OTHER HEREDITARY-DISEASES AND THE LIVER

In this chapter, an abbreviated account is presented on the subject of hereditary diseases and the liver. However, it is incomplete because Alagille syndrome, storage disorders, alpha-1-antitrypsin deficiency a nd Wilson disease are not included as they appear in other chapters of this volume. Biliary atresia is omitted because all available evidenc e does not support any significant genetic association. Molecular biol ogical techniques have enabled linkage of several liver cholestatic di sorders to chromosomal loci, and further characterization of the canal icular bile salt transporter (cBST) will advance our understanding of pathogenetic mechanisms involved in benign and progressive cholestatic syndromes. Disorders that have been treated as separate entities may have common 'roots', exemplified by the concept of the ductal plate ma lformation in fibropolycystic disease. Whereas the majority of disorde rs referred to in this chapter present early in life, there are severa l that are associated with liver failure in the neonatal period, which makes early recognition particularly important. Liver transplantation offers a cure for many hereditary disorders affecting the liver but i t is not applicable to all.