Rare Pediatrics News
5 Facts you should know about
Byler disease
1
Byler Disease, also known as Progressive Familial Intrahepatic Cholestasis type 1 (PFIC1), is a rare, inherited liver disorder characterized by impaired bile secretion, leading to cholestasis and progressive liver disease
2
It typically manifests in infancy or early childhood with symptoms such as jaundice, severe itching (pruritus), poor weight gain, and eventually, liver fibrosis and cirrhosis
3
Byler Disease is caused by mutations in the ATP8B1 gene, affecting the function of a liver cell protein involved in bile transport, resulting in the accumulation of toxic bile acids
4
Diagnosis involves clinical evaluation, liver function tests showing elevated bile acids, genetic testing to identify mutations in the ATP8B1 gene, and sometimes liver biopsy for confirmation
5
Treatment aims to manage symptoms and complications, including medications to alleviate pruritus, fat-soluble vitamin supplementation, and in severe cases, liver transplantation
Rare Pediatrics News
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