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JOURNAL ARTICLE
Yun Sun, Xian-Wei Guan, Yan-Yun Wang, Dong-Yang Hong, Zhi-Lei Zhang, Ya-Hong Li, Pei-Ying Yang, Xin Wang, Tao Jiang, Xia Chi
Fabry disease (FD), an X-linked disorder resulting from dysfunction of α-galactosidase A, can result in significant complications. Early intervention yields better outcomes, but misdiagnosis or delayed diagnosis is common, impacting prognosis. Thus, early detection is crucial in the clinical diagnosis and treatment of FD. While newborn screening for FD has been implemented in certain regions, challenges persist in enzyme activity detection techniques, particularly for female and late-onset patients. Further exploration of improved screening strategies is warranted...
March 24, 2024: Clinica Chimica Acta; International Journal of Clinical Chemistry
#2
JOURNAL ARTICLE
Z H Ge, Z H Lu, X D Pan, T T Lai, M J Yang, H Q Yang, H B Zhang, G Y Li, Z Q Dai, J H Mao
Objective: To investigate the clinical phenotype and genetic characteristics of patients with Fabry disease caused by a GLA variant, IVS4+919G>A. Methods: It was a prospective study. Fabry disease screening was conducted among high-risk population in Ninghai from October 2021 to August 2023. Those children with decreased α-galactosidase enzyme activity<2.40 μmol/(L·h) or elavated Lyso-GL-3 level>1.10 μg/L in dried blood spot (DBS) method underwent GLA genetic testing for diagnosis confirmation...
March 25, 2024: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
#3
JOURNAL ARTICLE
Mutaz Karameh, Karen Meir, Abed Qadan, Orit Pappo, Dotan Cohen, Ronen Durst, Offer Amir, Rabea Asleh
BACKGROUND AND AIMS: Endomyocardial biopsy (EMB) is a diagnostic tool for evaluating various cardiac conditions, such as myocarditis and myocardial infiltrative diseases. It is also the gold standard screening technique for detecting allograft rejection after heart transplantation. Despite advances in noninvasive imaging modalities for myocardial tissue characterization, EMB is still necessary for making a definitive diagnosis and determining treatment for certain conditions. Herein, we report our recent experience using EMB and its diagnostic yield...
March 11, 2024: Hellenic Journal of Cardiology: HJC
#4
JOURNAL ARTICLE
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth
Lysosomal storage disorders (LSDs) in adults have milder phenotype and variable age at presentation. Several studies have described the phenotype, genotype and treatment outcomes for adult-onset LSDs like Gaucher, Fabry, Pompe disease and others. We describe the first systematic study on the occurrence of LSDs in an adult population from India. It describes, the key clinical signs seen in these patients and those from literature review that can aid in early detection. Of 2102 biochemically diagnosed LSDs cases, 32 adult patients were identified with LSDs...
March 2024: JIMD Reports
#5
JOURNAL ARTICLE
Pelin Teke Kisa, Burcu Ozturk Hismi, Mehmet Kocabey, Zumrut Arslan Gulten, Bulent Huddam, Selim Ekinci, Evrim Bozkaya, Harun Akar, Ozge K Karalar Pekuz, Ayca Aydogan, Nur Arslan
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...
February 19, 2024: American Journal of Medical Genetics. Part A
#6
JOURNAL ARTICLE
Adele Mitrotti, Ighli Di Bari, Marica Giliberti, Rossana Franzin, Francesca Conserva, Anna Chiusolo, Maddalena Gigante, Matteo Accetturo, Cesira Cafiero, Luisa Ricciato, Emma Diletta Stea, Cinzia Forleo, Anna Gallone, Michele Rossini, Marco Fiorentino, Giuseppe Castellano, Paola Pontrelli, Loreto Gesualdo
Between 15-20% of patients with end stage renal disease (ESRD) do not know the cause of the primary kidney disease and can develop complications after kidney transplantation. We performed a genetic screening in 300 patients with kidney transplantation, or undiagnosed primary renal disease, in order to identify the primary disease cause and discriminate between overlapping phenotypes. We used a custom-made panel for next-generation sequencing (Agilent technology, Santa Clara, CA, USA), including genes associated with Fabry disease, podocytopaties, complement-mediated nephropathies and Alport syndrome-related diseases...
January 24, 2024: International Journal of Molecular Sciences
#7
MULTICENTER STUDY
Ilaria Romani, Cristina Sarti, Patrizia Nencini, Giovanni Pracucci, Marialuisa Zedde, Vittoria Cianci, Antonia Nucera, Jessica Moller, Daniele Orsucci, Danilo Toni, Pasquale Palumbo, Carmela Casella, Vincenza Pinto, Leonardo Barbarini, Rita Bella, Umberto Scoditti, Michele Ragno, Domenico Maria Mezzapesa, Rossana Tassi, Gino Volpi, Marina Diomedi, Guido Bigliardi, Anna Maria Cavallini, Alberto Chiti, Stefano Ricci, Emanuela Cecconi, Giovanni Linoli, Simona Sacco, Maurizia Rasura, Antonello Giordano, Bruno Bonetti, Marta Melis, Lucia Princiotta Cariddi, Roberto Currò Dossi, Ilaria Grisendi, Umberto Aguglia, Maria Rita Di Ruzza, Maurizio Melis, Emilia Sbardella, Marco Vista, Raffaella Valenti, Rosa Fortunata Musolino, Bruno Passarella, Vita Direnzo, Giovanni Pennisi, Antonio Genovese, Fabio Di Marzio, Rossana Sgobio, Maurizio Acampa, Serena Nannucci, Federica Dagostino, Maria Luisa Dell'Acqua, Maria Giovanna Cuzzoni, Antonella Picchioni, Benedetta Calchetti, Francesca Notturno, Filomena Di Lisi, Stefano Forlivesi, Maria Luisa Delodovici, Susanne Christiane Buechner, Silvia Biagini, Donatella Accavone, Raffaele Manna, Amelia Morrone, Domenico Inzitari
BACKGROUND: Fabry disease (FD) is a treatable X-linked lysosomal storage disorder caused by GLA gene variants leading to alpha-galactosidase A deficiency. FD is a rare cause of stroke, and it is still controversial whether in stroke patients FD should be searched from the beginning or at the end of the diagnostic workup (in cryptogenic strokes). METHODS: Fabry-Stroke Italian Registry is a prospective, multicentric screening involving 33 stroke units. FD was sought by measuring α-galactosidase A activity (males) and by genetic tests (males with reduced enzyme activity and females) in patients aged 18-60 years hospitalized for TIA, ischemic stroke, or intracerebral hemorrhage...
February 15, 2024: Journal of the Neurological Sciences
#8
JOURNAL ARTICLE
Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Alessandro P Burlina, Alberto B Burlina
In the last two decades, the development of high-throughput diagnostic methods and the availability of effective treatments have increased the interest in newborn screening for lysosomal storage disorders. However, long-term follow-up experience is needed to clearly identify risks, benefits and challenges. We report our 8-year experience of screening and follow-up on about 250,000 neonates screened for four lysosomal storage diseases (Pompe disease, mucopolysaccharidosis type I, Fabry disease, Gaucher disease), using the enzyme activity assay by tandem mass spectrometry, and biomarker quantification as a second-tier test...
December 25, 2023: International Journal of Neonatal Screening
#9
REVIEW
Bo Yu, Mohamed G Atta, Daniel C Brennan, Sam Kant
Fabry disease is an X-linked inheritable lysosomal storage disease caused by various mutations of the galactosidase α gene resulting in α-galactosidase deficiency. Chronic kidney disease (CKD) is one of the most significant consequences of Fabry disease, with risk of end-stage kidney disease (ESKD) in this population. Like for other patients with ESKD, kidney transplant is the optimal treatment for Fabry disease patients with ESKD. However, enzyme replacement therapy and newer Fabry disease treatments remain important to mitigate other end organ damage such as cardiomyopathy post transplantation...
January 16, 2024: Journal of Nephrology
#10
JOURNAL ARTICLE
Eunjung Cho, Jung Tak Park, Tae-Hyun Yoo, Soo Wan Kim, Cheol Whee Park, Seung Seok Han, Yeong Hoon Kim, Young Joo Kwon
BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the deficient activity of α-galactosidase A (α-Gal A) enzyme, affecting multiple organs including kidney. In this study, we aimed to determine the prevalence of FD in patients with chronic kidney disease (CKD) including those on renal replacement therapy in Korea. METHODS: This is a national, multicenter, observational study performed between August 24, 2017 and February 28, 2020...
January 12, 2024: Kidney Research and Clinical Practice
#11
EDITORIAL
Jung-Ho Shin, Su Hyun Kim
No abstract text is available yet for this article.
January 12, 2024: Kidney Research and Clinical Practice
#12
REVIEW
Antonino Tuttolomondo, Irene Baglio, Renata Riolo, Federica Todaro, Gaspare Parrinello, Salvatore Miceli, Irene Simonetta
Fabry disease (FD) is a recessive monogenic disease linked to chromosome X due to more than two hundred mutations in the alfa-galactosidase A (GLA) gene. Modifications of the GLA gene may cause the progressive accumulation of globotriaosylceramide (Gb3) and its deacylated form, globotriasylsphingosine (lyso-Gb3), in lysosomes of several types of cells of the heart, kidneys, skin, eyes, peripheral and central nervous system (not clearly and fully demonstrated), and gut with different and pleiotropic clinical symptoms...
December 20, 2023: International Journal of Molecular Sciences
#13
JOURNAL ARTICLE
Emanuele Monda, Gaetano Diana, Francesca Graziani, Marta Rubino, Athanasios Bakalakos, Ales Linhart, Dominique P Germain, Maurizio Scarpa, Elena Biagini, Maurizio Pieroni, Perry Mark Elliott, Giuseppe Limongelli
BACKGROUND: The diagnosis of Fabry disease (FD) has relevant implications related to the management. Thus, a clear assignment of GLA variant pathogenicity is crucial. This systematic review and meta-analysis aimed to investigate the prevalence of FD in high-risk populations and newborns and evaluate the impact of different GLA variant classifications on the estimated prevalence of FD. METHODS: We searched the EMBASE and PubMed databases on February 21, 2023. Observational studies evaluating the prevalence of FD and reporting the identified GLA variants were included...
December 4, 2023: Circulation. Genomic and Precision Medicine
#14
JOURNAL ARTICLE
Kirill Savostyanov, Alexander Pushkov, Ilya Zhanin, Natalya Mazanova, Alexander Pakhomov, Elena Trufanova, Alina Alexeeva, Dmitry Sladkov, Ludmila Kuzenkova, Aliy Asanov, Andrey Fisenko
BACKGROUND: Fabry disease (FD) is a rare hereditary multisystem disease caused by variants of the GLA gene. Determination of GLA gene variants and identification of genotype-phenotype correlations allow us to explain the features of FD associated with predominant damage of one or another system, both in the classical and atypical forms of FD, as well as in cases with late manifestation and involvement of one of the systems. METHODS: The study included 293 Russian patients with pathogenic variants of the GLA gene, which were identified as a result of various selective screening programs...
October 28, 2023: Genes
#15
JOURNAL ARTICLE
Daniel Linares, Beatriz Luna, Edson Loayza, Gonzalo Taboada, Uma Ramaswami
Fabry disease (FD) is an X-linked lysosomal storage disease caused by pathogenic variants in the GLA gene. It has a wide range of clinical manifestations, typically related to the specific underlying GLA variant. One of the main features of FD is kidney involvement; therefore, several studies have addressed the prevalence of FD in all types of patients with chronic kidney disease. We performed a systematic review and meta-analysis of screening studies in chronic kidney disease patients, including those on dialysis, had undergone a kidney transplantation, and those who did not receive kidney replacement therapy, and assessed the prevalence of pathogenic variants in these cohorts...
December 2023: Molecular Genetics and Metabolism
#16
JOURNAL ARTICLE
Li-Na Zhou, Shao-Shao Dong, Sheng-Ze Zhang, Li-Wa Huang, Wen Huang
BACKGROUND: Fabry disease (FD) is an X-linked, hereditary dysfunction of glycosphingolipid storage caused by mutations in the GLA gene encoding alpha-galactosidase A enzyme. In rare cases, FD may coexist with immunoglobulin A nephropathy (IgAN). We describe a case of concurrent FD, IgAN, and dilated cardiomyopathy-causing mutations in the TTN and BAG3 genes, which has not been reported previously. CASE PRESENTATION: A 60-year-old female patient was admitted with a one-week history of facial and lower-limb edema, two-year history of left ventricular hypertrophy and sinus bradycardia, and recurring numbness and pain in three lateral digits with bilateral thenar muscle atrophy...
November 1, 2023: BMC Nephrology
#17
JOURNAL ARTICLE
Tsung-Hsun Tsai, Chung-Hsing Wang, Shang-Lun Chiang, Jing-Yang Huang, DA-Tian Bau, Yu-Nan Huang, Pen-Hua Su
BACKGROUND/AIM: Fabry disease, an X-linked lysosomal storage disorder, causes progressive globotriaosylceramide accumulation in cells throughout the body. Characteristic multiorgan manifestations include renal dysfunction (Fabry nephropathy) and associated urinary tract complications. Enzyme replacement therapy (ERT) has been available since 2001, but contemporary real-world data are lacking regarding Fabry nephropathy risks and treatment outcomes. PATIENTS AND METHODS: This retrospective cohort study analyzed electronic medical records data for 10,637 Fabry disease patients from the TriNetX research database...
2023: In Vivo
#18
Bartlomiej Blaszczyk, Mieszko Wieckiewicz, Mariusz Kusztal, Monika Michalek-Zrabkowska, Gabriella Lachowicz, Grzegorz Mazur, Helena Martynowicz
BACKGROUND: Fabry disease (FD) is an X-chromosome-linked disorder characterized by a reduced or complete absence of the enzyme α-galactosidase, resulting in the accumulation of lysosomal globotriaosylceramide. Despite the presence of these deposits in multiple organs, the problem of sleep disorders within this population has very rarely been documented. OBJECTIVE: This study aimed to investigate the types and prevalence of sleep disorders among patients with FD...
2023: Frontiers in Neurology
#19
JOURNAL ARTICLE
Aleš Linhart, Gabriela Dostálová, Kathy Nicholls, Michael L West, Camilla Tøndel, Ana Jovanovic, Pilar Giraldo, Bojan Vujkovac, Tarekegn Geberhiwot, Einat Brill-Almon, Sari Alon, Raul Chertkoff, Rossana Rocco, Derralynn Hughes
BACKGROUND: Pegunigalsidase alfa is a novel, PEGylated α-galactosidase-A enzyme-replacement therapy approved in the EU and US to treat patients with Fabry disease (FD). OBJECTIVE/METHODS: BRIDGE is a phase 3 open-label, switch-over study designed to assess safety and efficacy of 12 months of pegunigalsidase alfa (1 mg/kg every 2 weeks) treatment in adults with FD who had been previously treated with agalsidase alfa (0.2 mg/kg every 2 weeks) for ≥ 2 years...
October 21, 2023: Orphanet Journal of Rare Diseases
#20
Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Antonino Tuttolomondo
Background: Anderson-Fabry disease (AFD) is an X-linked disease that results from reduced activity of the enzyme galactosidase alpha (GLA). When the GLA gene sequence is altered by mutations that alter the normal DNA sequence, variants of the alpha-galactosidase A enzyme are produced, which may or may not function. These mutations are responsible for Fabry disease, and to date, over 800 different mutations of the gene have been described in patients with Anderson-Fabry disease. In this case, we report the case of a woman who is the sole family member with this type of mutation...
2023: Frontiers in Genetics
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