Wilson's disease presented with fulminating hepatic failure in children.
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Biomedical subjects
Publications and source records attributed to A Yüce.
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Early signs of renal dysfunction in glycogen storage disease type Ia (GSD Ia) are glomerular hyperfiltration and proteinuria. In a non-randomized study, the effect of captopril on the improvement of proteinuria in GSD Ia patients with microalbuminuria was investigated. A positive effect has been shown for the insulin-dependent diabetes mellitus patients. Microalbuminuria was defined as albumin/creatinine ratio (mg/mmol) more than 2.5 in spot urine. Nineteen (52.7%) out of 36 patients had microalbuminuria, and 8 patients received captopril at a dose of 1 mg/kg per day. Microalbuminuria was evaluated periodically during the follow-up period. Of the captopril-treated patients, one was lost to follow-up. In the remaining 7 patients, urinary albumin excretion normalized in 3 patients (42.9%) and decreased at least by 50% in another 3 patients (42.8%) after 6 months of treatment. One patient, who was the oldest, did not have any benefit. In untreated patients, only two patients had a decrease in microalbuminuria of more than 50%. Patients with microalbuminuria had significantly higher blood lactate (p < 0.05) and plasma triglyceride (p < 0.01) concentrations and significantly lower blood bicarbonate concentration (p < 0.05) than those patients without it. Additionally, the patients with microalbuminuria had been diagnosed earlier than those without microalbuminuria (p < 0.05). Patients with microalbuminuria have more severe clinical and laboratory findings than those without microalbuminuria. Captopril at a dose of 1 mg/kg per day seems to be effective in at least 50% of GSD Ia patients with microalbuminuria.
BACKGROUND: Celiac disease is characterized by life-long gluten intolerance. Clinical features of patients with celiac disease are variable. In the present study, clinical, laboratory and histologic features of 104 patients with celiac disease were evaluated. METHODS: Intestinal biopsy and serum antigliadin and anti-endomysium antibodies were used for the diagnosis of patients. Mucosal lesions were classified according to the criteria of Marsh. Antigliadin antibodies were measured with a commercial enzyme-linked immunosorbent assay. Anti-endomysium antibodies were analyzed by indirect immunofluorescence with the use of a section of monkey esophagus. Routine hematological and biochemical analyses and measurement of immunoglobulin levels were undertaken. RESULTS: The mean (+/- SD) patient age was 5.9 +/- 4.1 years (range 10 months-16 years) and the most common symptom was diarrhea (81.7%) followed by abdominal distention, weight loss, anorexia and failure to thrive. Abdominal distention (60.6%), short stature (45.2%) and iron-deficiency anemia were the most common findings. High serum alanine aminotransferase levels were found in 38.3% of patients and these levels became normal after adoption of a gluten-free diet in all but two patients with cirrhosis. Immunoglobulin A, IgG antigliadin antibodies and IgA anti-endomysium antibodies were found in 76, 94 and 90% of patients, respectively. Biopsy of the small intestine revealed that 95, two and seven patients had type 3, type 2, and type 1 lesions, respectively, according to the Marsh classification. There was no statistically significant difference between patients and control groups with regard to antinuclear antibody, antismooth muscle antibody, anti-DNA and anticardiolipin antibodies (IgG and IgM). CONCLUSIONS: Although classical celiac disease was seen in most patients in the present study, clinical variability of the condition should be kept in mind. In particular, patients with uncommon findings, such as short stature, cryptogenic liver disease and iron-deficiency anemia, should also be screened for celiac disease.
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BACKGROUND: Interferon is currently the most useful therapeutic agent for chronic viral hepatitis. The aim of this study was to compare the efficacy of standard and high dosages of interferon in children with chronic hepatitis B virus (HBV) infection. METHODS: Thirty children with chronic hepatitis B infection were randomly assigned to receive 5 million units/m2 body surface area (Group I) or 10 million units/m2 body surface area (Group II) recombinant interferon alpha 2b three times weekly for 6 months. Patients were followed for at least 6 months (range, 6 to 18; median, 9 months) after the end of therapy, by physical and serologic examination every 3 months. RESULTS: Clearance of HBV DNA occurred in 4 (27%) patients from Group I and 9 (60%) patients from Group II at the end of therapy. Hepatitis B e antigen (HbeAg) clearance was 7% (1 patient) and 53% (8 patients) in the two groups, respectively (P < 0.05). HBV DNA was undetectable in 40 and 60% of the children at the 12th month of randomization in Groups I and II, respectively. HBeAg/antibody to HBeAg seroconversion was found in 33% (5 patients) who received standard dosage and 60% (9 patients) in the high dosage group. Sustained complete response (normal alanine aminotransferase, negative HBeAg and HBV DNA at 12th month) was obtained in 5 and 9 patients respectively from groups I and II (P > 0.05). Only mean baseline serum alanine amino-transferase concentrations were predictive of response to interferon. CONCLUSIONS: A 6-month course of interferon alpha 2b in children with chronic HBV disease was well-tolerated by most patients. Sustained suppression of HBV was obtained in 60% of patients with high dosage interferon and in 33% of the patients receiving standard dosage. Although these results were not statistically significant, studies with more patients are needed to ascertain whether high dosage improves the response rate.
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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.
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