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Doctors for Congenital Bile Acid Synthesis Defect in Mandihal, Hubli-Dharwad
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CONGENITAL BILE ACID SYNTHESIS DEFECT
Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.
The clinical presentation is heterogeneous, however, most patients present with features of neonatal cholestasis. Clinical features include hepatomegaly with or without splenomegaly, jaundice, fat and fat-soluble vitamin malabsorption, and mild steatorrhea. In most cases, pruritus is absent. Liver function tests present elevated serum transaminases (AST, ALT), conjugated hyperbilirubinemia, and normal gamma-GT. The liver histology shows inflammation, giant cells, evidence of cholestasis, and variable degrees of liver fibrosis. The clinical course of the early-onset disease is heterogeneous with some patients resolving jaundice and being identified later in life, or with a more fulminant disease that results in death or requires liver transplantation at an early age. The disorder may also present as late-onset chronic cholestasis. In such patients, liver disease is not always evident and patients may have fat-soluble vitamin malabsorption with rickets, corrected by vitamin supplementation, and/or other complications including bleeding diathesis (hematochezia or intracranial bleeding), neuroaxonal dystrophy and night blindness. Children and adolescents may also present with extensive fibrosis and/or cirrhosis.
The disease is caused by a mutation in the gene encoding 3-beta-hydroxy-delta-5-C27 steroid oxidoreductase (HSD3B7, 16p12-p11.2). Transmission is autosomal recessive.
HOW IS CONGENITAL BILE ACID SYNTHESIS DEFECT DIAGNOSED?
Gastroenterologists may order the following diagnosis tests:
• Specific serologic tests
• Liver biopsy
• Laboratory analysis of bile, blood, and urine
• Molecular genetic testing
HOW IS CONGENITAL BILE ACID SYNTHESIS DEFECT TREATED?
The treatment of BASDs is directed toward the specific symptoms that are obvious to each individual. Treatment may require the coordinated efforts of a team of specialists which are Paediatricians, neurologists, liver specialists, nutritionists, and other healthcare professionals. Genetic counselling may be of benefit for affected individuals and their families. Replacement of the missing bile acids and cholic acid replacement therapy is beneficial in many cases. In some cases restoring vitamins A, D, E and K are essential for malabsorption. A liver transplant may be recommended in severe cases along with medications for effective treatment.
DID YOU KNOW?
If left untreated Congenital Bile Acid Synthesis Defect can lead to liver cirrhosis and death in childhood