Genetic sequencing and genotype-phenotype co-relation in Indian children presenting with hereditary intrahepatic cholestasis

Hereditary recurrent intrahepatic cholestasis from birth.

Obstructive jaundice in the first months of life is a fairly frequent phenomenon. Approximately twothirds of these infants have atresia of the hepatic ducts, and about two-thirds of the remaining can be classified as 'neonatal hepatitis', 'giant cell hepatitis', or 'thick bile syndrome' (Craig and Landing, 1952; de Toni and Romano, 1962; Gellis, 1961). 'Thick bile syndrome' is defined as 'neona...

Genetic basis of progressive familial intrahepatic cholestasis.

oo~~ssrvn familial intrahepatic cholestasis (PFIC), P originally known as Byler disease, was first described in an Amish kindred (1,2). It is an inherited disorder of childhood in which cholestasis of hepatocellular origin often presents in the neonatal period or the first year of life and leads to death from liver failure at ages ranging from infancy to adolescence. Cholangiograms show normal ...

Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.

Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are heterogeneous red blood cell (RBC) membrane disorders that result from mutations in the genes encoding α-spectrin (SPTA1), β-spectrin (SPTB), or protein 4.1R (EPB41). The resulting defects alter the horizontal cytoskeletal associations and affect RBC membrane stability and deformability causing shortened RBC survival. Th...

Genotype – phenotype relationship in Hereditary Hemorrhagic Telangiectasia

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterised by vascular malformations in multiple organ systems, resulting in mucocutaneous telangiectases and arteriovenous malformations predominantly in the lungs (pulmonary arteriovenous malformation; PAVM), brain (cerebral arteriovenous malformation; CAVM), and liver (hepatic arteriovenous malformation; HAVM)....