Portal de Periódicos da CAPES

Neonatal intrahepatic cholestasis with hepatic siderosis and steatosis

1998; Wiley; Volume: 40; Issue: 2 Linguagem: Inglês

10.1111/j.1442-200x.1998.tb01901.x

1442-200X

Yusaku Tazawa, Fujihiko Nishinomiya, Daiki Abukawa, JUNICHIRO AIKAWA, Toshihiro Ohura, Masahiko Tohma, Arata Watanabe, Takashi Suzuki, Goro Takada, Tasuke Konno,

Hemoglobinopathies and Related Disorders

Abstract Neonatal intrahepatic cholestasis is a heterogeneous disease of undetermined cause. There is an unreported subset of idiopathic neonatal intrahepatic cholestasis with an unusual histological combination of hepatic siderosis and macrovesicular steatosis. The patients were a 34‐day‐old female and a 39‐day‐old male with normal birth weights. Their mothers had received oral iron supplement4–6 weeks before delivery. The patients had obstructive jaundice noticed at the well‐baby clinic at 1 month of life. They had high levels of serum galactose and tyrosine, hyperferritinemia. Urinary organic acid and bile acid analyses were negative, and galactose‐1‐phosphate uridyltransferase activity in red cells was normal. Liver biopsies showed diffuse iron deposits and macrovesicular fat. By substituting formula milk with lactose‐free milk, the patients responded, and had normal biochemical tests within 5 months of life. Follow‐up biopsies, at the age of 12 months, showed mild residual fibrosis without iron or fat deposits. They are both well at 3 and 6 years of age, respectively, without biochemical liver dysfunction and neurologic impairment. Prenatal iron‐overload might contribute to the pathogenesis of the disease, but further studies are needed to confirm the assumption.