伴有脂肪肝的遗传代谢性肝病诊断策略*

doi:10.3969/j.issn.1672-5069.2026.04.001

Abstract

Wu Pengxuan, Liu Hui, Zheng Sujun. Inherited metabolic liver diseases that may present with hepatic steatosis: current state of the art[J]. Journal of Practical Hepatology, 2026, 29(4): 481-484.

[1] Guindi M. Wilson disease. Semin Diagn Pathol,2019,36(6):415-422.
[2] Schilsky ML. Wilsondisease: diagnosis, treatment, and follow-up. Clin Liver Dis,2017,21(4):755-767.
[3] Członkowska A, Litwin T, Dusek P, et al. Wilson disease. Nat Rev Dis Primers,2018,4(1):21.
[4] Liggi M, Murgia D, Civolani A, et al. The relationship between copper and steatosis in Wilson's disease. Clin Res Hepatol Gastroenterol,2013,37(1):36-40.
[5] Muchenditsi A, Yang H, Hamilton JP, et al. Targeted inactivation of copper transporter Atp7b in hepatocytes causes liver steatosis and obesity in mice. Am J Physiol Gastrointest Liver Physiol,2017,313(1):G39-G49.
[6] Buziau AM, Schalkwijk CG, Stehouwer CDA, et al. Recent advances in the pathogenesis of hereditary fructose intolerance: implications for its treatment and the understanding of fructose-induced non-alcoholic fatty liver disease. Cell Mol Life Sci,2020,77(9):1709-1719.
[7] Demirbas D, Coelho AI, Rubio-Gozalbo ME, et al. Hereditary galactosemia. Metabolism,2018,83:188-196.
[8] Massese M, Tagliaferri F, Dionisi-Vici C, et al. Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI.Orphanet J Rare Dis,2022,17(1):241.
[9] Wright TLF, Umaña LA, Ramirez CM. Update on glycogen storage disease: primary hepatic involvement. Curr Opin Pediatr,2022,34(5):496-502.
[10] Derks TG, Van Rijn M. Lipids in hepatic glycogen storage diseases: pathophysiology, monitoring of dietary management and future directions.J Inherit Metab Dis,2015,38(3):537-543.
[11] Derks TG, Smit GP. Dietary management in glycogen storage disease type III: what is the evidence? J Inherit Metab Dis,2015,38(3):545-550.
[12] Li H, Byers HM, Diaz-Kuan A, et al. Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.Mol Genet Metab,2018,123(4):428-432.
[13] Aldámiz-Echevarría L, De Las Heras J, Couce M, et al. Non-alcoholic fatty liver in hereditary fructose intolerance.Clin Nutr,2020,39(2):455-459.
[14] Tran C. Inbornerrors of fructose metabolism. What can we learn from them? Nutrients,2017,9(4):356.
[15] Merritt JL 2nd, MacLeod E, Jurecka A, et al. Clinical manifestations and management of fatty acid oxidation disorders.Rev Endocr Metab Disord,2020,21(4):479-493.
[16] Camarena C, Aldamiz-Echevarria LJ, Polo B, et al. Update on lysosomal acid lipase deficiency:diagnosis, treatment and patient management. Med Clin (Barc),2017,148(9):429.e1-429,e10.
[17] 张宜琼, 王建设. APOB基因变异致纯合型家族性低β脂蛋白血症1例并文献复习. 中华儿科杂志,2023,61(1):70-75.
[18] Lee J, Hegele RA. Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.J Inherit Metab Dis,2014,37(3):333-339.
[19] Knottnerus SJG, Bleeker JC, Wüst RCI, et al. Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle.Rev Endocr Metab Disord,2018,19(1):93-106.
[20] Wajner M, Amaral AU. Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies. Biosci Rep,2015,36(1):e00281.
[21] Saudubray JM, Martin D, de Lonlay P, et al. Recognition and management of fatty acid oxidation defects: a series of 107 patients.J Inherit Metab Dis,1999,22(4):488-502.
[22] Ivin N, Della Torre V, Sanders F, et al. Rhabdomyolysis caused by carnitine palmitoyltransferase 2 deficiency:a case report and systematic review of the literature. J Intensive Care Soc,2020,21(2):165-173.
[23] Carter A, Brackley SM, Gao J, et al. The global prevalence and genetic spectrum of lysosomal acid lipase deficiency:a rare condition that mimics NAFLD. J Hepatol,2019,70(1):142-150.
[24] Saheki T, Moriyama M, Funahashi A, et al. AGC2 (Citrin)deficiency-from recognition of the disease till construction of therapeutic procedures. Biomolecules,2020,10(8):1100.
[25] Chinsky JM, Singh R, Ficicioglu C, et al. Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations. Genet Med,2017,19(12):1380-1395.
[26] Ranucci G, Rigoldi M, Cotugno G, et al. Chronic liver involvement in urea cycle disorders.J Inherit Metab Dis,2019,42(6):1118-1127.
[27] Saheki T, Kobayashi K, Iijima M, et al. Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier. Hepatol Res,2005,33(2):181-184.
[28] Yeh JN, Jeng YM, Chen HL, et al. Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants. J Pediatr,2006,148(5):642-646.
[29] Saheki T, Kobayashi K, Iijima M, et al. Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle.Mol Genet Metab,2004,81(Suppl 1):S20-S26.
[30] Okano Y, Ohura T, Sakamoto O, et al. Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: strategy to prevent CTLN2. Mol Genet Metab,2019,127(3):175-183.
[31] Bigot A, Tchan MC, Thoreau B, et al. Liver involvement in urea cycle disorders: a review of the literature.J Inherit Metab Dis,2017,40(6):757-769.
[32] Sakiani S, Kleiner DE, Heller T, et al. Hepaticmanifestations of cystic fibrosis. Clin Liver Dis,2019,23(2):263-277.
[33] Zhang S, Ma Y, Zang X, et al. A case of 17q12 microdeletion syndrome in a MODY5 type diabetes with HNF-1β gene mutation accompanied. Appl Clin Genet,2024,17:125-130.
[34] 王征, 侯维, 郑素军. 肝功能异常的少见原因: 肾囊肿和糖尿病综合征1例. 中华肝脏病杂志,2023,31(7):752-755.
[35] Lopes-Pacheco M. CFTRmodulators: The changing face of cystic fibrosis in the era of precision medicine. Front Pharmacol,2019,10:1662.
[36] Bell SC, Mall MA, Gutierrez H, et al. The future of cystic fibrosis care: a global perspective. Lancet Respir Med,2020,8(1):65-124.
[37] Colombo C, Alicandro G. Liverdisease in cystic fibrosis: illuminating the black box. Hepatology (Baltimore, Md.),2019,69(4):1379-1381.
[38] Ooi CY, Durie PR. Cystic fibrosis from the gastroenterologist's perspective. Nat Rev Gastroenterol Hepatol,2016,13(3):175-185.
[39] Dana J, Debray D, Beaufrère A, et al. Cystic fibrosis-related liver disease:clinical presentations, diagnostic and monitoring approaches in the era of CFTR modulator therapies. J Hepatol,2022,76(2):420-434.
[40] Allende DS, Kleiner DE. Fatty liver disease that is neither metabolic nor alcoholic. Hum Pathol,2023,141:212-221.
[41] Bernhard W. Choline in cystic fibrosis: relations to pancreas insufficiency, enterohepatic cycle, PEMT and intestinal microbiota. Eur J Nutr,2021,60(4):1737-1759.
[42] Liebe R, Esposito I, Bock HH, et al. Diagnosis and management of secondary causes of steatohepatitis.J Hepatol,2021,74(6):1455-1471.
[43] Hegarty R, Deheragoda M, Fitzpatrick E, et al. Paediatric fatty liver disease (PeFLD):all is not NAFLD-pathophysiological insights and approach to management. J Hepatol,2018,68(6):1286-1299.
[44] 刘晖, 梁晨, 郑素军, 等. 遗传代谢性肝病的病理诊断思路. 中华肝脏病杂志,2022,30(11):1253-1258.

Inherited metabolic liver diseases that may present with hepatic steatosis: current state of the art

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