Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease
Status PubMed-not-MEDLINE Jazyk angličtina Země Spojené státy americké Médium electronic-ecollection
Typ dokumentu úvodníky
PubMed
41551006
PubMed Central
PMC12809085
DOI
10.1016/j.gimo.2025.103481
PII: S2949-7744(25)01520-1
Knihovny.cz E-zdroje
College of Medicine and Health Sciences United Arab Emirates University Al Ain United Arab Emirates
Department of Cardiovascular Medicine Tohoku University Graduate School of Medicine Sendai Japan
Division of Medical Genetics University of Versailles Montigny France
Division of Nephrology Department of Medicine Dalhousie University Halifax NS Canada
Emory University School of Medicine Atlanta GA USA
Fabry International Network Greece
Gazi University Faculty of Medicine Ankara Türkiye
Genetic Unit Pediatric Department Qatif Central Hospital Qatif Saudi Arabia
Hebrew University Hadassah School of Medicine Shaare Zedek Medical Center Jerusalem Israel
Multigen Genetic Diseases Diagnosis Center Izmir Türkiye
Neurology Department SPINE FUNDATION Buenos Aires Argentina
Neurology Unit St Bassiano Hospital Bassano del Grappa Italy
Reference Center of Lysosomal Storage Disorders Hospital Senhora da Oliveira Guimaraes Portugal
Referrence Centre for Fabry Disease AOUP P Giaccone University Hospital Palermo Italy
Service of Nephrology Department of Internal Medicine Federal University of Paraná Curitiba Brazil
Taipei Veterans General Hospital and National Yang Ming Chiao Tung University Taipei Taiwan
Tareev Clinic of Internal Diseases Sechenov 1st Moscow State Medical University Moscow Russia
University Institute of Health Sciences H A Barceló Foundation Buenos Aires Argentina
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Germain D.P. Fabry disease. Orphanet J Rare Dis. 2010;5:30. doi: 10.1186/1750-1172-5-30. PubMed DOI PMC
Germain D.P., Moiseev S., Suárez-Obando F., et al. The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease. Mol Genet Genomic Med. 2021;9(5) doi: 10.1002/mgg3.1666. PubMed DOI PMC
Wang R.Y., Lelis A., Mirocha J., Wilcox W.R. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med. 2007;9(1):34–45. doi: 10.1097/GIM.0b013e31802d8321. PubMed DOI
Ortiz A., Germain D.P., Desnick R.J., et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416–427. doi: 10.1016/j.ymgme.2018.02.014. PubMed DOI
Echevarria L., Benistan K., Toussaint A., et al. X-chromosome inactivation in female patients with Fabry disease. Clin Genet. 2016;89(1):44–54. doi: 10.1111/cge.12613. PubMed DOI
Moreno-Martinez D., Aguiar P., Auray-Blais C., et al. Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus. Mol Genet Metab. 2021;132(4):234–243. doi: 10.1016/j.ymgme.2021.02.001. PubMed DOI
Gragnaniello V., Burlina A.P., Polo G., et al. Newborn screening for Fabry disease in Northeastern Italy: results of five years of experience. Biomolecules. 2021;11(7):951. doi: 10.3390/biom11070951. PubMed DOI PMC
Chien Y.H., Hwu W.L., Lee N.C. Newborn screening: Taiwanese experience. Ann Transl Med. 2019;7(13):281. doi: 10.21037/atm.2019.05.47. PubMed DOI PMC
Sawada T., Kido J., Sugawara K., et al. Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening. Mol Genet Genomic Med. 2020;8(11) doi: 10.1002/mgg3.1502. PubMed DOI PMC
Yoshida S., Kido J., Sawada T., et al. Fabry disease screening in high-risk populations in Japan: a nationwide study. Orphanet J Rare Dis. 2020;15(1):220. doi: 10.1186/s13023-020-01494-6. PubMed DOI PMC
Sawada T., Kido J., Tsukimura T., et al. Evaluation of GLA variants detected in newborn screening for Fabry disease using biomarker analysis. Mol Genet Metab Rep. 2025;44 doi: 10.1016/j.ymgmr.2025.101245. PubMed DOI PMC
Azevedo O., Gal A., Faria R., et al. Founder effect of Fabry disease due to p.F113L mutation: clinical profile of a late-onset phenotype. Mol Genet Metab. 2020;129(2):150–160. doi: 10.1016/j.ymgme.2019.07.012. PubMed DOI
Kirkilionis A.J., Riddell D.C., Spence M.W., Fenwick R.G. Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone. J Med Genet. 1991;28(4):232–240. doi: 10.1136/jmg.28.4.232. PubMed DOI PMC
West M.L., Dyack S., Riddell C., Lemoine K., Camfield C.S., Camfield P.R. A Nova Scotia kindred with Fabry disease. Acta Paediatr. 2002;91(s439):116. doi: 10.1111/j.1651-2227.2002.tb03123.x. 116. DOI
Germain D.P., Jurca-Simina I.E. In: Neurometabolic Hereditary Diseases of Adults. Burlina A.P., editor. Springer International Publishing; 2018. Principles of human genetics and Mendelian inheritance; pp. 1–28. DOI
Germain D.P., Al Murshedi F., Al Jasmi F., et al. Facilitating intrafamily communication to enable earlier diagnosis of Fabry disease in relatives: expert opinion. Mol Genet Metab. 2024;141(2) doi: 10.1016/j.ymgme.2023.107838. DOI
Körver S., Geurtsen G.J., Hollak C.E.M., et al. Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and pain. Orphanet J Rare Dis. 2020;15(1):28. doi: 10.1186/s13023-020-1307-y. PubMed DOI PMC
Munro M., Cook A.M., Bogart K.R. An inductive qualitative content analysis of stigma experienced by people with rare diseases. Psychol Health. 2022;37(8):948–963. doi: 10.1080/08870446.2021.1912344. PubMed DOI
Bogart K.R. Disability is a social identity. It’s time for therapy to affirm it. Dev Med Child Neurol. 2023;65(3):300–301. doi: 10.1111/dmcn.15412. PubMed DOI
Biddell C.B., Waters A.R., Angove R.S.M., et al. Facing financial barriers to healthcare: patient-informed adaptation of a conceptual framework for adults with a history of cancer. Front Psychol. 2023;14 doi: 10.3389/fpsyg.2023.1178517. PubMed DOI PMC
Downes M.J., Mervin M.C., Byrnes J.M., Scuffham P.A. Telephone consultations for general practice: a systematic review. Syst Rev. 2017;6(1):128. doi: 10.1186/s13643-017-0529-0. PubMed DOI PMC
Germain D.P., Gruson D., Malcles M., Garcelon N. Applying artificial intelligence to rare diseases: a literature review highlighting lessons from Fabry disease. Orphanet J Rare Dis. 2025;20(1):186. doi: 10.1186/s13023-025-03655-x. PubMed DOI PMC
Drossman D.A. 2012 David Sun lecture: helping your patient by helping yourself—how to improve the patient-physician relationship by optimizing communication skills. Am J Gastroenterol. 2013;108(4):521–528. PubMed