Pilot study of mass screening for Wilson's disease in Korea

Hahn, Si Houn; Lee, Soo Young; Jang, Young-Ju; Kim, Soon Nam; Shin, Ha Cheol; Park, Sun Young; Han, Hee‐Sung; Yu, Eun Sun; Yoo, Han Wook; Lee, Jin Sung; Chung, Chun Soon; Lee, San Yeon; Lee, Dong Hwan

doi:10.1016/s1096-7192(02)00026-4

Cited by 61 publications

(39 citation statements)

References 12 publications

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“…John estimated that the Wd heterozygous population can be as high as 2% 23 . ohura et al detected two Wd individuals in 2,789 Japanese children between the ages of one and six by testing for ceruloplasmin in dried blood spots using an enzymelinked immunosorbent assay (eliSa) 24 . using a similar approach, hahn detected one Wd individual in 3,667 Korean children of three months to 15-year-old 25 .…”

Section: Discussionmentioning

confidence: 99%

Wilson Disease in the South Chinese Han Population

Cheng¹,

Wang

Hu³

et al. 2014

Can. J. Neurol. Sci.

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Wilson disease (Wd), also known as hepatolenticular degeneration (hld), is an autosomal recessive genetic disorder involving disruption of copper metabolism. Wilson disease is caused by mutations in the ATP7B gene on chromosome 13q14.3 encoding a p-type copper transporting adenosine triphosphate (atp) enzyme. the mutations of ATP7B gene leads to obstacles in bile excretion of copper in the liver and to obstacles in combination of copper with ceruloplasmin. it also causes the emergence of characteristic biochemical changes, including decreased ceruloplasmin (Cp) levels in the serum, increased copper content in the liver, and increased 24-hour urinary copper level. due to excessive deposition of copper in the liver, brain, kidney, cornea, and other tissues and organs, the main clinical ABSTRACT: Purpose: to prospectively investigate the incidence and prevalence of Wilson disease (Wd) in Chinese han population in anhui province, to analyze the genetic mutations in individuals with Wd, and to provide basic epidemiological data regarding Wd in this Chinese han population. Methods: between november 2008 and June 2010, individuals aged from 7 to 75 years were screened for the cornea K-f ring in both eyes using slit lamp examination and random sampling methods based on age stratification and cluster level 1. the participants were from anhui province's hanshan County, Jinzhai County, and lixin County. the clinical manifestations of the brain, liver, kidney, skin, and other organs in each individual were also determined. individuals with positive K-f rings and clinical manifestations indicative of Wd underwent copper biochemistry evaluations, abdominal ultrasound testing, and ATP7B gene mutation screening to confirm or exclude the diagnosis of Wd. Results: of 153,370 individuals investigated in this study, nine were diagnosed with Wd. in these Wd individuals, three cases had neurological symptoms, one has hepatic symptoms, one was hepatic and neurological combined, and the other four cases were presymptomatic. of the eight individuals in whom genetic mutations were detected, seven individuals had mutations in the ATP7B gene. the other individual had no ATP7B gene mutations but her copper biochemical test results met the diagnostic criteria for Wd. the incidence and prevalence of Wd in this population were approximately 1.96/100,000 and 5.87/100,000 respectively. Conclusion: the Chinese han population had a higher average prevalence of Wd than the populations of the united States or europe. Chez ces individus atteints de la MW, trois présentaient des manifestations neurologiques, un présentait des manifestations hépatiques, un présentait des manifestations hépatiques et neurologiques et les quatre autres étaient présymptomatiques. parmi les 8 individus chez qui des mutations génétiques ont été détectées, 7 avaient des mutations du gène atp7b. l'autre individu n'avait pas de mutation du gène atp7b mais ses résultats biochimiques pour le dosage du cuivre rencontraient les critères diagnostiques de la MW. l'incidence et la pr...

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Section: Discussionmentioning

confidence: 99%

Wilson Disease in the South Chinese Han Population

Cheng¹,

Wang

Hu³

et al. 2014

Can. J. Neurol. Sci.

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“…The disease frequency is highly variable, and WD is seen more frequently in Sardinia, China, Japan, and other Asian populations (2)(3)(4)(5)(6)(7)(8)(9). Underdiagnosis of WD is highly likely, especially during the asymptomatic phase and in patients with atypical presentations.…”

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confidence: 99%

Diagnostic Accuracy of Serum Ceruloplasmin in Wilson Disease: Determination of Sensitivity and Specificity by ROC Curve Analysis among ATP7B-Genotyped Subjects

2008

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Background: A serum ceruloplasmin concentration below 0.20 g/L is conventionally considered as one of the major diagnostic criteria for Wilson disease. This decision threshold has not been fully validated for its diagnostic characteristics, however. In this study, we evaluated various decision thresholds of serum ceruloplasmin concentration in the diagnosis of Wilson disease based on genotype-verified Wilson disease patients, carriers, and normal individuals. Methods: Serum ceruloplasmin concentration was measured by a nephelometric method in 57 Wilson disease patients and 71 family members (49 heterozygotes and 22 wild-type homozygotes), a validation group of 25 subjects clinically suspected of Wilson disease, and 690 normal individuals. We performed ROC analysis using Analyze-it software and confirmed the genotypes by direct DNA sequencing of ATP7B. Results: Serum ceruloplasmin concentrations <0.20, 0.14, and 0.10 g/L showed positive predictive values of 48.3%, 100%, and 100%, respectively, and negative predictive values of 98.7%, 97.1%, and 91.9%. In the validation group, a serum ceruloplasmin threshold of 0.14 g/L rendered 100% sensitivity and specificity. Forty of 690 healthy subjects had serum ceruloplasmin concentrations <0.20 g/L; however, these 40 individuals had normal genotypes by DNA sequencing, and none of the 40 had ceruloplasmin concentrations <0.14 g/L. Conclusions: The diagnostic accuracy for Wilson disease using a serum ceruloplasmin concentration of 0.14 g/L as the local decision threshold was better than that using a threshold of 0.20 g/L. We suggest that laboratories providing ceruloplasmin assays determine decision thresholds based on local populations.

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“…Patient samples used for method correlation were the same as in a previous study (7,11 ). Protein extraction, reduction, and digestion were performed in a single step.…”

Section: Sample Preparationmentioning

confidence: 99%

“…In 1 study, the mean (SD) CP concentrations in the DBS of healthy individuals, WD carriers, and WD patients were as 30.5 (9.5) (7 ). It has been shown, however, that the ceruloplasmin concentration is physiologically low in newborns (10 ), prompting the question whether screening for WD in the newborn period would be possible.…”

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confidence: 96%

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Tryptic Peptide Analysis of Ceruloplasmin in Dried Blood Spots Using Liquid Chromatography–Tandem Mass Spectrometry: Application to Newborn Screening

et al. 2008

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BACKGROUND: Newborn screening to identify infants with treatable congenital disorders is carried out worldwide. Recent tandem mass spectrometry (MS/ MS) applications have markedly expanded the ability to screen for Ͼ50 metabolic diseases with a single dried blood spot (DBS). The feature that makes metabolic disorders particularly amenable to screening is the presence of specific small-molecule metabolites. Many treatable disorders such as Wilson disease, however, are characterized by absent or diminished large proteins in plasma or within circulating blood cells, for which there are currently no cost-effective screening methods.

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Pilot study of mass screening for Wilson's disease in Korea

Cited by 61 publications

References 12 publications

Wilson Disease in the South Chinese Han Population

Wilson Disease in the South Chinese Han Population

Diagnostic Accuracy of Serum Ceruloplasmin in Wilson Disease: Determination of Sensitivity and Specificity by ROC Curve Analysis among ATP7B-Genotyped Subjects

Tryptic Peptide Analysis of Ceruloplasmin in Dried Blood Spots Using Liquid Chromatography–Tandem Mass Spectrometry: Application to Newborn Screening

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