Progressive familial intrahepatic cholestasis type 4: a case report.
J Med Case Rep
; 18(1): 434, 2024 Sep 07.
Article
en En
| MEDLINE
| ID: mdl-39243110
ABSTRACT
BACKGROUND:
Progressive familial intrahepatic cholestasis is an autosomal recessive genetic disorder that manifests primarily with jaundice and pruritus and can progresses from persistent cholestasis to cirrhosis and late childhood liver failure. Classically, progressive familial intrahepatic cholestasis is classified into three subtypes 1, 2, and 3 and results from a defect in a biliary protein responsible for bile formation and circulation in the liver. In the last decade and with the increased use of genetic testing, more types have been known. CASE PRESENTATION A 6-month-old Afrocentric boy presented with progressive jaundice and pruritus that started since the age of 2 months. He was thoroughly investigated to be finally diagnosed as progressive familial intrahepatic cholestasis type 4. A low-fat diet, ursodeoxycholic acid, fat-soluble vitamins, and cholestyramine were started. He showed initial improvement then had refractory pruritus and impaired quality of life. He underwent surgical biliary diversion at the age of 1 year with marked improvement of manifestations.CONCLUSION:
Owing to the increased technology of genetic testing, more clinical subtypes of progressive familial intrahepatic cholestasis were diagnosed other than the classical three types. Surgical management using biliary diversion could be beneficial and delays or may even obviate the need for liver transplantation.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Prurito
/
Ácido Ursodesoxicólico
/
Colestasis Intrahepática
Límite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
J Med Case Rep
Año:
2024
Tipo del documento:
Article
País de afiliación:
Egipto
Pais de publicación:
Reino Unido