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Phenotypic variability and the gender paradox in the R363C variant of Fabry disease.
JIMD Rep
January 2025
Division of Genetics and Metabolism, Department of Pediatrics University of Minnesota Minneapolis Minnesota USA.
Fabry disease is an X-linked lysosomal disease caused by variants in the gene. Although Fabry disease is X-linked, gene variants in females can exhibit a wide range of symptoms, challenging the traditional view of Fabry as an X-linked recessive disease. A family is presented here with a 36-year-old female who is symptomatic with chronic kidney disease and her oligosymptomatic 70-year-old father, both of whom have a heterozygous and hemizygous GLA pathogenic variant, respectively, c.
View Article and Find Full Text PDFFabry Disease: A Rare Mutation With Common Clinical Presentation.
Cureus
October 2024
Internal Medicine, Unidade Local de Saúde de Trás-os-Montes e Alto Douro, Chaves, PRT.
Strokes are infrequent in younger adults, making diagnosis of their underlying causes challenging. Fabry disease, a rare genetic condition with a complex and not fully understood pathophysiology, is one potential cause. This report describes a 41-year-old woman with a history of glaucoma, recurrent uveitis, ischemic stroke affecting the posterior circulation, and sensorineural hearing loss.
View Article and Find Full Text PDFFabry disease in familial Mediterranean fever according to the severity of the disease.
Reumatol Clin (Engl Ed)
November 2024
Division of Rheumatology, Dokuz Eylül University School of Medicine, Izmir, Turkey.
Objectives: Mutations in the α-galactosidase A (GLA) gene result in Fabry disease (FD), a rare metabolic condition. FD patients present with heterogeneous clinical manifestations, which may overlap with systemic diseases including familial Mediterranean fever (FMF). The aim of this study was to determine the frequency of FD in patients with mild and severe FMF and to prevent misdiagnosis by increasing clinicians' awareness.
View Article and Find Full Text PDFFabry Disease in a Female: A Unique Case Highlighting the Variability in Clinical Presentation.
Cureus
September 2024
Department of Medicine, Government Medical College Amritsar, Amritsar, IND.
Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient activity of the enzyme alpha-galactosidase A. This enzyme deficiency results in the accumulation of globotriaosylceramide (Gb3) in various tissues, causing multi-systemic manifestations. This case report presents a rare instance of Fabry disease in a 32-year-old female patient, highlighting the unique clinical presentation with multisystem involvement.
View Article and Find Full Text PDFCoexistence of Fabry Disease and Membranous Nephropathy: A Case Report.
Iran J Kidney Dis
August 2024
Department of Nephrology, The First Affiliated Hospital of USTC, Division of Life Science and Medicine, University of Science and Technology of China, Hefei, Anhui, 230001, China.
Article Synopsis
- * A renal biopsy revealed abnormal deposits in the glomeruli and features indicating FD, supported by a specific genetic mutation and low enzyme activity confirming the diagnosis.
- * After treatment with ramipril initially reduced protein levels in urine, the proteinuria returned, leading to ongoing treatment with allisartan isoproxil, which has not yet been effective in resolving the issue.
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