Molecular diagnosis of hereditary canalicular cholestasis and familial hyperbilirubinemias
Authors:
Milan Jirsa
Authors place of work:
Institut klinické a experimentální medicíny Praha, Laboratoř experimentální hepatologie, Pracoviště experimentální medicíny
Published in the journal:
Čas. Lék. čes. 2011; 150: 7-13
Category:
Review Article
Summary
Molecular and differential diagnosis of hereditary canalicular cholestasis and predominantly conjugated jaundice, both characterised by autosomal recessive pattern of inheritance and low prevalence, is described. Classification of the disorders is presented in the introduction. Detailed description of clinical, laboratory and histology findings and typical results of mutation analysis follows. Published and yet unpublished results obtained in the Laboratory of Experimental Hepatology, IKEM, since 2002, are presented at the end.
Key words:
progressive familial intrahepatic cholestasis, recurrent familial intrahepatic cholestasis, intrahepatic cholestasis of pregnancy, Dubin-Johnson syndrome, Rotor syndrome.
Zdroje
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Štítky
Addictology Allergology and clinical immunology Angiology Audiology Clinical biochemistry Dermatology & STDs Paediatric gastroenterology Paediatric surgery Paediatric cardiology Paediatric neurology Paediatric ENT Paediatric psychiatry Paediatric rheumatology Diabetology Pharmacy Vascular surgery Pain management Dental HygienistČlánok vyšiel v časopise
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