Enfermedad de Wilson en España: validación de fuentes utilizadas por los Registros de Enfermedades Raras

Moreno-Marro, Sandra; Barrachina-Bonet, Laia; Páramo-Rodríguez, Lucía; Alonso-Ferreira, Verónica; Guardiola-Vilarroig, Sandra; Vicente, Esther; García-López, María Teresa; Palomar-Rodríguez, Joaquín A.; Zoni, Ana Clara; Zurriaga, Óscar; Cavero‐Carbonell, Clara

doi:10.1016/j.gaceta.2020.07.011

Cited by 4 publications

(4 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Both strategies resulted in similar high frequencies of mutant alleles which, after applying the Hardy Weinberg equilibrium, predicted that there would be an affected patient in between 1547 and 3140 inhabitants of Gran Canaria, or 32–65 cases per 100,000, a similar prediction to that reported for the island of Sardinia (Table 4). Likewise, the estimated prevalence of affected in the archipelago, based on the number of carriers, was one in 5985 or almost 18 cases per 100,000, much higher that predicted from registries (40), similar to what we found in mainland Spain (15 cases per 100,000 inhabitants), and comparable to the frequencies expected from other populations using similar genetic screening approaches, like the United Kingdom (10), France (11), Korea (14), Japan (15) or a diverse sample represented in the gnomAD database (12,13) (Table 4).…”

Section: Discussionmentioning

confidence: 76%

“…A recent report has evaluated the prevalence of WD in the Spanish population, including the Canary Islands, based on a national registry for rare diseases (40), estimating 20 cases in the islands which, having a population of 2,153,389, represent 1 case in 107,669 or 0.92 cases per 100,000 inhabitants; however, we have recently reported that there are at least 70 patients identified in just one island, Gran Canaria that, with a population of 851,231, would mean a prevalence of 1 case every 12,369 or 8.08 cases per 100,000 inhabitants (9). Because of this discrepancy, we approached a prevalence estimation based on the number of carriers of ATP7B mutations in both the population of the Canary Islands, most especially in Gran Canaria, and mainland Spain, reported as having 1.65 cases per 100,000 (40).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Wilson Disease Prevalence

Lorente-Arencibia

García-Villarreal

González-Montelongo

et al. 2021

J. pediatr. gastroenterol. nutr.

View full text Add to dashboard Cite

Objectives: Diagnosis of Wilson disease (WD) is difficult and, as early detection may prevent all symptoms, it is essential to know the exact prevalence to evaluate the cost-efficacy of a screening program. As the number of WD patients was high in our population, we wished to estimate prevalence by determining the carrier frequency for clinically relevant ATP7B mutations. Methods: To estimate prevalence, screening for the most prevalent mutation was performed in 1661 individuals with ancestry in Gran Canaria, and the frequency of other mutations was estimated from patient records. Alternatively, ATP7B mutations were detected from exomes and genomes from 851 individuals with Canarian ancestry, 236 from Gran Canaria, and a public Spanish exome database. Results: Estimated carrier frequencies in Gran Canaria ranged from 1 in 20 to 28, depending on the method used, resulting in prevalences of 1 case per 1547 to 3140 inhabitants. Alternatively, the estimated affected frequencies were 1 in 5985 to 7980 and 1 in 6278 to 16,510 in the archipelago or mainland Spain respectively. Conclusions: The number of carriers predicts much higher prevalences than reported, suggesting that WD is underdiagnosed; specific mutations may remain unnoticed due to low penetrance or no signs of disease at all; regional prevalence rather than national prevalence should be considered in cost-efficacy models to approach preventive screening in the asymptomatic population and genetic screening strategies will have to deal with the genetic heterogeneity of ATP7B in the general population and in patients.

show abstract

Section: Discussionmentioning

confidence: 76%

Section: Discussionmentioning

confidence: 99%

Wilson Disease Prevalence

Lorente-Arencibia

García-Villarreal

González-Montelongo

et al. 2021

J. pediatr. gastroenterol. nutr.

View full text Add to dashboard Cite

show abstract

“…The discovery of the ATP7B gene [21] and its causal mutations [22] changed approaches to systematizing disease phenotypes. Traditional clinical classifications have been replaced by new ones, which are based on taking into account the heterogeneity of causal mutations in the ATP7B gene, the allelic frequency of which can vary over a wide range in different ethnic and racial groups [23][24][25][26][27][28][29][30][31][32][33][34][35].…”

Section: Classifications Of Hepatolenticular Degenerationmentioning

confidence: 99%

Classification and Clinical Heterogeneity of Hepatolenticular Degeneration

Ovchinnikova,

Vaiman,

Shnayder

et al. 2023

jour

View full text Add to dashboard Cite

Hepatolenticular degeneration (HLD) or Wilson-Konovalov disease (OMIM277900) is a hereditary monogenic autosomal recessive degenerative disease related to metabolic diseases - a category of storage diseases. HLD has been studied for more than 130 years. During this time, more classifications of this disease were proposed. In this review, we systematized all the proposed classifications of HLD. And we noticed, they are based on the following criteria: 1) clinical signs of the disease; 2) the sequence of their appearance as the pathology progresses (with the primary appearance of signs of liver or brain damage); 3) severity of the disease. This review also systematizes data on the clinical picture of HLD.

show abstract

“…В Польше встречаемость ГЛД на 2016 г. составила 1 / 49 000 [13], что позволило рассчитать распространенность ГЛД среди польских детей (2,04 / 100 тыс.). В 2017 г. в общей (дети и взрослые) популяции Франции [14], Финляндии [15] и Испании [16] распространенность ГЛД была намного меньше и колебалась в пределах 1,44-1,65 / 100 тыс. Среди других стран Европы аналогичный показатель был наиболее высок (9,0 / 100 тыс.)…”

Section: результатыunclassified

Prevalence of hepatolenticular degeneration in different countries

Ovchinnikova,

Schneider,

Ovchinnikova

et al. 2023

Klinicist

View full text Add to dashboard Cite

Introduction. Despite modern advances in diagnostic technologies, the problem of Wilson (WD) disease prevalence remains relevant in the world; clinical and scientific interest in epidemiological studies varies in the Russian Federation and in different countries.The aim. To study the prevalence of WD in the population of the Russian Federation and foreign countries at the present stage.Materials and methods. The paper presents an analysis of the results of domestic and foreign epidemiological studies of WD published in the eLibrary, Google Scholar, PubMed, Springer, Scopus, Elsevier, Oxford Press, Clinical Case, Cochrane, Science Direct databases from January 01, 2018 to June 01, 2023 year.Results. In total, 14 epidemiological studies were analyzed. In the countries of North and South America, the prevalence of WD is from 4.1 per 100,000, up to 6.4 per 100,000 and in European countries from 1.44 per 100,000 to 9.0 per 100,000, in Asian countries – from 1.793 per 100,000 to 4.81 per 100,000.Conclusion. Results of epidemiological studies prevalence of WD depended on design and methodology: with using the method of genetic screening of the population for WD, the prevalence rates were much higher and reached 40 per 100,000 in Europe, 19.6 in Asia due to detection of early stages of disease development (asymptomatic forms).

show abstract

Enfermedad de Wilson en España: validación de fuentes utilizadas por los Registros de Enfermedades Raras

Cited by 4 publications

References 20 publications

Wilson Disease Prevalence

Wilson Disease Prevalence

Classification and Clinical Heterogeneity of Hepatolenticular Degeneration

Prevalence of hepatolenticular degeneration in different countries

Contact Info

Product

Resources

About