Assessment of Diagnostic Value of Serum Ceruloplasmin for Wilson’s Disease in Children

2021 ◽  
Author(s):  
Xinshuo Lu ◽  
Simin Li ◽  
Wen Zhang ◽  
Yunting Lin ◽  
Zhikun Lu ◽  
...  
Keyword(s):  
Gender Difference ◽  
Roc Curve ◽  
Wilson’S Disease ◽  
Diagnostic Value ◽  
Wilson's Disease ◽  
Genotypic Difference ◽  
Healthy Children ◽  
Cutoff Value ◽  
Serum Ceruloplasmin ◽  
And Gender

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 for WD in children. Methods: Serum ceruloplasmin were measured in 317 WD patients, 21 heterozygotes, 372 healthy control children and 154 non-WD patients. 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 was mildly low in the infants younger than 6 months, and then presented around 26–33 mg/dl from 6 months to 15 years. Few (8.1%) of healthy children had serum ceruloplasmin < 20 mg/dL. Serum ceruloplasmin was 5.7 ± 4.7 mg/dl in WD patients, 25.6 ± 5.9 mg/dl in heterozygous carriers. Only 1.9% of WD patients had serum ceruloplasmin > 20 mg/dL. Serum ceruloplasmin had gender difference, higher in healthy boys than healthy girls, and also higher in asymptomatic WD boys than asymptomatic WD girls (p < 0.01, p < 0.05). Serum ceruloplasmin presented genotypic difference. WD patients with R778L homozygotes exhibited lower level of serum ceruloplasmin than WD patients without R778L (p < 0.05). The ROC curve revealed that serum ceruloplasmin, 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 a reliable diagnostic criteria for WD in children. Gender and genotypic difference of serum ceruloplasmin should be considered. The cutoff value of serum ceruloplasmin < 16.8 mg/dL may provide the highest accuracy for diagnosis of WD in children.

Suspected Wilson's Disease Presenting with Normal Serum Ceruloplasmin Levels

2017 ◽  
Vol 09 (01) ◽  
Author(s):  
Atul Singh Rajput ◽  
Gunjan Singh Dalal ◽  
Jyoti Jain
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Normal Serum ◽  
Serum Ceruloplasmin

scholarly journals INITIAL ASSESSMENT FINDINGS IN PATIENTS WITH CONFIRMED WILSON’S DISEASE

2021 ◽  
Vol 5 (2) ◽  
pp. 161-167
Author(s):  
O. A. Zhigaltsova-Kuchinskaya ◽  
◽  
N. N. Silivontchik ◽  
S. A. Likhachev ◽  
I. V. Pleshko ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Molecular Genetic ◽  
Wilson's Disease ◽  
Clinical Suspicion ◽  
Initial Assessment ◽  
Serum Free ◽  
Copper Excretion ◽  
Serum Ceruloplasmin ◽  
Urinary Copper ◽  
Urinary Copper Excretion

Bacground. The optimization of Wilson’s disease (WD) diagnosis is one of the most disputable problem. Objective. The retrospective study of initial assessment findings under clinical suspicion for WD in 102 patients with the confirmed diagnosis. Material and methods. The results of laboratory tests and Kaiser-Fleischer rings (KF rings) identification under clinical suspicion for WD in 102 patients with the confirmed diagnosis. Results. At stage I, 17 patients (16.7%; 95% CI 10.7–25.1) were defined as having clinically definitive WD based on the combination of low serum ceruloplasmin and KF rings, 4 patients (3.9%; 95% CI 1.5–9.7) – based on the drop of ceruloplasmin level. After stage II, involving 24-hour urinary copper excretion evaluation, the rate of definitive diagnosis of WD reached 24,5% (95% CI 17.2 33.7). After stage III (genotyping for carriage of ATP7B gene mutations) – 56.9% (95% CI 47.2–66.0). Serum free copper increase was found in 54.9% (95% CI 41.4 67.7) of cases. Conclusions. Under clinical suspicion for WD, initial structured ophthalmological, laboratory and molecular-genetic assessment ensured the diagnosis of WD only in 56.9% (95% CI 56.9; 47.2–66.1). Frequent detection of serum free copper increase (54.9%, 95% CI 41.4 67.7) allows to use this test due to its greater availability as compared with 24-hour urinary copper excretion evaluation in WD diagnostics.

scholarly journals The diagnostic value of homocysteine for the occurrence and acute progression of chronic obstructive pulmonary disease

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Bing Wei ◽  
Tian Tian ◽  
Yugeng Liu ◽  
Chunsheng Li
Keyword(s):  
Chronic Obstructive Pulmonary Disease ◽  
Correlation Analysis ◽  
Roc Curve ◽  
Diagnostic Value ◽  
Control Group ◽  
Chronic Obstructive ◽  
Obstructive Pulmonary Disease ◽  
Cutoff Value ◽  
Copd Patients ◽  
Gold Grade

Abstract Background This study aimed to evaluate whether the Homocysteine (Hcy) level was elevated in chronic obstructive pulmonary disease (COPD) patients and its correlation with the occurrence and acute progression of COPD. Methods From November 2014 to November 2015, COPD patients were enrolled from Beijing Chao-yang Hospital, and the the biological and clinical data were collected. These patients were tested in the non-acute exacerbation period and the acute exacerbation period, so they were defined as AECOPD group and Non-AECOPD group. Besides, 50 healthy subjects were recruited and defined as control group. Total plasma Hcy levels (antibodies-online, USA) were determined by enzyme-linked immunosorbent assay. Correlation analysis was used to analyze the correlation between serum Hcy level and ventilatory function. Using ROC curve, the diagnostic value of Hcy for the occurrence and acute progression of COPD was explored. Results In this study, we found that Hcy levels in the Non-AECOPD group or the AECOPD group were significantly higher than those in the control group (P < 0.001). Meanwhile, compared with the Non-AECOPD group, the Hcy level in the AECOPD group was significantly higher (P < 0.001). In addition, according to the classification of GOLD grade, there was significant difference in the Hcy level among different GOLD grade groups (P < 0.001). The correlation analysis showed that in the AECOPD group and the Non-AECOPD group, Hcy levels presented a negative correlation with FEV1(r < 0). Meanwhile, FEV1% was also negatively correlated with Hcy level (r < 0). ROC curve analysis showed that when the cutoff value was set to 10.8 μg/ml, the specificity, sensitivity and AUC were the best, which were 0.980, 0.800, and 0.945, respectively. Besides, our results showed that when the cutoff value was set to 14.0 μg / ml, the specificity, sensitivity and AUC were the best, which were 0.846, 0.680, and 0.802, respectively. In addition, compared with the prediction of acute progression of COPD, when Hcy level predicted the occurrence of COPD, its specificity (0.980 vs. 0.846, P < 0.001) and sensitivity (0.800 vs. 0.680, P < 0.001) were significantly higher. Conclusion Hcy level is positively correlated with the severity of COPD patients, which has predictive value for the occurrence of COPD and acute progression.

Diagnostic value of histochemical stains for copper in Wilson's disease

1998 ◽  
Vol 28 ◽  
pp. 134
Author(s):  
L. Pilloni ◽  
S. Lecca ◽  
P. Van Eyken ◽  
L. Demelia ◽  
G. Pilleri ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Diagnostic Value ◽  
Wilson's Disease

Screening for Wilson's disease in patients with liver diseases by serum ceruloplasmin

1997 ◽  
Vol 27 (2) ◽  
pp. 358-362 ◽  
Author(s):  
Edmund Cauza ◽  
Theresia Maier-Dobersberger ◽  
Claudia Polli ◽  
Klaus Kaserer ◽  
Ludwig Kramer ◽  
...  
Keyword(s):  
Liver Diseases ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Serum Ceruloplasmin

scholarly journals Bipolar Disorder and Wilson’s Disease: A Case Report

2015 ◽  
Vol 3 (2) ◽  
pp. 50-52 ◽  
Author(s):  
S Bhagat ◽  
H Nepal ◽  
A K Verma
Keyword(s):  
Bipolar Disorder ◽  
Case Report ◽  
Wilson’S Disease ◽  
Bipolar Depression ◽  
Wilson's Disease ◽  
Serum Ceruloplasmin ◽  
Urinary Copper ◽  
Low Serum

Wilson’s disease is an uncommon inherited disorder characterized by low serum ceruloplasmin levels, hypercupriuria and Kayser-Fleischer rings. Here we describe the case of a young boy who presented with symptoms of bipolar depression along with bilateral hand tremors. He was started with Quetiapine but symptoms did not improve. Investigations revealed cirrhotic changes of liver, low serum ceruloplasmin levels, presence of Kayser-Fleischer rings. The diagnosis of Wilson’s disease was confirmed by high 24hr. urinary copper levels. Bipolar symptoms improved after 7 months of initiation of oral penicillamine treatment.J Psychiatric Association of Nepal Vol .3, No.2, 2014, pp: 50-52DOI: http://dx.doi.org/10.3126/jpan.v3i2.12399

scholarly journals Wilson’s Disease in an Elderly Patient

1995 ◽  
Vol 9 (2) ◽  
pp. 78-80 ◽  
Author(s):  
Maziar Badii ◽  
Henry Wong ◽  
Urs P Steinbrecher ◽  
Hugh J Freeman
Keyword(s):  
Elderly Patient ◽  
Liver Disease ◽  
Chronic Liver Disease ◽  
Wilson’S Disease ◽  
The Elderly ◽  
Wilson's Disease ◽  
Chronic Liver ◽  
Elderly Age ◽  
Serum Ceruloplasmin ◽  
Ceruloplasmin Level

A 65-year-old man with Fanconi’s syndrome was investigated for the cause of chronic liver disease. Wilson’s disease was diagnosed based on the detection of bilateral Kayser-Fleischer rings, a low serum ceruloplasmin level, increased urine copper excretion and positive histochemical stains of his liver for copper. This case is unusual because of the patient’s elderly age at the time of diagnosis and the absence of neurological changes due to Wilson’s disease in spite of advanced hepatic disease and the presence of Kayser-Fleischer rings. Even in the elderly patient, Wilson’s disease should be considered a possible cause of chronic liver disease.

Sign in / Sign up

Export Citation Format

Share Document