Experience with cascade screening: A comprehensive family pedigree analysis of two index patients with Fabry disease.

Autor: Kisa PT; Department of Pediatrics, Division of Inherited Metabolic Diseases, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey., Hismi BO; Department of Pediatrics, Division of Inherited Metabolic Diseases, Marmara University Faculty of Medicine, Istanbul, Turkey., Kocabey M; Department of Medical Genetics, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey., Gulten ZA; Department of Pediatrics, Division of Inherited Metabolic Diseases, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey., Huddam B; Department of Nephrology, Department of Internal Medicine, Mugla Sitki Kocman University, Faculty of Medicine, Mugla, Turkey., Ekinci S; Department of Cardiology, Health Sciences University Izmir Tepecik Education and Research Hospital, Izmir, Turkey., Bozkaya E; Department of Nephrology, Denizli State Hospital, Denizli, Turkey., Akar H; Department of Internal Medicine, Health Sciences University Izmir Tepecik Education and Research Hospital, Izmir, Turkey., Pekuz OKK; Department of Pediatrics, Division of Inherited Metabolic Diseases, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey., Aydogan A; Department of Pediatrics, Division of Inherited Metabolic Diseases, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey., Arslan N; Department of Pediatrics, Division of Inherited Metabolic Diseases, Dokuz Eylul University Faculty of Medicine, Izmir, Turkey.; Izmir Biomedicine and Genome Center, Izmir, Turkey.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63552. Date of Electronic Publication: 2024 Feb 19.
DOI: 10.1002/ajmg.a.63552
Abstrakt: The wide range of clinical symptoms observed in patients with Fabry disease (FD) often leads to delays in diagnosis and initiation of treatment. Delayed initiation of therapy may result in end-organ damage, such as chronic renal failure, hypertrophic cardiomyopathy, and stroke. Although some tools are available to identify undiagnosed patients, new comprehensive screening methods are needed. In this study, the outcomes of the cascade screening applied to three index cases with FD from 2 familes were investigated. In the pedigree analysis, 280 individuals were included; out of them, 131 individuals underwent genetic testing and cascade screening for FD. During the screening program, a total of 45 individuals were diagnosed, with a diagnostic ratio of 1:15. The average age at diagnosis for all individuals was 30.9 ± 17.7 years, and %25 were pediatric cases (mean age 9.5 ± 5.9 years). Thirty affected relatives were diagnosed from the two index cases in Family 1 and 15 individuals were diagnosed from one index case in Family 2. There were 13 consanguineous marriages observed among 2 pedigres, in two both spouses  were affected, leading to two homozygous affected daughters in one couple. In regions where there is a high prevalence of consanguineous marriages, implementing the cascade screening approach to identify all individuals at risk can be beneficial for patients with FD, specifically women and children.
(© 2024 Wiley Periodicals LLC.)
Databáze: MEDLINE
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