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Original Article
Infection
Serum copper and ceruloplasmin levels as biomarkers reflecting liver fibrosis in children with autoimmune hepatitis
Salma Abdel Megeed Nagi, Mai Ibrahim Elashmawy, Amany E. Elashkar, Mohamed Zaeim Hafez, Ashraf A.E. Emara, Osama Mohammad Abdelhay, Albayoumi A.B. Fouda, Mohamed AbdelAziz Doma, Ahmad Mohamed Awad, Ahmed Mohammed Saba, Hesham Abdelrahman Ahmed, Ahmed Mohamed Gad Allah, Fatma Mahmoud Abdelraheem, Mohamed A. Gad, Mohamad A. Soliman, Tamer I. Abdalrhman, Khaled Hassaan Awad, Ismael A.K.M. El-lebedy, Mostafa M. Abdelnaser, Mohammed Z. Abdel Kareem, Marwa Fekry Hassan, Shymaa Sobhy Menshawy Khalifa
Clin Exp Pediatr. 2025;68(11):909-920.   Published online August 6, 2025
· A total of 159 children with autoimmune hepatitis (AIH; 60.3% female, 13.2% type 2 AIH) were identified. According to a global study, the estimated annual incidence of AIH in Egypt is 1.28 cases per 100,000 inhabitant-years.
· No studies to date have examined the serum levels of copper or ceruloplasmin in children with AIH. Therefore, here we investigated whether serum copper and ceruloplasmin levels are useful for identifying liver fibrosis in children with AIH.
· Serum copper and ceruloplasmin levels may provide important information for the identification of advanced liver fibrosis in children with AIH.
Development of a Screening Kit for Early Diagnosis and Prevention of Wilson`s Disease
Sihoun Hahn, Soo-Young Lee, Young-Ju Jang, Soon-Nam Kim, Ha-Cheol Shin, Sun-Young Park, Joo-Hyoung Kang, Eun-Sun You
Clin Exp Pediatr. 2001;44(12):1374-1380.   Published online December 15, 2001
Purpose : Wilson`s disease is an autosomal recessive disorder characterized by copper accumulation in the liver, brain, and other organs due to defected copper metabolism. The incidence of Wilson`s disease is approximately one in 30,000 population in the world, more common than phenylketonuria in Korea. The early diagnosis or presymptomatic diagnosis of Wilson`s disease is critical in order for them...
Identification of Novel Mutations and Three Most Common Mutations in the Human ATP7B Gene of Korean Patients with Wilson Disease
Han-Wook Yoo, Gu-Hwan Kim, Ji-Won Chung, Chang-Yeon Lee, Kyung-Mo Kim
Clin Exp Pediatr. 2001;44(5):569-576.   Published online May 15, 2001
Purpose : Wilson disease is an autosomal recessive disorder of copper transport, which is probably the most common inherited metabolic disorder in Korea. It is characterized by defective biliary excretion of copper and impairment in the corporation of copper into ceruloplasmin. In Wilson disease, synthesis of a defective copper transporting enzyme leads to the accumulation of copper in the liver, brain and kidney. The...
Long-term Clinical Follow-up of Korean Children with Wilson Disease; Twenty Years` Experience
Jin Soo Moon, Jae Sung Ko, Jeong Kee Seo
Clin Exp Pediatr. 2001;44(2):127-138.   Published online February 15, 2001
Purpose : To investigate the clinical features of long-term follow-up, and the treatment responses in Korean children with Wilson disease(WD). Methods : The clinical data from ninety-two children with WD, diagnosed at Seoul National University Hospital from 1976 to 1999, were reviewed. Mean duration of follow-up was 5¡¾4.5 years. We analysed the patient's records based on the clinical manifestations, laboratory findings,...
Renal Problems in Wilson Disease
Il Soo Ha, Jun Ho Lee, Yeon Ho Choe, Hae Il Cheong, Sei Won Yang, Young Yull Koh, Jeong Kee Seo, Yong Choi
Clin Exp Pediatr. 1999;42(6):817-824.   Published online June 15, 1999
Purpose : Wilson disease is a hereditary metabolic disorder characterized by an accumulation of copper in tissues which sometimes results in renal problems. This study was performed to evaluate the prevalences of the renal problems in Wilson disease and related risk factors. Methods : In 31 patients with Wilson disease, we looked for renal problems by history taking, physical examination...
A Genetic Linkage Study of Wilson Disease in Korean Families
Jong Won Kim, Sang In Kim, Jeong Kee Seo
Clin Exp Pediatr. 1993;36(11):1596-1612.   Published online November 15, 1993
Wilson disease gene (WND) locus is presumed to be located in chromosome 13q. There are studies on the clinical heterogeneities and variations between ethnic groups in Europe, North America, and the Middle East and it requites the study of another ethnic group, especially Asian population for the confirmation. This study was an analysis of restriction fragment length polymorphism of the Wilson's...
Case Report
A Case of Wilson Disease Associated with Hemolytic Anemia and Cholelithiasis
Kyeong Cheol Yoon, Yong Hwa Shin, Ho Seek Ahn, Sung Won Kim
Clin Exp Pediatr. 1992;35(11):1573-1577.   Published online November 15, 1992
Wilson disease is an autosomal recessive abnormality in the hepatic excretion of copper that results in toxic accumulation of the metal in liver, brain, and other organs. Hemolytic anemia frequently complicates the courses of Wilson disease and may be the initial clinical feature of Wilson disease. Since hemolysis may be preceding the onset of hepatic manifestation and Kayser-Fleischer ring is...
Original Article
A Case of Wilson Disease.
Cheol Soo Dan, Sang Hoon Lee, Woo Yeong Chung, Soon Yong Lee, Jong Eun Joo, Hye Jae Cho
Clin Exp Pediatr. 1988;31(11):1502-1508.   Published online November 30, 1988
We have experienced a case of Wilson disease manifesting chronic hepatitis. The patient, 10-year-old boy, has shown elevated SGOT and SGPT levels since 5 years ago, but no other specific symptoms of Wilson disease. His younger sister died of fulminant hepatitis (absence of hepatitis A or B markers) at the age of eight. The diagnosis was based on the characteristic laboratory data and the...
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