A Rare Case of Fabry Disease Combined With Idiopathic Multicentric Castleman Disease and Membranous Nephropathy [PDF]
Kidney MedicineThe present case documents a 17-year-old woman patient with nephrotic syndrome who was diagnosed with Fabry disease complicated by idiopathic multicentric Castleman disease (iMCD) and membranous nephropathy.
Machiko Oka +2 more
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Impact of migalastat therapy on corneal deposits in a female with Fabry disease: A case report [PDF]
Molecular Genetics and Metabolism ReportsFabry disease is a rare X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency, leading to globotriaosylceramide accumulation in multiple organs, including the eye, where corneal verticillata represents a typical sign.
Nicola Vitturi +5 more
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ECG parameters to detect cardiac involvement in Fabry disease [PDF]
BMC Cardiovascular DisordersBackground Cardiac involvement of the disease is a leading cause of death and disability in Fabry disease characterized by pathological accumulation of globotriaosylceramide (Gb3) and lyso-globotriaosylceramide (lyso-Gb3) in multiple organs.
Yu Wang +11 more
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Case Report: Concurrent Fabry disease, IgA nephropathy and undifferentiated connective tissue disease in a female with normal enzyme activity [PDF]
Frontiers in ImmunologyRationaleThe diagnosis of Fabry disease (FD) in heterozygous females remains clinically challenging, as random X-chromosome inactivation frequently leads to preserved α-galactosidase A (α-Gal A) activity and absence of classic clinical stigmata.
Aoteng Cui +6 more
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Susceptibility of Human B-Lymphoblastoid Cells to Shiga Toxin Intoxication Homologues [PDF]
MicroorganismsShiga toxins (Stx), produced by Stx-producing Escherichia coli (STEC), are known to target Gb3-expressing cells, contributing to organ pathology such as in the kidney and brain.
Alfredo G. Torres +8 more
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Cellular signaling pathway of Shiga toxin-induced ATP release [PDF]
Frontiers in Cellular and Infection MicrobiologyBackgroundShiga toxin (Stx) is the main virulence factor of enterohemorrhagic Escherichia coli, a food-borne pathogen that colonizes the intestine causing gastroenteritis and, in severe cases, hemolytic uremic syndrome.
Karl Johansson +4 more
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Clinical heterogeneity in Fabry disease: A clinical case [PDF]
Ķazaķstannyṇ Klinikalyķ Medicinasy, 2023 Fabry disease is an orphan lysosomal storage disease characterized by progressive organ damage. Considering that the disease is rare, the low awareness of doctors about this pathology leads to late diagnosis of the disease and untimely pathogenetic ...
Assel Issabekova, Olga Mashkunova
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Catfish Egg Lectin Enhances the Cytotoxicity of Sunitinib on Gb3-Expressing Renal Cancer Cells
Biomedicines, 2023 Metastatic renal cell carcinoma (RCC) is not sufficiently responsive to anticancer drugs, and thus, developing new drugs for advanced RCC remains vital.
Jun Ito +4 more
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Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease [PDF]
Kidney Research and Clinical Practice, 2021 Background In Fabry disease, the presence of globotriaosylceramide (GL3) deposits in various kidney cells leads to progressive renal dysfunction. However, kidney biopsy studies in patients with Fabry disease are limited.
Il Young Kim +2 more
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Cells, 2022 Fabry disease (FD) is a rare life-threatening disorder caused by deficiency of the alpha-galactosidase A (GLA) enzyme with a characteristic pain phenotype.
Marlene Spitzel +8 more
doaj +1 more source