syndrome, are the primary causes that are closely linked with the development of NAFLD.
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Sonuç & Katkı:A suggested clinical and laboratory diagnostic approach is also discussed.
🔬Tür:Literatür & Derleme Çalışması
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Özet

Nonalcoholic fatty liver disease (NAFLD) has become the most common chronic liver disease across all age groups. Obesity, diabetes,and metabolic syndrome, are the primary causes that are closely linked with the development of NAFLD. However, in young children,rare inborn errors of metabolism are predominant secondary causes of NAFLD. Furthermore, inborn errors of metabolism causing hepatosteatosis are often misdiagnosed as NAFLD in adolescents and adults. Many inborn errors of metabolism are treatable disorders andtherefore require special consideration. This review aims to summarize the basic characteristics and diagnostic clues of inborn errors ofmetabolism associated with fatty liver disease. A suggested clinical and laboratory diagnostic approach is also discussed.

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Bu Makaleye Atıf Yap

YILMAZ, M. Y., SİVRİ, H. S. (2020). Inborn errors of metabolism in the differential diagnosis of fatty liver disease. Turkish Journal of Gastroenterology, Cilt: 31 - Sayı: 1, 3–16. https://ajindex.com/articles/409204

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Kaynakça (14)

  1. Rinella ME. Nonalcoholic fatty liver disease: a systematic review. JAMA 2015; 313: 2263-73
  2. Vajro P, Lenta S, Socha P, et al. Diagnosis of nonalcoholic fatty liver disease in children and adolescents: position paper of the ESPGHAN Hepatology Committee. J Pediatr Gastroenterol Nutr 2012; 54: 700-13
  3. Goh GB, McCullough AJ. Natural History of Nonalcoholic Fatty Liver Disease. Dig Dis Sci 2016; 61: 1226-33
  4. Schwimmer JB, Deutsch R, Kahen T, Lavine JE, Stanley C, Behling C. Prevalence of fatty liver in children and adolescents. Pediatrics 2006; 118: 1388-93
  5. Chalasani N, Younossi Z, Lavine JE, et al. The diagnosis and management of non-alcoholic fatty liver disease: practice guideline by the American Gastroenterological Association, American Association for the Study of Liver Diseases, and American College of Gastroenterology. Gastroenterology 2012; 142: 1592-609
  6. Ferreira CR, van Karnebeek CDM, Vockley J, Blau N. A proposed nosology of inborn errors of metabolism. Genet Med 2019; 21: 102-6
  7. Waters D, Adeloye D, Woolham D, Wastnedge E, Patel S, Rudan I. Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence. J Glob Health 2018; 8:021102
  8. Afzal RM, Lund AM, Skovby F. The impact of consanguinity on the frequency of inborn errors of metabolism. Mol Genet Metab Rep 2018; 15: 6-10
  9. European Association for the Study of the Liver, European Association for the Study of Diabetes, European Association for the Study of Obesity. EASL-EASD-EASO Clinical Practice Guidelines for the management of non-alcoholic fatty liver disease. J Hepatol 2016; 64: 1388-402
  10. Hegarty R, Deheragoda M, Fitzpatrick E, Dhawan A. Paediatric fatty liver disease (PeFLD): All is not NAFLD - Pathophysiological insights and approach to management. J Hepatol 2018; 68: 1286-99
  11. Demirbas D, Brucker WJ, Berry GT. Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine. Pediatr Clin North Am 2018; 65: 337-52
  12. Jumbo-Lucioni PP, Hopson ML, Hang D, Liang Y, Jones DP, Fridovich-Keil JL. Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia. Dis Model Mech 2013; 6: 84-94
  13. Welling L, Bernstein LE, Berry GT, et al. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis 2017; 40: 171-6
  14. Ozen H. Glycogen storage diseases: new perspectiv