Download PDF
Dtsch Med Wochenschr 2010; 135(49): 2481-2488
DOI: 10.1055/s-0030-1269419
Übersicht | Review article
Gastroenterologie, Hepatologie
© Georg Thieme Verlag KG Stuttgart · New York

Stoffwechselerkrankungen der Leber

Teil 1: Hämochromatose, Morbus Wilson, α1-Antitrypsin-Mangel, Morbus GaucherMetabolic disorders of the liverPart 1: hemochromatosis, M. Wilson, α1-antitrypsin-deficiency, M. GaucherA. Erhardt1 , M. G. Donner1 , D. Häussinger1
  • 1Klinik für Gastroenterologie, Hepatologie und Infektiologie
Further Information

Publication History

eingereicht: 14.5.2010

akzeptiert: 19.7.2010

Publication Date:
30 November 2010 (online)

Also available at
    Permissions and Reprints

Schlüsselwörter

Leber - Stoffwechsel - Genetik

Keywords

liver - metabolism - genetic

Literatur

  • 1 Andrews N C. Understanding heme transport.  N Engl J Med. 2005;  353 2508-2509
    Google Scholar
  • 2 Andriopoulos Jr B, Corradini E, Xia Y. et al . BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism.  Nat Genet. 2009;  41 482-487
    Google Scholar
  • 3 Arbeitsgemeinschaft. Leitlinien zum Morbus Gaucher. wwwaps-med.de. 2006
    Google Scholar
  • 4 Beutler E. Gaucher disease: multiple lessons from a single gene disorder.  Acta Paediatr Suppl. 2006;  95 103-109
    Google Scholar
  • 5 Carrell R W, Lomas D A. Alpha1-antitrypsin deficiency – a model for conformational diseases.  N Engl J Med. 2002;  346 45-53
    Google Scholar
  • 6 Darlington G J, Astrin K H, Muirhead S P, Desnick R J, Smith M. Assignment of human alpha 1-antitrypsin to chromosome 14 by somatic cell hybrid analysis.  Proceedings of the National Academy of Sciences of the United States of America. 1982;  79 870-873
    Google Scholar
  • 7 de Fost M, Vom Dahl S, Weverling G J. et al . Increased incidence of cancer in adult Gaucher disease in Western Europe.  Blood Cells Mol Dis. 2006;  36 53-58
    Google Scholar
  • 8 Demirkiran M, Jankovic J, Lewis R A, Cox D W. Neurologic presentation of Wilson disease without Kayser-Fleischer rings.  Neurology. 1996;  46 1040-1043
    Google Scholar
  • 9 EASL . EASL Clinical Practice Guidelines for HFE hemochromatosis.  J Hepatol. 2010;  DOI: 10.1016/j.,jhep.2010.1003.1001
    Google Scholar
  • 10 Elstein D, Klutstein M W, Lahad A, Abrahamov A, Hadas-Halpern I, Zimran A. Echocardiographic assessment of pulmonary hypertension in Gaucher’s disease.  Lancet. 1998;  351 1544-1546
    Google Scholar
  • 11 Erhardt A, Häussinger D. Physiologie und Pathophysiologie des Eisenstoffwechsels. In: Erhardt A, Häussinger D Hämochromatosen – Hämosiderosen. Bremen: Unimed; 2006: 22-34
    Google Scholar
  • 12 Erhardt A, Niederau C, Osman Y, Hassan M, Häussinger D. Nachweis des HFE-Polymorphismus bei deutschen Patienten mit hereditärer Hämochromatose.  Dtsch Med Wochenschr. 1999;  124 1448-1452
    Google Scholar
  • 13 Erikson A. Gaucher disease – Norrbottnian type (III). Neuropaediatric and neurobiological aspects of clinical patterns and treatment.  Acta Paediatr Scand. 1986;  326 1-42
    Google Scholar
  • 14 Fairbanks K D, Tavill A S. Liver disease in alpha 1-antitrypsin deficiency: a review.  Am J Gastroenterol. 2008;  103 2136-2141; quiz 2142
    Google Scholar
  • 15 Feder J N, Gnirke A, Thomas W. et al . A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.  Nat Genet. 1996;  13 399-408
    Google Scholar
  • 16 Ferenci P, Czlonkowska A, Merle U. et al . Late-onset Wilson’s disease.  Gastroenterology. 2007;  132 1294-1298
    Google Scholar
  • 17 Ganz T. Iron homeostasis: fitting the puzzle pieces together.  Cell Metab. 2008;  7 288-290
    Google Scholar
  • 18 Hughes D, Cappellini M D, Berger M. et al . Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease.  Br J Haematol. 2007;  138 676-686
    Google Scholar
  • 19 Huster D, Purnat T, Burkhead J. et al . High copper selectively alters lipid metabolism and cell cycle machinery in the mouse model of Wilson disease.  J Biol Chem. 2007;  282 8343-8355
    Google Scholar
  • 20 Kemmer N, Kaiser T, Zacharias V, Neff G W. Alpha-1-antitrypsin deficiency: outcomes after liver transplantation.  Transplant Proc. 2008;  40 1492-1494
    Google Scholar
  • 21 Kenney S, Cox D. Sequence variation database for the Wilson disease copper transporter, ATP7B.  Hum Mutat. 2007;  28 1171-1177
    Google Scholar
  • 22 Korman J, Volenberg I, Balko J. et al . Screening for Wilson disease in acute liver failure: a comparison of currently available diagnostic tests.  Hepatology. 2008;  38 1167-1174
    Google Scholar
  • 23 Kulaksiz H, Gehrke S G, Janetzko A. et al . Pro-hepcidin: expression and cell specific localisation in the liver and its regulation in hereditary haemochromatosis, chronic renal insufficiency, and renal anaemia.  Gut. 2004;  53 735-743
    Google Scholar
  • 24 Lachmann R H, Wight D G, Lomas D J. et al . Massive hepatic fibrosis in Gaucher’s disease: clinico-pathological and radiological features.  QJM. 2000;  93 237-244
    Google Scholar
  • 25 Lang P, Schenck M, Nicolay J. et al . Liver cell death and anemia in Wilson disease involve acid sphingomyelinase and ceramide.  Nat Med. 2007;  13 164-170
    Google Scholar
  • 26 Larsson C. Natural history and life expectancy in severe alpha1-antitrypsin deficiency, Pi Z.  Acta Medica Scandinavica. 1978;  204 345-351
    Google Scholar
  • 27 Mak C M, Lam C W. Diagnosis of Wilson’s disease: a comprehensive review.  Critical reviews in clinical laboratory sciences. 2008;  45 263-290
    Google Scholar
  • 28 Michelakakis H, Spanou C, Kondyli A. et al . Plasma tumor necrosis factor-a (TNF-a) levels in Gaucher disease.  Biochim Biophys Acta. 1996;  1317 219-222
    Google Scholar
  • 29 Morrison E D, Brandhagen D J, Phatak P D. et al . Serum ferritin level predicts advanced hepatic fibrosis among U.S. patients with phenotypic hemochromatosis.  Ann Intern Med. 2003;  138 627-633
    Google Scholar
  • 30 Nemeth E, Tuttle M, Powelson J. et al . Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization.  Science. 2004;  306 2090-2093
    Google Scholar
  • 31 Nicolas G, Bennoun M, Porteu A. et al . Severe iron deficiency anemia in transgenic mice expressing liver hepcidin.  Proc Natl Acad Sci U S A. 2002;  99 4596-4601
    Google Scholar
  • 32 Niederau C, Fischer R, Purschel A, Stremmel W, Häussinger D, Strohmeyer G. Long-term survival in patients with hereditary hemochromatosis.  Gastroenterology. 1996;  110 1107-1119
    Google Scholar
  • 33 Niederau C, Fischer R, Sonnenberg A, Stremmel W, Trampisch H J, Strohmeyer G. Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis.  N Engl J Med. 1985;  313 1256-1262
    Google Scholar
  • 34 Nielsen P, Engelhardt R, Duerken M, Janka G E, Fischer R. Using SQUID biomagnetic liver susceptometry in the treatment of thalassemia and other iron loading diseases.  Transfus Sci. 2000;  23 257-258
    Google Scholar
  • 35 Nyfeler B, Reiterer V, Wendeler M W. et al . Identification of ERGIC-53 as an intracellular transport receptor of alpha1-antitrypsin.  J Cell Biol. 2008;  180 705-712
    Google Scholar
  • 36 Pietrangelo A. Non-HFE hemochromatosis.  Hepatology. 2004;  39 21-29
    Google Scholar
  • 37 Pietrangelo A, Brissot P, Bonkovsky H L. A phase I/II, open- label, dose-escalation trial using the once-daily oral chelator deferasirox to treat iorn overload in HFE-related hereditary hemochromatosis. EASL. Copenhagen; 2009: A219
    Google Scholar
  • 38 Roberts E A, Schilsky M L. Diagnosis and treatement of Wilson Disease: an update.  Hepatology. 2008;  47 2089-2111
    Google Scholar
  • 39 Schwarz M, Erhardt A. Seltene Erkrankungen des Eisenstoffwechsels. In: Erhardt A, Häussinger D Hämochromatosen – Hämosiderosen. Bremen: Unimed; 2006
    Google Scholar
  • 40 Silvestri L, Pagani A, Nai A, De Domenico I, Kaplan J, Camaschella C. The serine protease matriptase-2 (TMPRSS6) inhibits hepcidin activation by cleaving membrane hemojuvelin.  Cell Metab. 2008;  8 502-511
    Google Scholar
  • 41 Sims K B, Pastores G M, Weinreb N J. et al . Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study.  Clin Genet. 2008;  73 430-440
    Google Scholar
  • 42 St Pierre T G, Clark P R, Chua-anusorn W. et al . Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance.  Blood. 2005;  105 855-861
    Google Scholar
  • 43 Steindl P, Ferenci P, Dienes H P. et al . Wilson’s disease in patients presenting with liver disease: a diagnostic challenge.  Gastroenterology. 1997;  113 212-218
    Google Scholar
  • 44 Stremmel W, Meyerrose K W, Niederau C, Hefter H, Kreuzpaintner G, Strohmeyer G. Wilson disease: clinical presentation, treatment, and survival.  Ann Intern Med. 1991;  115 720-726
    Google Scholar
  • 45 Sveger T, Eriksson S. The liver in adolescents with alpha 1-antitrypsin deficiency.  Hepatology. 1995;  22 514-517
    Google Scholar
  • 46 Tanno T, Bhanu N, Oneal P. et al . High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin.  Nat Genet. 2007;  13 1020-1021
    Google Scholar
  • 47 Vellodi A, Foo Y, Cole T J. Evaluation of three biochemical markers in the monitoring of Gaucher disease.  J Inherit Metab Dis. 2005;  28 585-592
    Google Scholar
  • 48 Vellodi A, Tylki-Szymanska A, Davies E H. et al . Management of neuronopathic Gaucher disease: revised recommendations.  Journal of Inherited Metabolic Disease. 2009;  32 660-664
    Google Scholar
  • 49 Walshe J M, Cox D W. Effect of treatment of Wilson’s disease on natural history of haemochromatosis.  Lancet. 1998;  352 112-113
    Google Scholar
  • 50 Weinreb N J, Charrow J, Andersson H C. et al . Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry.  Am J Med. 2002;  113 112-119
    Google Scholar
  • 51 Wenstrup R J, Roca-Espiau M, Weinreb N J, Bembi B. Skeletal aspects of Gaucher disease: a review.  Br J Radiol. 2002;  75 Suppl 1 A2-12
    Google Scholar
  • 52 Yoshino M, Watanabe Y, Tokunaga Y. et al . Roles of specific cytokines in bone remodeling and hematopoiesis in Gaucher disease.  Pediatr Int. 2007;  49 959-965
    Google Scholar
  • 53 Schmidt P J, Toran P T, Gianetti A M, Bjorkman P J, Andrews N C. The transferrin receptor modulates HFE-dependent regulation of hepcidin expression.  Cell Metab . 2008;  7 205-214
    Google Scholar
  • 54 Hidvegi T, Ewing M, Hale P, Dippold C, Beckett C, Kemp C, Maurice N, Mukherjee A, Goldbach C, Watkins S, Michalopoulos G, Perlmutter D H. An Autophagy-enhancing drug promotes degradation of mutant alpha1-antitrypsin Z and reduces hepatic fibrosis.  Science. 2010;  329 229-232
    Google Scholar
  • 55 Kaushal S, Annamali M, Blomenkamp K, Rudnick D, Halloran D, Brunt E M, Teckmann J H. Rapamycin reduces intrahepatic alpha-1-antitrypsin mutant Z protein polymers and liver injury in a mouse model.  Exp Biol Med. 2010;  235 700-709
    Google Scholar

Prof. Dr. Dieter Häussinger

Klinik für Gastroenterologie, Hepatologie und Infektiologie
Universitätsklinikum der Heinrich-Heine-Universität Düsseldorf

Moorenstr. 5

40225 Düsseldorf

Phone: 0211-811-6330

Fax: 0211-8118952

Email: haeussin@uni-duesseldorf.de

      >