Hereditary Liver Diseases

Year 1978, Volume: 31 Issue: 3 , 724 - 738 , 30.09.1978

Nihat Sipahi

https://izlik.org/JA32FB64RJ

Abstract

Hepatik fibropoliestik hastalık, genetik olarak farklı olan çeşitli formlar alabilir. Çocukluk formları ayrı otozomal resesif özellikler olarak, yetişkin formu ise otozomal deminant özellik olarak kalıtılır.
Genetik faktörler hem viral hepatite yatkınlıkta hem de özellikle Avustralya antijenemisinin kronik persistansında önemli olabilir. Ayrıca kronik alkolik karaciğer hasarının gelişiminde de açıkça önemlidirler.
Hemokromatozis ve bazı porfiri formları hariç, siroza neden olan doğuştan metabolizma hatalarının çoğu otozomal resesif özellik olarak davranır. Alfa 1 antitripsin eksikliği, neonatal hepatit ve sirozun yeni ve potansiyel olarak önemli bir nedenidir.
Hiperbilurubinemileri sınıflandırmak henüz zordur ve birçok durumda kalıtım biçimleri belirsizliğini korumaktadır.
Safra atrezisi ve neonatal hepatit, kromozomal anormalliklerle (17-18 trizomi) ilişkili olabilir.
Bening tekrarlayan kolestasis muhtemelen otozomal resesif bir durumdur, oysa gebelik kolestasis sendromu baskın bir durum olabilir. Otozomal resesif özellikler gösteren ve kötü prognozlu kolestasis'in nadir nedenleri vardır

Keywords

karaciğer , kolestasis , metabolik hastalıklar

Kalıtsal Karaciğer Hastalıkları

https://izlik.org/JA32FB64RJ

Abstract

Hepatic fibropolyeystic disease may take several form all genetically distinet. The childhood forms are inherited as separate autosomal recessisive traits, the adult form as an autosomal deminant trait.
Genetic factors may be important both in susceptibility to viral hepatitis and also more particularly, in chronic persistenc of Australia antigenemia. They ara also clearly important in the devolopmant of chronic alcoholic liver demage is less well
Most of the inborn errors of metabolism causing cirrhosis, with the exception of haemochromatosis and some forms of porphyria, behave as autosomal recessive trait. Alfa 1 antitrypsin deficiency is a new, potentially important cause of neonatal hepatitis and cirrhosis.
Hyperbilurubinemias are diffucult to classify as yet and the modes of inheritance in many instances remain unclear.
Biliary atresia and neonatal hepatitis may both be associated with chromosomal abnormalities (17-18 trisomy).
Bening recurrent cholestasis is probably an autosomal recessive condition whereas the cholestasis of pregnancy syndrome mey be a dominant condition. There are rare causes of cholestasis behaving as autosomal recessive traits and with poor prognosis

Keywords

liver , cholestasis , metabolic diseases

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