10 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 and Wilson disease are not included as they appear in other chapters of this volume. Biliary atresia is omitted because all available evidence does not support any significant genetic association. p] Molecular biological techniques have enabled linkage of several liver cholestatic disorders to chromosomal loci, and further characterization of the canalicular 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 malformation in fibropolycystic disease. p] Whereas the majority of disorders referred to in this chapter present early in life, there are several that are associated with liver failure in the neonatal period, which makes early recognition particularly important. p] Liver transplantation offers a cure for many hereditary disorders affecting the liver but it is not applicable to all.