遗传代谢性肝病的临床特征及诊断思路

彭姗姗; 杨永峰

doi:10.3969/j.issn.1001-5256.2019.08.002

遗传代谢性肝病的临床特征及诊断思路

DOI: 10.3969/j.issn.1001-5256.2019.08.002

南京中医药大学附属南京医院南京市第二医院肝病科

基金项目:

江苏省科技厅临床专项(BL2013004)；

详细信息

中图分类号: R575
计量
- 文章访问数: 1871
- HTML全文浏览量: 43
- PDF下载量: 568
- 被引次数: 0
出版历程
- 收稿日期: 2019-05-02
- 出版日期: 2019-08-20

Clinical features and diagnosis of inherited metabolic liver disease

Department of Hepatology, Nanjing Hospital Affiliated to Nanjing University of Chinese Medicine & The Second Hospital of Nanjing

Research funding:

摘要

摘要: 遗传代谢性肝病病因复杂,种类多样,临床表现无特异性,诊断困难,容易漏诊、误诊,需结合患者症状、体征、实验室检查、影像学检查、肝穿刺病理、基因检测等做出正确的临床诊断,为早期治疗提供依据。因此,从临床中发现线索对于诊断该病有着重要的作用,现对遗传代谢性肝病的临床线索及临床诊断思路进行总结。
- 遗传代谢性肝病 /
- 体征和症状 /
- 诊断
Abstract: Inherited metabolic liver disease has complex etiologies and various types, and its clinical manifestations lack specificity, which may lead to missed diagnosis and misdiagnosis. A clinical diagnosis should be given based on symptoms, signs, laboratory examination, imaging findings, liver biopsy, and gene detection, in order to provide a basis for early treatment. Therefore, clues from clinical examination play an important role in the diagnosis of this disease. This article summarizes the clinical clues and diagnostic ideas of inherited metabolic liver disease.
- metabolic liver disease /
- signs and symptoms /
- diagnosis

HTML全文

参考文献(29)

[1] ZHANG YN, XU Y, JIANG C, et al. Diagnosis and treatment of inherited metabolic liver disease[J]. J Clin Hepatol, 2019, 35 (4) :921-924. (in Chinese) 张亚南, 许影, 蒋畅, 等.遗传代谢性肝病的诊治[J].临床肝胆病杂志, 2019, 35 (4) :921-924.

[2] KIM JS, KIM KM, OH SH, et al. Liver transplantation for metabolic liver disease:Experience at a living donor dominant liver transplantation center[J]. Pediatr Gastroenterol Hepatol Nutr, 2015, 18 (1) :48-54.

[3] ONNERHAG K, DREJA K, NILSSON PM, et al. Increased mortality in non-alcoholic fatty liver disease with chronic kidney disease is explained by metabolic comorbidities[J]. Clin Res Hepatol Gastroenterol, 2019.[Epub ahead of print]

[4] AHN AL, CHOI JK, KIM MN, et al. Non-alcoholic fatty liver disease and chronic kidney disease in Koreans aged 50 years or older[J]. Korean J Fam Med, 2013, 34 (3) :199-205.

[5] TARGHER G, CHONCHOL M, ZOPPINI G, et al. Risk of chronic kidney disease in patients with non-alcoholic fatty liver disease:Is there a link?[J]. J Hepatol, 2011, 54 (5) :1020-1029.

[6] ALAM S, SOOD V. Metabolic liver disease:When to suspect and how to diagnose?[J]. Indian J Pediatr, 2016, 83 (11) :1321-1333.

[7] ROY A, SAMANTA T, PURKAIT R, et al. Etiology, clinical spectrum and outcome of metabolic liver diseases in children[J]. J Coll Physicians Surg Pak, 2013, 23 (3) :194-198.

[8] YAMAGUCHI K, WAKIMIZU R, KUBOTA M. Difficulties in daily life and associated factors, and qol of children with inherited metabolic disease and their parents in Japan:A literature review[J]. JIMD Rep, 2017, 33:1-10.

[9] BRYSON TE, ANGLIN CM, BRIDGES PH, et al. Nucleasemediated gene therapies for inherited metabolic diseases of the liver[J]. Yale J Biol Med, 2017, 90 (4) :553-566.

[10] KOSHY A, RAMASWAMY K, CORREA M, et al. Glycogen storage disease:Report of 17 cases from southern India[J].Indian J Gastroenterol, 2006, 25 (4) :182-184.

[11] ZHANG ZH, LIN WX, DENG M, et al. Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) [J]. PLo S One, 2014, 9:e89267.

[12] PANT M, OSHIMA K. Cholesteryl ester storage disease:An underdiagnosed cause of cirrhosis in adults[J]. Ann Diagn Pathol, 2017, 31:66-70.

[13] NICOLAOU M, ANDRESS EJ, ZOLNERCIKS JK, et al. Canalicular ABC transporters and liver disease[J]. J Pathol, 2012, 226 (2) :300-315.

[14] JOSHI D, GUPTA N, SAMYN M, et al. The management of childhood liver diseases in adulthood[J]. J Hepatol, 2017, 66 (3) :631-644.

[15] YU H, XIE XB. Current perspectives on the etiology, diagnosis, and treatment of pediatric acute liver failure[J]. J ClinHepatol, 2012, 28 (12) :899-901. (in Chinese) 俞蕙, 谢新宝.儿童急性肝衰竭的病因及诊治[J].临床肝胆病杂志, 2012, 28 (12) :899-901.

[16] DEVICTOR D, TISSIERES P, DURAND P, et al. Acute liver failure in neonates, infants and children[J]. Expert Rev Gastroenterol Hepatol, 2011, 5 (6) :717-729.

[17] SQUIRES RJ, SHNEIDER BL, BUCUVALAS J, et al. Acute liver failure in children:The first 348 patients in the pediatric acute liver failure study group[J]. J Pediatr, 2006, 148 (5) :652-658.

[18] DHAWAN A. Etiology and prognosis of acute liver failure in children[J]. Liver Transpl, 2008, 14 (Suppl 2) :s80-s84.

[19] SATHE KP, NAGRAL A. Metabolic liver disease in developing world with special reference to Indian children-A review[J].Apollo Med, 2015, 12 (1) :22-31.

[20] ARNON R, KERKAR N, DAVIS MK, et al. Liver transplantation in children with metabolic diseases:The studies of pediatric liver transplantation experience[J]. Pediatr Transplant, 2010, 14 (6) :796-805.

[21] STEVENSON T, MILLAN MT, WAYMAN K, et al. Long-term outcome following pediatric liver transplantation for metabolic disorders[J]. Pediatric Transplant, 2010, 14 (2) :268-275.

[22] LI D, LIN Y, HUANG Y, et al. Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis[J]. Prenat Diagn, 2018, 38 (3) :779-787.

[23] SCHADY DA, FINEGOLD MJ. Contemporary evaluation of the pediatric liver biopsy[J]. Gastroenterol Clin North Am, 2017, 46 (2) :233-252.

[24] YF Y. Atlas of liver pathology[M]. Changsha:Central-South University Publishing Group, 2018:52-75. (in Chinese) 杨永峰.肝脏病理学图解[M].长沙:中南大学出版社, 2018:52-75.

[25] YANG YF, XIONG QF. Histopathological features and diagnostic consideration of genetic metabolic liver diseases[J].Chin J Hepatol, 2018, 26 (12) :885-888. (in Chinese) 杨永峰, 熊清芳.遗传代谢性肝病的组织病理学特征和诊断思路[J].中华肝脏病杂志, 2018, 26 (12) :885-888.

[26] WASKOWICZ LR, ZHOU J, LANDAU DJ, et al. Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia[J]. Hum Mol Genet, 2019, 28 (1) :143-154.

[27] ADAMS DR, ENG CM. Next-generation sequencing to diagnose suspected genetic disorders[J]. N Engl J Med, 2019, 380 (2) :201.

[28] NG SB, BUCKINGHAM KJ, LEE C, et al. Exome sequencing identifies the cause of a mendeliandisorder[J]. Nat Genet, 2010, 42 (1) :30-35.

[29] TANG W, MAKUUCHI M. Intractable and rare diseases research[J]. Biosci Trends, 2012, 6 (2) :48-51.

施引文献

资源附件(0)

访问统计