Autoimmune hepatitis.

Autoimmune hepatitis is one of the causes of chronic progressive liver disease in childhood. Here we report 14 cases with clinical findings, therapeutic management and prognosis, in order to define the course of the disease. Diagnosis of autoimmune hepatitis was done with the presence of at least one of these autoantibodies; antinuclear antibody, smooth muscle antibody, liver-kidney microsomal type 1 antibody, and perinuclear antineutrophilic cytoplasmic antibody. Patients were seen every 3 to 6 months. After doing a complete physical examination, biochemical parameters and autoantibodies determined at each visit. Mean age at diagnosis was 10.9 +/- 2.6 years (range, 7-15.5 years) and female to male ratio was 1:3. Thirteen patients had jaundice and all had high levels of ALT, AST and gammaglobulin. Hepatomegaly was found in 71.4% and splenomegaly in 64.3% of the patients. All patients were classified as type 1 autoimmune hepatitis. Liver biopsies revealed severe active hepatitis with mononuclear cell infiltration in portal areas, piecemeal necrosis. Drug therapy consisted of prednisone (2 mg/kg/day) per oral at the beginning, and addition of azathioprine (1.5 mg/kg/day) per oral at the 3rd-6th month with slow tapering of prednisone in 12 children. Both drugs were started together to two patients. Follow-up period was 30.7 +/- 15.6 months (range, 12-72 months). Sustained normalization of ALT could not be obtained with tapering doses of prednisone alone. Decrease in ALT levels did not correlate with disappearance of serum autoantibodies. None of the patients showed decompensation of liver disease. Azathioprine administration is necessary to decrease prednisone dose and to maintain a sustained normal transaminase values.

Glycogen storage disease type Ia: frequency and clinical course in Turkish children.

The aim of this study was to determine the relative frequency of type Ia in glycogen storage disease (GSD) with prominent liver involvement and to determine its clinical and laboratory findings and prognosis in Turkish children. From 1980 to 1998, 45 out of 100 GSD patients (27 male) with liver involvement had been diagnosed for type Ia. The files were retrospectively evaluated and clinical and laboratory features were documented. In addition to routine laboratory evaluations, urine albumin, calcium excretions, and plasma biotinidase activity were measured. Breast-feeding was continued in all infants. After 6 months of age, uncooked cornstarch was administered to the patients. The relative frequency of type Ia in GSD with liver involvement was 45%. The diagnosis was made in 71% of patients before 2 years of age (median 1 year). Main complaint was abdominal protruding (57.8%), and main physical finding was hepatomegaly (100%). Forty percent of the patients had growth retardation at diagnosis. Among laboratory parameters, hypertriglyceridemia (97.8%) and hypertransaminasemia (95.6%) were the most frequent findings following plasma biotinidase activity, which was elevated in all patients. Microalbuminuria was determined in 52.8% of the patients and hypercalciuria in 23.8%. Histopathological findings of the liver included fibrosis (75.6%), steatosis (37.8%), mosaicism (24.4%) and nuclear hyperglycogenation (15.6%). During follow-up period, the ratio of patients with growth retardation did not change. Transaminases were decreased in 48.7% of the patients. Although triglyceride and cholesterol levels decreased in the majority of the patients, they did not normalise. The prevalence of type Ia in GSD with prominent liver involvement was found higher than the other reports. Microalbuminuria was also higher than the previous reports.

Wilson's disease with hepatic presentation in childhood.

OBJECTIVE: To evaluate clinical, laboratory findings, treatment and long-term follow-up of children with Wilson's disease with hepatic presentation. DESIGN: Retrospective study with a median follow-up period of 9 years. SETTING: University medical center. SUBJECTS: Thirty-four children with hepatic involvement, ranging in age from three to fifteen years, were diagnosed as Wilson's disease over an eighteen year period. METHODS: The diagnosis was based on the presence of family history and Kayser-Fleischer rings, low serum ceruloplasmin levels and increased urinary and hepatic copper concentrations. RESULTS: Four patients had also neurological manifestations. Eight patients were diagnosed as fulminating hepatic failure resulting in death in a few days. The most common symptoms were abdominal distension and abdominal pain. Hepatomegaly was the predominant physical finding and serum transaminases were elevated in most of the patients. Twenty patients had cirrhosis and six had chronic hepatitis histopathologically. All patients with fulminating hepatic failure had hyperbilirubinemia with normal alkaline phosphatase and higher aspartate aminotransferase than alanine aminotransferase. Patients were treated with D-penicillamine and zinc sulphate. Three patients underwent liver transplantation. Four more patients besides patients with fulminating hepatic failure died due to end stage liver disease. Twenty-two patients were followed for median 9 years. Four patients with poor compliance progressed to decompensated cirrhosis and the others were stable. CONCLUSIONS: Liver disease with unknown origin with positive family history and parental consanguinity should imply Wilson's disease strongly.