Susanne N Weber,Hermann E Wasmuth
Susanne N Weber
Liver fibrosis is the sequel of chronic liver diseases and the main reason for increased mortality in affected patients. The extent of liver fibrosis displays great interindividual variation, even after controlling for exogenous factors. Th...
Robert Bals
Robert Bals
Alpha-1-antitrypsin deficiency (AATD) is a rare genetic disorder associated with the development of liver and lung disease. AAT is a 52-kD glycoprotein, produced mainly by hepatocytes and secreted into the blood. Agglomeration of the AAT-pr...
Stephan vom Dahl,Eugen Mengel
Stephan vom Dahl
In adults, elevated transaminases and hepatomegaly, often mild, with moderate to massive idiopathic splenomegaly might hint to a lysosomal storage disease (LSD). In most of these cases, hepatosplenomegaly does not eventually lead to cirrhos...
Ertan Mayatepek,Björn Hoffmann,Thomas Meissner
Ertan Mayatepek
Glycogen storage diseases (GSD) and inborn errors of galactose and fructose metabolism are the most common representatives of inborn errors of carbohydrate metabolism. In this review the focus is set on the current knowledge about clinical ...
Marko Siegesmund,Anne-Moniek van Tuyll van Serooskerken,Pamela Poblete-Gutiérrez et al.
Marko Siegesmund et al.
The porphyrias are predominantly inherited metabolic disorders, which result from a specific deficiency of one of the eight enzymes along the pathway of haem biosynthesis. Historically, they have been classified into hepatic and erythropoie...
Ulrike Herrmann,Gerd Dockter,Frank Lammert
Ulrike Herrmann
Liver disease is increasingly common in cystic fibrosis (CF). As new therapeutic options emerge, life expectancy increases and common hepatobiliary manifestations impact on quality of life and survival of CF patients. Hepatobiliary abnormal...
Joost P H Drenth,Melissa Chrispijn,Carsten Bergmann
Joost P H Drenth
Fibrocystic diseases affecting the liver and often also other organs like the kidneys are a clinically and genetically heterogeneous group of disorders that may present in utero or remain clinically silent into late adulthood. During recent...
Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome) [0.03%]
高胆红素血症综合征（吉尔伯特-梅伦格拉赫、克里格勒-奈贾尔、杜宾-约翰逊和Rotor综合征）
Christian P Strassburg
Christian P Strassburg
Hyperbilirubinemia is an important clinical sign that often indicates severe hepatobiliary disease of different etiologies. Inherited non-haemolytichyperbilirubinemic conditions include Dubin-Johnson, Rotor, and Gilbert-Meulengracht syndrom...
Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy [0.03%]
家族性肝内胆汁淤积：进行性家族性肝内胆汁淤积、良性复发性肝内胆汁淤积和妊娠期肝内胆汁淤积
Wendy L van der Woerd,Saskia W C van Mil,Janneke M Stapelbroek et al.
Wendy L van der Woerd et al.
Progressive familial intrahepatic cholestasis (PFIC) type 1, 2 and 3 are due to mutations in ATP8B1, ABCB11 and ABCB4, respectively. Each of these genes encodes a hepatocanalicular transporter, which is essential for the proper formation of...
Wilson disease [0.03%]
威尔森病
Dominik Huster
Dominik Huster
Wilson disease is an inherited autosomal recessive disorder of copper balance leading to hepatic damage and neurological disturbance of variable degree. The defective gene, ATP7B, encodes a hepatic copper-transporting protein, which plays a...