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West et al. Rare Dis Orphan Drugs J 2024;3:22 https://dx.doi.org/10.20517/rdodj.2023.61 Page 31 of 34

receiving enzyme replacement therapy with agalsidase-beta. J Am Soc Nephrol 2007;18:2609-17. DOI PubMed
104. Warnock DG, Thomas CP, Vujkovac B, et al. Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved
kidney function during agalsidase-beta therapy. J Med Genet 2015;52:860-6. DOI PubMed PMC
105. Epstein M, Kovesdy CP, Clase CM, Sood MM, Pecoits-Filho R. Aldosterone, mineralocorticoid receptor activation, and CKD: a
review of evolving treatment paradigms. Am J Kidney Dis 2022;80:658-66. DOI PubMed
106. Trujillo H, Caravaca-Fontán F, Caro J, Morales E, Praga M. The forgotten antiproteinuric properties of diuretics. Am J Nephrol
2021;52:435-49. DOI PubMed
107. Unruh ML, Pankratz VS, Demko JE, Ray EC, Hughey RP, Kleyman TR. Trial of amiloride in type 2 diabetes with proteinuria.
Kidney Int Rep 2017;2:893-904. DOI PubMed PMC
108. Trimarchi H, Forrester M, Lombi F, et al. Amiloride as an alternate adjuvant antiproteinuric agent in Fabry disease: the potential roles
of plasmin and uPAR. Case Rep Nephrol 2014;2014:854521. DOI PubMed PMC
109. Heerspink HJL, Stefánsson BV, Correa-Rotter R, et al. Dapagliflozin in patients with chronic kidney disease. N Engl J Med
2020;383:1436-46. DOI
110. Packer M, Butler J, Zannad F, et al. Effect of empagliflozin on worsening heart failure events in patients with heart failure and
preserved ejection fraction: EMPEROR-preserved trial. Circulation 2021;144:1284-94. DOI
111. Bothou C, Beuschlein F, Nowak A. Endocrine disorders in patients with Fabry disease: insights from a reference centre prospective
study. Endocrine 2022;75:728-39. DOI PubMed PMC
112. Pisani A, Sabbatini M, Duro G, Colomba P, Riccio E. Antiproteinuric effect of add-on paricalcitol in Fabry disease patients: a
prospective observational study. Nephrol Dial Transplant 2015;30:661-6. DOI PubMed
113. Keber T, Tretjak M, Cokan Vujkovac A, Mravljak M, Ravber K, Vujkovac B. Paricalcitol as an antiproteinuric agent can result in the
deterioration of renal and heart function in a patient with Fabry disease. Am J Case Rep 2017;18:644-8. DOI PubMed PMC
114. Larsen T, Mose FH, Bech JN, Pedersen EB. Effect of paricalcitol on renin and albuminuria in non-diabetic stage III-IV chronic
kidney disease: a randomized placebo-controlled trial. BMC Nephrol 2013;14:163. DOI PubMed PMC
115. Humalda JK, Goldsmith DJA, Thadhani R, de Borst MH. Vitamin D analogues to target residual proteinuria: potential impact on
cardiorenal outcomes. Nephrol Dial Transplant 2015;30:1988-94. DOI PubMed PMC
116. Dincer MT, Ozcan SG, Ikitimur B, et al. Blood pressure variability in Fabry disease patients. Nephron 2022;146:343-50. DOI
117. Kim SH, Choi SJ. Management of hypertension in Fabry disease. Electrolyte Blood Press 2023;21:8-17. DOI PubMed PMC
118. Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other
clinical events: natural history data from the Fabry Registry. Stroke 2009;40:788-94. DOI PubMed
119. Politei JM, Bouhassira D, Germain DP, et al. Pain in Fabry disease: practical recommendations for diagnosis and treatment. CNS
Neurosci Ther 2016;22:568-76. DOI PubMed PMC
120. Ouyang Y, Zhang W, Zhao Z, et al. Globotriaosylsphingosine improves risk stratification of kidney progression in Fabry disease
patients. Clin Chim Acta 2024;556:117851. DOI
121. Pastores GM, Boyd E, Crandall K, Whelan A, Piersall L, Barnett N. Safety and pharmacokinetics of agalsidase alfa in patients with
Fabry disease and end-stage renal disease. Nephrol Dial Transplant 2007;22:1920-5. DOI PubMed
122. Mignani R, Feriozzi S, Pisani A, et al. Agalsidase therapy in patients with Fabry disease on renal replacement therapy: a nationwide
study in Italy. Nephrol Dial Transplant 2008;23:1628-35. DOI
123. Woolen SA, Shankar PR, Gagnier JJ, MacEachern MP, Singer L, Davenport MS. Risk of nephrogenic systemic fibrosis in patients
with stage 4 or 5 chronic kidney disease receiving a group II gadolinium-based contrast agent: a systematic review and meta-analysis.
JAMA Intern Med 2020;180:223-30. DOI PubMed PMC
124. Capelli I, Aiello V, Gasperoni L, et al. Kidney transplant in Fabry disease: a revision of the literature. Medicina 2020;56:284. DOI
PubMed PMC
125. Odani K, Okumi M, Honda K, Ishida H, Tanabe K. Kidney transplantation from a mother with unrecognized Fabry disease to her son
with low α-galactosidase a activity: a 14-year follow-up without enzyme replacement therapy. Nephrology 2016;21:57-9. DOI
PubMed
126. Puliyanda DP, Wilcox WR, Bunnapradist S, Nast CC, Jordan SC. Fabry disease in a renal allograft. Am J Transplant 2003;3:1030-2.
DOI
127. Mignani R, Panichi V, Giudicissi A, et al. Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry
disease: a pilot study. Kidney Int 2004;65:1381-5. DOI
128. Naseer MS, Chand R, Coppola S, Abreo A, Sharma M, Singh N. Post-transplant de-novo renal phospholipidosis in a kidney
transplant recipient: Fabry disease or something else? Clin Nephrol Case Stud 2020;8:46-8. DOI PubMed PMC
129. Fujii H, Kono K, Hara S, Ishimura T, Nishi S. Histological changes of a kidney in a recipient who received an allograft from a patient
with Fabry disease. J Nephrol 2020;33:657-9. DOI
130. Aasebø W, Strøm EH, Hovig T, Undset LH, Heiberg A, Jenssen T. Fabry disease in donor kidneys with 3- and 12-year follow-up
after transplantation. NDT Plus 2010;3:303-5. DOI PubMed PMC
131. Zarate YA, Patterson L, Yin H, Hopkin RJ. A case of minimal change disease in a Fabry patient. Pediatr Nephrol 2010;25:553-6.
DOI
132. Lenders M, Oder D, Nowak A, et al. Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted
patients with Fabry disease. J Intern Med 2017;282:241-53. DOI