Fabry disease related nephropathy – case family report and literature review
DOI:
https://doi.org/10.15584/ejcem.2022.4.15Keywords:
Fabry disease, kidney injury, membranoproliferative glomerulonephritis, rare diseaseAbstract
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.
Conclusion. 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.
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References
Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30. doi: 10.1186/1750-1172-5-30
Simonetta I, Tuttolomondo A, Daidone M, Pinto A. Biomarkers in Anderson-Fabry Disease. Int J Mol Sci. 2020;21(21):8080. doi: 10.3390/ijms21218080
El-Abassi R, Singhal D, England JD. Fabry's disease. J Neurol Sci. 2014;344(1-2):5-19. doi: 10.1016/j.jns.2014.06.029
Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014
Pieroni M, Moon JC, Arbustini E, et al. Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week. J Am Coll Cardiol. 2021;77(7):922-936. doi: 10.1016/j.jacc.2020.12.024
Capelli I, Aiello V, Gasperoni L, et al. Kidney Transplant in Fabry Disease: A Revision of the Literature. Medicina (Kaunas). 2020;56(6):284. doi: 10.3390/medicina56060284
Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138(4):338-346. doi: 10.7326/0003-4819-138-4-200302180-00014
Bernardes TP, Foresto RD, Kirsztajn GM. Fabry disease: genetics, pathology, and treatment. Rev Assoc Med Bras (1992). 2020;66(1):10-16. doi: 10.1590/1806-9282.66
Schiffmann R. Fabry disease. Handb Clin Neurol. 2015;132:231-248. doi: 10.1016/B978-0-444-62702-5.00017-2
de Menezes Neves PDM, Machado JR, Custódio FB, et al. Ultrastructural deposits appearing as "zebra bodies" in renal biopsy: Fabry disease? - comparative case reports. BMC Nephrol. 2017;18(1):157. doi: 10.1186/s12882-017-0571-0
Ries M, Bettis KE, Choyke P, Kopp JB, Austin HA 3rd, Brady RO, Schiffmann R. Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry disease. Kidney Int. 2004;66(3):978-982. doi: 10.1111/j.1523-1755.2004.00846
Warnock DG, West ML. Diagnosis and management of kidney involvement in Fabry disease. Adv Chronic Kidney Dis. 2006;13(2):138-147. doi: 10.1053/j.ackd.2006.01.013
Cybulla M, Kurschat C, West M. Kidney transplantation and enzyme replacement therapy in patients with Fabry disease. J Nephrol. 2013;26(4):645-651. doi: 10.5301/jn.5000214
Pisani A, Petruzzelli Annicchiarico L, et al. Parapelvic cysts, a distinguishing feature of renal Fabry disease. Nephrol Dial Transplant. 2018;33(2):318-323. doi: 10.1093/ndt/gfx009
Kidney Disease: Improving Global Outcomes (KDIGO) CKD Work Group. KDIGO 2012 Clinical Practice Guideline for the Evaluation and Management of Chronic Kidney Disease. Kidney Inter Suppl. 2013;3:1-150.
Fall B, Scott CR, Mauer M, et al. Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy. PLoS One. 2016;11(12):e0168346. doi: 10.1371/journal.pone.0168346
Auray-Blais C, Lavoie P, Abaoui M, et al. High-risk screening for Fabry disease in a Canadian cohort of chronic kidney disease patients. Clin Chim Acta. 2020;501:234-240. doi: 10.1016/j.cca.2019.10.045
Yeniçerioğlu Y, Akdam H, Dursun B, et al. Screening Fabry's disease in chronic kidney disease patients not on dialysis: a multicenter study. Ren Fail. 2017;39(1):104-111. doi: 10.1080/0886022X.2016.1254656
Mauer M, Glynn E, Svarstad E, et al. Mosaicism of podocyte involvement is related to podocyte injury in females with Fabry disease. PLoS One. 2014;9(11):e112188. doi: 10.1371/journal.pone.0112188
Ortiz A, Oliveira JP, Waldek S, Warnock DG, Cianciaruso B, Wanner C; Fabry Registry. Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transplant. 2008;23(5):1600-1607. doi: 10.1093/ndt/gfm848
Siegenthaler M, Huynh-Do U, Krayenbuehl P, et al. Impact of cardio-renal syndrome on adverse outcomes in patients with Fabry disease in a long-term follow-up. Int J Cardiol. 2017;249:261-267. doi: 10.1016/j.ijcard.2017.09.027
Nisticò R, Pisani A. Terapia della malattia di Fabry: focus su agalsidasi alfa e agalsidasi beta [The treatment for Fabry disease: focus on agalsidase alpha and beta]. Recenti Prog Med. 2021;112(10):75e-84e. doi: 10.1701/3679.36652
Chimenz R, Chirico V, Cuppari C, et al. Fabry disease and kidney involvement: starting from childhood to understand the future. Pediatr Nephrol. 2022;37(1):95-103. doi: 10.1007/s00467-021-05076-x
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