Fabry disease related nephropathy – case family report and literature review

dc.contributor.authorKról, Nikola
dc.contributor.authorTrąd, Szymon
dc.contributor.authorMilian-Ciesielska, Katarzyna
dc.contributor.authorGala-Błądzińska, Agnieszka
dc.date.accessioned2022-12-30T11:59:48Z
dc.date.available2022-12-30T11:59:48Z
dc.date.issued2022-12
dc.descriptionAll subjects gave informed consent to the inclusion prior to participating in the study. The study has been approved by the Bioethics Committee at the University of Rzeszow No 2018/06/10.
dc.description.abstractIntroduction and aim. Fabry disease (FD) is a ultrarare storage disorder which causes irreversible damage to the brain, heart, and kidneys in young patients. The aim of our study was to draw clinician’s attention to the need of considering FD in the differential diagnosis of kidney disorders. Description of the case. We present the case of a 45-year-old man who has been misdiagnosed for several years with arterial hypertension with organ complications. He was referred to the nephrological ward due to chronic advanced kidney disease of unclear etiology. After 2 months of thorough differential diagnostics, based on the clinical course (past stroke, membranoproliferative glomerulonephritis (MPGN), left ventricular hypertrophy, paroxysmal limb pain) and conducted genetic examination, FD was confirmed. Then, screening tests were performed among the patient’s family members, confirming the presence of the same mutation as in our patient in 4 women of which in 3 were diagnosed cardio-renal syndrome. The authors of other studies report glycolipid deposits in the kidney cells on a needle biopsy, usefulness assess podocyturia, globotriaosylceramide protein in the urine and renal parapelvic cysts in an ultrasound examination in diagnostic FD nephropathy. Conclusions. This is the first case report to describe membranoproliferative glomerulonephritis in a patient suffering from FD. In patients with FD and the same genotype, kidney damage has a different phenotype.eng
dc.identifier.citationEuropean Journal of Clinical and Experimental Medicine T. 20, z. 4 (2022), s. 482–487
dc.identifier.doi10.15584/ejcem.2022.4.15
dc.identifier.eissn2544-1361
dc.identifier.urihttps://repozytorium.ur.edu.pl/handle/item/8443
dc.language.isoeng
dc.publisherPublishing Office of the University of Rzeszow
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 Poland*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/pl/*
dc.subjectFabry disease
dc.subjectkidney injury
dc.subjectmembranoproliferative glomerulonephritis
dc.subjectrare disease
dc.titleFabry disease related nephropathy – case family report and literature review
dc.typearticle

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