Fabry disease related nephropathy – case family report and literature review

• Authors: Nikola Król , Szymon Trąd , Katarzyna Milian-Ciesielska , Agnieszka Gala-Błądzińska

Abstracts

EN

Introduction 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.

Keywords

EN

. Fabry disease; kidney injury; membranoproliferative glomerulonephritis; rare disease

• Publisher: Uniwersytet Rzeszowski. Wydawnictwo Uniwersytetu Rzeszowskiego
• Journal: European Journal of Clinical and Experimental Medicine
• Year: 2022
• Issue: 4
• Pages: 482-487

Dates

published

2022

Contributors

author

Nikola Król

• Institute of Medical Sciences, Medical College of Rzeszow University, Rzeszow, Poland

author

Szymon Trąd

• Department of Internal Medicine, Nephrology and Endocrinology, St. Queen Jadwiga Clinical District Hospital No. 2 in Rzeszow, Rzeszow, Poland

author

Katarzyna Milian-Ciesielska

• Pathology Department, Jagiellonian University, Cracow, Poland
• Pathology Department, University Hospital of Cracow, Cracow, Poland

author

Agnieszka Gala-Błądzińska

• Institute of Medical Sciences, Medical College of Rzeszow University, Rzeszow, Poland

Identifiers

DOI

10.15584/ejcem.2022.4.15

Biblioteka Nauki

2216794