中文English
ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 38 Issue 2
Feb.  2022
Turn off MathJax
Article Contents

Inherited metabolic diseases causing acute liver failure in children

DOI: 10.3969/j.issn.1001-5256.2022.02.005
Research funding:

Natural Science Foundation of Science and Technology Commission of Shanghai Municipality (20ZR1446300)

More Information
  • Corresponding author: ZHANG Huiwen, zhanghuiwen@xinhuamed.com.cn
  • Received Date: 2021-10-15
  • Accepted Date: 2021-11-16
  • Published Date: 2022-02-20
  • Acute liver failure (ALF) in children has complex etiologies, among which inherited metabolic diseases account for a high proportion, especially in infants and young children. Inherited metabolic diseases are a group of congenital diseases with destruction of cell physiological function caused by metabolism-related gene mutations, with various types and diverse clinical manifestations. ALF is one of the serious complications caused by such diseases and is easily neglected due to a lack of specific manifestations. ALF caused by such etiologies should be identified as early as possible to reverse the progression of ALF and improve the prognosis of patients. This article summarizes the common inherited metabolic diseases that can cause ALF in children, in order to improve the awareness of such etiology among physicians.

     

  • loading
  • [1]
    JIANG T, OUYANG WX, TAN YF, et al. Analysis of etiology and prognosis of 120 children with pediatric acute liver failure[J]. Chin J Appl Clin Pediatr, 2020, 35(6): 422-425. DOI: 10.3760/cma.j.cn101070-20191108-01113.

    姜涛, 欧阳文献, 谭艳芳, 等. 儿童急性肝衰竭120例病因和预后分析[J]. 中华实用儿科临床杂志, 2020, 35(6): 422-425. DOI: 10.3760/cma.j.cn101070-20191108-01113.
    [2]
    ALAM S, LAL BB. Metabolic liver diseases presenting as acute liver failure in children[J]. Indian Pediatr, 2016, 53(8): 695-701. DOI: 10.1007/s13312-016-0913-1.
    [3]
    LAEMMLE A, GALLAGHER RC, KEOGH A, et al. Frequency and pathophysiology of acute liver failure in ornithine transcarbamylase deficiency (OTCD)[J]. PLoS One, 2016, 11(4): e0153358. DOI: 10.1371/journal.pone.0153358.
    [4]
    GALLAGHER RC, LAM C, WONG D, et al. Significant hepatic involvement in patients with ornithine transcarbamylase deficiency[J]. J Pediatr, 2014, 164(4): 720-725. DOI: 10.1016/j.jpeds.2013.12.024.
    [5]
    CICHOŻ-LACH H, MICHALAK A. Current pathogenetic aspects of hepatic encephalopathy and noncirrhotic hyperammonemic encephalopathy[J]. World J Gastroenterol, 2013, 19(1): 26-34. DOI: 10.3748/wjg.v19.i1.26.
    [6]
    HAYASAKA K. Metabolic basis and treatment of citrin deficiency[J]. J Inherit Metab Dis, 2021, 44(1): 110-117. DOI: 10.1002/jimd.12294.
    [7]
    CLARKSTON K, LEE J, DONOGHUE S, et al. Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females[J]. Am J Med Genet A, 2021, 185(3): 909-915. DOI: 10.1002/ajmg.a.62031.
    [8]
    CHONGSRISAWAT V, DAMRONGPHOL P, ITTIWUT C, et al. The phenotypic and mutational spectrum of Thai female patients with ornithine transcarbamylase deficiency[J]. Gene, 2018, 679: 377-381. DOI: 10.1016/j.gene.2018.09.026.
    [9]
    HÄBERLE J, BURLINA A, CHAKRAPANI A, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision[J]. J Inherit Metab Dis, 2019, 42(6): 1192-1230. DOI: 10.1002/jimd.12100.
    [10]
    OZANNE B, NELSON J, COUSINEAU J, et al. Threshold for toxicity from hyperammonemia in critically ill children[J]. J Hepatol, 2012, 56(1): 123-128. DOI: 10.1016/j.jhep.2011.03.021.
    [11]
    de LAS HERAS J, ALDÁMIZ-ECHEVARRÍA L, MARTÍNEZ-CHANTAR ML, et al. An update on the use of benzoate, phenylacetate and phenylbutyrate ammonia scavengers for interrogating and modifying liver nitrogen metabolism and its implications in urea cycle disorders and liver disease[J]. Expert Opin Drug Metab Toxicol, 2017, 13(4): 439-448. DOI: 10.1080/17425255.2017.1262843.
    [12]
    TEUFEL U, WEITZ J, FLECHTENMACHER C, et al. High urgency liver transplantation in ornithine transcarbamylase deficiency presenting with acute liver failure[J]. Pediatr Transplant, 2011, 15(6): e110-e115. DOI: 10.1111/j.1399-3046.2009.01171.x.
    [13]
    KIDO J, MATSUMOTO S, HÄBERLE J, et al. Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan[J]. J Inherit Metab Dis, 2021, 44(6): 1311-1322. DOI: 10.1002/jimd.12415.
    [14]
    WAKIYA T, SANADA Y, MIZUTA K, et al. Living donor liver transplantation for ornithine transcarbamylase deficiency[J]. Pediatr Transplant, 2011, 15(4): 390-395. DOI: 10.1111/j.1399-3046.2011.01494.x.
    [15]
    TANGUAY RM, ANGILERI F, VOGEL A. Molecular pathogenesis of liver injury in hereditary tyrosinemia 1[J]. Adv Exp Med Biol, 2017, 959: 49-64. DOI: 10.1007/978-3-319-55780-9_4.
    [16]
    SCOTT CR. The genetic tyrosinemias[J]. Am J Med Genet C Semin Med Genet, 2006, 142C(2): 121-126. DOI: 10.1002/ajmg.c.30092.
    [17]
    DAOU KN, BARHOUMI A, BASSYOUNI A, et al. Diagnostic and therapeutic challenges of hereditary tyrosinemia type 1 in Lebanon: A 12-year retrospective review[J]. Front Pediatr, 2021, 9: 698577. DOI: 10.3389/fped.2021.698577.
    [18]
    van SPRONSEN FJ, THOMASSE Y, SMIT GP, et al. Hereditary tyrosinemia type Ⅰ: A new clinical classification with difference in prognosis on dietary treatment[J]. Hepatology, 1994, 20(5): 1187-1191. DOI: 10.1002/hep.1840200513
    [19]
    SPIEKERKOETTER U, COUCE ML, DAS AM, et al. Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: A 15-year non-interventional, multicentre study[J]. Lancet Diabetes Endocrinol, 2021, 9(7): 427-435. DOI: 10.1016/S2213-8587(21)00092-9.
    [20]
    HOLME E, LINDSTEDT S. Nontransplant treatment of tyrosinemia[J]. Clin Liver Dis, 2000, 4(4): 805-814. DOI: 10.1016/s1089-3261(05)70142-2.
    [21]
    GIL-MARTÍNEZ J, MACIAS I, UNIONE L, et al. Therapeutic targeting of fumaryl acetoacetate hydrolase in hereditary tyrosinemia type Ⅰ[J]. Int J Mol Sci, 2021, 22(4): 1789. DOI: 10.3390/ijms22041789.
    [22]
    GU P, YANG Q, CHEN B, et al. Genetically blocking HPD via CRISPR-Cas9 protects against lethal liver injury in a pig model of tyrosinemia type Ⅰ[J]. Mol Ther Methods Clin Dev, 2021, 21: 530-547. DOI: 10.1016/j.omtm.2021.04.002.
    [23]
    BIGOT A, TCHAN MC, THOREAU B, et al. Liver involvement in urea cycle disorders: A review of the literature[J]. J Inherit Metab Dis, 2017, 40(6): 757-769. DOI: 10.1007/s10545-017-0088-5.
    [24]
    ZHANG MH, GONG JY, WANG JS. Citrin deficiency presenting as acute liver failure in an eight-month-old infant[J]. World J Gastroenterol, 2015, 21(23): 7331-7334. DOI: 10.3748/wjg.v21.i23.7331.
    [25]
    FERNÁNDEZ TOMÉ L, STARK AROEIRA LG, MUÑOZ BARTOLO G, et al. Citrin deficiency: Early severe cases in a European country[J]. Clin Res Hepatol Gastroenterol, 2021, 45(4): 101595. DOI: 10.1016/j.clinre.2020.101595.
    [26]
    GUNAYDIN M, BOZKURTER CIL AT. Progressive familial intrahepatic cholestasis: Diagnosis, management, and treatment[J]. Hepat Med, 2018, 10: 95-104. DOI: 10.2147/HMER.S137209.
    [27]
    GÜL-KLEIN S, ÖLLINGER R, SCHMELZLE M, et al. Long-term outcome after liver transplantation for progressive familial intrahepatic cholestasis[J]. Medicina (Kaunas), 2021, 57(8): 854. DOI: 10.3390/medicina57080854.
    [28]
    LIU Y, SUN LY, ZHU ZJ, et al. Liver transplantation for progressive familial intrahepatic cholestasis[J]. Ann Transplant, 2018, 23: 666-673. DOI: 10.12659/AOT.909941.
    [29]
    GONZALES E, GROSSE B, SCHULLER B, et al. Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: Evidence for improvement of cholestasis with 4-phenylbutyrate[J]. Hepatology, 2015, 62(2): 558-566. DOI: 10.1002/hep.27767.
    [30]
    ENGELMANN G, WENNING D, HEREBIAN D, et al. Two case reports of successful treatment of cholestasis with steroids in patients with PFIC-2[J]. Pediatrics, 2015, 135(5): e1326-e1332. DOI: 10.1542/peds.2014-2376.
    [31]
    ANDERSON S. GALT deficiency galactosemia[J]. MCN Am J Matern Child Nurs, 2018, 43(1): 44-51. DOI: 10.1097/NMC.0000000000000388.
    [32]
    GRAMA A, BLAGA L, NICOLESCU A, et al. Novel mutation in GALT gene in galactosemia patient with group B streptococcus meningitis and acute liver failure[J]. Medicina (Kaunas), 2019, 55(4): 91. DOI: 10.3390/medicina55040091.
    [33]
    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[J]. Mol Genet Metab, 2018, 123(4): 428-432. DOI: 10.1016/j.ymgme.2018.02.016.
    [34]
    DI DATO F, SPADARELLA S, PUOTI MG, et al. Daily fructose traces intake and liver injury in children with hereditary fructose intolerance[J]. Nutrients, 2019, 11(10): 2397. DOI: 10.3390/nu11102397.
    [35]
    WASSERSTEIN MP, DESNICK RJ, SCHUCHMAN EH, et al. The natural history of type B Niemann-Pick disease: Results from a 10-year longitudinal study[J]. Pediatrics, 2004, 114(6): e672-e677. DOI: 10.1542/peds.2004-0887.
    [36]
    DIAZ GA, JONES SA, SCARPA M, et al. One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency[J]. Genet Med, 2021, 23(8): 1543-1550. DOI: 10.1038/s41436-021-01156-3.
    [37]
    PINEDA M, WALTERFANG M, PATTERSON MC. Miglustat in Niemann-Pick disease type C patients: A review[J]. Orphanet J Rare Dis, 2018, 13(1): 140. DOI: 10.1186/s13023-018-0844-0.
    [38]
    PATTERSON MC, GARVER WS, GIUGLIANI R, et al. Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study[J]. J Inherit Metab Dis, 2020, 43(5): 1060-1069. DOI: 10.1002/jimd.12245.
    [39]
    ODAIB AA, SHNEIDER BL, BENNETT MJ, et al. A defect in the transport of long-chain fatty acids associated with acute liver failure[J]. N Engl J Med, 1998, 339(24): 1752-1757. DOI: 10.1056/NEJM199812103392405.
    [40]
    WAJNER M, AMARAL AU. Mitochondrial dysfunction in fatty acid oxidation disorders: Insights from human and animal studies[J]. Biosci Rep, 2015, 36(1): e00281. DOI: 10.1042/BSR20150240.
    [41]
    MERRITT JL 2nd, MACLEOD E, JURECKA A, et al. Clinical manifestations and management of fatty acid oxidation disorders[J]. Rev Endocr Metab Disord, 2020, 21(4): 479-493. DOI: 10.1007/s11154-020-09568-3.
    [42]
    YAMADA K, TAKETANI T. Management and diagnosis of mitochondrial fatty acid oxidation disorders: Focus on very-long-chain acyl-CoA dehydrogenase deficiency[J]. J Hum Genet, 2019, 64(2): 73-85. DOI: 10.1038/s10038-018-0527-7.
  • 加载中

Catalog

    通讯作者: 陈斌, bchen63@163.com
    • 1. 

      沈阳化工大学材料科学与工程学院 沈阳 110142

    1. 本站搜索
    2. 百度学术搜索
    3. 万方数据库搜索
    4. CNKI搜索

    Article Metrics

    Article views (820) PDF downloads(70) Cited by()
    Proportional views
    Related

    /

    DownLoad:  Full-Size Img  PowerPoint
    Return
    Return