Low-γ-GT-familial-intrahepatic-cholestasis

Low-γ-GT familial intrahepatic cholestasis
Specialty	Hepatology, Pediatrics
Symptoms	Jaundice, Pruritus, Steatorrhea
Complications	Cirrhosis, Liver failure
Usual onset	Infancy or early childhood
Duration	Long-term
Causes	Genetic mutations
Risk factors	Family history of liver disease
Diagnostic method	Liver function tests, genetic testing
Differential diagnosis	Progressive familial intrahepatic cholestasis, Alagille syndrome, Biliary atresia
Treatment	Ursodeoxycholic acid, liver transplantation
Prognosis	Variable
Frequency	Rare

Low-γ-GT familial intrahepatic cholestasis is a rare genetic disorder characterized by impaired bile formation and transport within the liver, leading to cholestasis without elevated gamma-glutamyltransferase (γ-GT) levels. This condition is one of several types of familial intrahepatic cholestasis, and it primarily affects infants and young children.

Symptoms and Signs

The primary symptoms of Low-γ-GT familial intrahepatic cholestasis include jaundice (yellowing of the skin and eyes), pruritus (itching), and steatorrhea (fatty stools). These symptoms result from the accumulation of bile acids in the liver and bloodstream, which can also lead to fat-soluble vitamin deficiencies.

Causes

The disorder is caused by mutations in genes involved in bile acid transport and secretion. The specific genes implicated vary among affected individuals, but mutations lead to dysfunction in the bile salt export pump (BSEP) or other components of the bile secretion pathway.

Diagnosis

Diagnosis of Low-γ-GT familial intrahepatic cholestasis is based on clinical evaluation, biochemical tests showing normal or low levels of γ-GT in the presence of cholestasis, and the exclusion of other causes of liver disease. Genetic testing can confirm the diagnosis by identifying mutations in the relevant genes.

Treatment

Treatment options are limited. Ursodeoxycholic acid may be used to improve bile flow and relieve symptoms. In severe cases, liver transplantation may be considered. Management also includes supportive care such as vitamin supplementation and nutritional support.

Prognosis

The prognosis for individuals with Low-γ-GT familial intrahepatic cholestasis varies. Some may experience mild symptoms and have a normal life expectancy, while others may develop serious complications like cirrhosis and liver failure.

See also

• Cholestasis
• Liver transplantation
• Genetic testing