Assessment of the diagnostic value of serum ceruloplasmin for Wilson’s disease in children
Abstract Background Serum ceruloplasmin is one of the major diagnostic parameters for Wilson’s disease (WD). Age and gender difference of serum ceruloplasmin remain controversy. This study aims to assess diagnostic value of serum ceruloplasmin level for WD in children up to age of 15 years. Methods...
| Main Authors: | , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-03-01
|
| Series: | BMC Gastroenterology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12876-022-02186-0 |
| _version_ | 1818446118126616576 |
|---|---|
| author | Xinshuo Lu Simin Li Wen Zhang Yunting Lin Zhikun Lu Yanna Cai Xueying Su Yongxian Shao Zongcai Liu Huiying Sheng Yonglan Huang Li Liu Chunhua Zeng |
| author_facet | Xinshuo Lu Simin Li Wen Zhang Yunting Lin Zhikun Lu Yanna Cai Xueying Su Yongxian Shao Zongcai Liu Huiying Sheng Yonglan Huang Li Liu Chunhua Zeng |
| author_sort | Xinshuo Lu |
| collection | DOAJ |
| description | Abstract Background Serum ceruloplasmin is one of the major diagnostic parameters for Wilson’s disease (WD). Age and gender difference of serum ceruloplasmin remain controversy. This study aims to assess diagnostic value of serum ceruloplasmin level for WD in children up to age of 15 years. Methods Serum ceruloplasmin levels were measured in 317 WD patients, 21 heterozygotes, 372 healthy control children and 154 non-WD patients with other liver diseases. Receiver operating characteristic (ROC) curve was used to determine the diagnostic accuracy of serum ceruloplasmin for WD in children. Results Among healthy controls, serum ceruloplasmin level was slightly low in the infants younger than 6 months, and then maintained from 26 to 33 mg/dl after age of 6 months. A total of 8.1% of healthy children had levels of serum ceruloplasmin < 20 mg/dL. Serum ceruloplasmin level was 5.7 ± 4.7 mg/dl in WD patients, and 25.6 ± 5.9 mg/dl in heterozygous carriers. Only 1.9% of WD patients had serum ceruloplasmin levels > 20 mg/dL. Serum ceruloplasmin levels had gender difference, being higher in healthy boys than healthy girls, and higher in asymptomatic WD boys than asymptomatic WD girls (p < 0.01, p < 0.05). Serum ceruloplasmin levels also presented genotypic difference. WD patients with R778L homozygotes exhibited lower levels of serum ceruloplasmin than the patients without R778L (p < 0.05). The ROC curve revealed that serum ceruloplasmin level, at a cutoff value of 16.8 mg/dL, had the highest AUC value (0.990) with a sensitivity of 95.9% and a specificity of 93.6%. Conclusions Serum ceruloplasmin is one of sensitive diagnostic biomarkers for WD in children. Gender and genotypic difference of serum ceruloplasmin level should be considered. The cutoff value of serum ceruloplasmin level < 16.8 mg/dL may provide the highest accuracy for diagnosis of WD in children. |
| first_indexed | 2024-12-14T19:42:38Z |
| format | Article |
| id | doaj.art-7d33b8e632c34ab0afd4d762e8918add |
| institution | Directory Open Access Journal |
| issn | 1471-230X |
| language | English |
| last_indexed | 2024-12-14T19:42:38Z |
| publishDate | 2022-03-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Gastroenterology |
| spelling | doaj.art-7d33b8e632c34ab0afd4d762e8918add2022-12-21T22:49:39ZengBMCBMC Gastroenterology1471-230X2022-03-012211910.1186/s12876-022-02186-0Assessment of the diagnostic value of serum ceruloplasmin for Wilson’s disease in childrenXinshuo Lu0Simin Li1Wen Zhang2Yunting Lin3Zhikun Lu4Yanna Cai5Xueying Su6Yongxian Shao7Zongcai Liu8Huiying Sheng9Yonglan Huang10Li Liu11Chunhua Zeng12Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical UniversityDepartment of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical UniversityDepartment of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical UniversityDepartment of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical UniversityDepartment of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical UniversityDepartment of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical UniversityDepartment of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical UniversityDepartment of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical UniversityDepartment of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical UniversityDepartment of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical UniversityDepartment of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical UniversityDepartment of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical UniversityDepartment of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical UniversityAbstract Background Serum ceruloplasmin is one of the major diagnostic parameters for Wilson’s disease (WD). Age and gender difference of serum ceruloplasmin remain controversy. This study aims to assess diagnostic value of serum ceruloplasmin level for WD in children up to age of 15 years. Methods Serum ceruloplasmin levels were measured in 317 WD patients, 21 heterozygotes, 372 healthy control children and 154 non-WD patients with other liver diseases. Receiver operating characteristic (ROC) curve was used to determine the diagnostic accuracy of serum ceruloplasmin for WD in children. Results Among healthy controls, serum ceruloplasmin level was slightly low in the infants younger than 6 months, and then maintained from 26 to 33 mg/dl after age of 6 months. A total of 8.1% of healthy children had levels of serum ceruloplasmin < 20 mg/dL. Serum ceruloplasmin level was 5.7 ± 4.7 mg/dl in WD patients, and 25.6 ± 5.9 mg/dl in heterozygous carriers. Only 1.9% of WD patients had serum ceruloplasmin levels > 20 mg/dL. Serum ceruloplasmin levels had gender difference, being higher in healthy boys than healthy girls, and higher in asymptomatic WD boys than asymptomatic WD girls (p < 0.01, p < 0.05). Serum ceruloplasmin levels also presented genotypic difference. WD patients with R778L homozygotes exhibited lower levels of serum ceruloplasmin than the patients without R778L (p < 0.05). The ROC curve revealed that serum ceruloplasmin level, at a cutoff value of 16.8 mg/dL, had the highest AUC value (0.990) with a sensitivity of 95.9% and a specificity of 93.6%. Conclusions Serum ceruloplasmin is one of sensitive diagnostic biomarkers for WD in children. Gender and genotypic difference of serum ceruloplasmin level should be considered. The cutoff value of serum ceruloplasmin level < 16.8 mg/dL may provide the highest accuracy for diagnosis of WD in children.https://doi.org/10.1186/s12876-022-02186-0CeruloplasminWilson’s diseaseChildrenDiagnosis |
| spellingShingle | Xinshuo Lu Simin Li Wen Zhang Yunting Lin Zhikun Lu Yanna Cai Xueying Su Yongxian Shao Zongcai Liu Huiying Sheng Yonglan Huang Li Liu Chunhua Zeng Assessment of the diagnostic value of serum ceruloplasmin for Wilson’s disease in children BMC Gastroenterology Ceruloplasmin Wilson’s disease Children Diagnosis |
| title | Assessment of the diagnostic value of serum ceruloplasmin for Wilson’s disease in children |
| title_full | Assessment of the diagnostic value of serum ceruloplasmin for Wilson’s disease in children |
| title_fullStr | Assessment of the diagnostic value of serum ceruloplasmin for Wilson’s disease in children |
| title_full_unstemmed | Assessment of the diagnostic value of serum ceruloplasmin for Wilson’s disease in children |
| title_short | Assessment of the diagnostic value of serum ceruloplasmin for Wilson’s disease in children |
| title_sort | assessment of the diagnostic value of serum ceruloplasmin for wilson s disease in children |
| topic | Ceruloplasmin Wilson’s disease Children Diagnosis |
| url | https://doi.org/10.1186/s12876-022-02186-0 |
| work_keys_str_mv | AT xinshuolu assessmentofthediagnosticvalueofserumceruloplasminforwilsonsdiseaseinchildren AT siminli assessmentofthediagnosticvalueofserumceruloplasminforwilsonsdiseaseinchildren AT wenzhang assessmentofthediagnosticvalueofserumceruloplasminforwilsonsdiseaseinchildren AT yuntinglin assessmentofthediagnosticvalueofserumceruloplasminforwilsonsdiseaseinchildren AT zhikunlu assessmentofthediagnosticvalueofserumceruloplasminforwilsonsdiseaseinchildren AT yannacai assessmentofthediagnosticvalueofserumceruloplasminforwilsonsdiseaseinchildren AT xueyingsu assessmentofthediagnosticvalueofserumceruloplasminforwilsonsdiseaseinchildren AT yongxianshao assessmentofthediagnosticvalueofserumceruloplasminforwilsonsdiseaseinchildren AT zongcailiu assessmentofthediagnosticvalueofserumceruloplasminforwilsonsdiseaseinchildren AT huiyingsheng assessmentofthediagnosticvalueofserumceruloplasminforwilsonsdiseaseinchildren AT yonglanhuang assessmentofthediagnosticvalueofserumceruloplasminforwilsonsdiseaseinchildren AT liliu assessmentofthediagnosticvalueofserumceruloplasminforwilsonsdiseaseinchildren AT chunhuazeng assessmentofthediagnosticvalueofserumceruloplasminforwilsonsdiseaseinchildren |