Farzana Perwad, MD

My research focus is to understand the molecular mechanisms of regulation of phosphorus and vitamin D metabolism in the setting of chronic kidney disease.
Education
2005 - Pediatric Nephrology, University of California San Francisco
MD, 2001 - Pediatrics, Nicklaus Children's Hospital
MBBS, 1996 - Medicine, Kasturba Medical College
Websites

  1. Perwad F, Akwo EA, Vartanian N, Suva LJ, Friedman PA, Robinson-Cohen C. Multi-trait Analysis of GWAS for circulating FGF23 Identifies Novel Network Interactions Between HRG-HMGB1 and Cardiac Disease in CKD. medRxiv : the preprint server for health sciences 2024. PMID: 38496593


  2. Leanne M Ward, Wolfgang Högler, Francis H Glorieux, Anthony A Portale, Michael P Whyte, Craig F Munns, Ola Nilsson, Jill H Simmons, Raja Padidela, Noriyuki Namba, Hae Il Cheong, Etienne Sochett, Koji Muroya, Hiroyuki Tanaka, Pisit Pitukcheewanont, Gary S Gottesman, Andrew Biggin, Farzana Perwad, Angel Chen, J Lawrence Merritt, Erik A Imel. Burosumab versus conventional therapy in children with X-linked hypophosphatemia: results of the open-label, phase 3 extension period. JBMR plus 2024. PMID:


  3. Imel EA, Glorieux FH, Whyte MP, Portale AA, Munns CF, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, H?gler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Chen A, Roberts MS, Ward LM. Burosumab Versus Phosphate/Active Vitamin D in Pediatric X-Linked Hypophosphatemia: A Sub-group Analysis by Dose Level. The Journal of clinical endocrinology and metabolism 2023. PMID: 37084401


  4. Gefen AM, Sethna CB, Cil O, Perwad F, Schoettler M, Michael M, Angelo JR, Safdar A, Amlie-Wolf L, Hunley TE, Ellison JS, Feig D, Zaritsky J. Genetic testing in children with nephrolithiasis and nephrocalcinosis. Pediatric nephrology (Berlin, Germany) 2023. PMID: 36688940


  5. Laster ML, Rowan B, Chen HC, Schwantes-An TH, Sheng X, Friedman PA, Ikizler TA, Sinshiemer JS, Ix JH, Susztak K, de Boer IH, Kestenbaum B, Hung A, Moe SM, Perwad F, Robinson-Cohen C. Genetic Variants Associated with Mineral Metabolism Traits in Chronic Kidney Disease. 2022. PMID: 35587600


  6. Brandi ML, Jan de Beur S, Briot K, Carpenter T, Cheong HI, Cohen-Solal M, Crowley RK, Eastell R, Imanishi Y, Imel EA, Ing SW, Insogna K, Ito N, Javaid K, Kamenicky P, Keen R, Kubota T, Lachmann RH, Perwad F, Pitukcheewanont P, Portale A, Ralston SH, Tanaka H, Weber TJ, Yoo HW, Sun W, Williams A, Nixon A, Takeuchi Y. Efficacy of Burosumab in Adults with X-linked Hypophosphatemia (XLH): A Post Hoc Subgroup Analysis of a Randomized Double-Blind Placebo-Controlled Phase 3 Study. Calcified tissue international 2022. PMID: 35927518


  7. Schulmeister C, Lee J, Perwad F, Long R, Srinivasan S. Rickets in a child with prolonged acquired hypothyroidism secondary to Hashimoto's thyroiditis. Endocrinology, diabetes & metabolism case reports 2022. PMID: 35979838


  8. Akwo E, Pike MM, Ertuglu LA, Vartanian N, Farber-Eger E, Lipworth L, Perwad F, Siew E, Hung A, Bansal N, de Boer I, Kestenbaum B, Cox NJ, Ikizler TA, Wells Q, Robinson-Cohen C. Association of Genetically Predicted Fibroblast Growth Factor-23 with Heart Failure: A Mendelian Randomization Study. Clinical journal of the American Society of Nephrology : CJASN 2022. PMID: 35902130


  9. Kumar J, Perwad F. Adverse Consequences of Chronic Kidney Disease on Bone Health in Children. 2021. PMID: 34916005


  10. Briot K, Portale AA, Brandi ML, Carpenter TO, Cheong HI, Cohen-Solal M, Crowley RK, Eastell R, Imanishi Y, Ing S, Insogna K, Ito N, Jan de Beur S, Javaid MK, Kamenicky P, Keen R, Kubota T, Lachmann RH, Perwad F, Pitukcheewanont P, Ralston SH, Takeuchi Y, Tanaka H, Weber TJ, Yoo HW, Nixon A, Nixon M, Sun W, Williams A, Imel EA. Burosumab treatment in adults with X-linked hypophosphataemia: 96-week patient-reported outcomes and ambulatory function from a randomised phase 3 trial and open-label extension. RMD open 2021. PMID: 34548383


  11. Egli-Spichtig D, Zhang MYH, Li A, Pastor Arroyo EM, Hernando N, Wagner CA, Chang W, Perwad F. Renal Dnase1 expression is regulated by FGF23 but loss of Dnase1 does not alter renal phosphate handling. Scientific Reports 2021. PMID: 33731726


  12. Padidela R, Whyte MP, Glorieux FH, Munns CF, Ward LM, Nilsson O, Portale AA, Simmons JH, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Williams A, Nixon A, Sun W, Chen A, Skrinar A, Imel EA. Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia. Calcified tissue international 2021. PMID: 33484279


  13. Farzana Perwad, Daniela Egli-Spichtig. Chapter 7 The experimental detection of FGF23 responsiveness in target organs. 2021. PMID:


  14. Peter Kamenický, Anthony A. Portale, Tom Carpenter, Karine Briot, Erik A. Imel, Thomas Weber, Pisit Pitukcheewanont, Hae Il Cheong, Suzanne Jan de Beur, Yasuo Imanishi, Nobuaki Ito, Robin Lachmann, Hiroyuki Tanaka, Farzana Perwad, Lin Zhang, Alison Skrinar, Linda Rees, Karl L. Insogna, On behalf of the AXLES 1 Investigators. Long-term safety in adults with X-linked Hypophosphatemia (XLH) treated with Burosumab, a fully human monoclonal antibody against FGF23: Final results of a phase 3 trial. 2020. PMID:


  15. Balani S, Perwad F. Burosumab in X-linked hypophosphatemia and perspective for chronic kidney disease. 2020. PMID: 32701599


  16. Yokoyama JS, Matsuda-Abedini M, Denburg MR, Kumar J, Warady BA, Furth SL, Hooper SR, Portale AA, Perwad F. Association Between Chronic Kidney Disease-Mineral Bone Disease (CKD-MBD) and Cognition in Children: Chronic Kidney Disease in Children (CKiD) Study. Kidney Medicine 2020. PMID: 32775979


  17. Farzana Perwad, Anthony A Portale, Thomas O Carpenter, Karine Briot, Erik Allen Imel, Peter Kamenicky, Thomas Joseph Weber, Pisit Pitukcheewanont, Hae Il Cheong, Suzanne Marie Jan De Beur, Yasuo Imanishi, Nobuaki Ito, Robin Lachmann, Hiroyuki Tanaka, Lin Zhang, Alison Skrinar, Linda Rees, Karl Leonard Insogna. OR29-01 Long-Term Safety in Adults with X-Linked Hypophosphatemia (XLH) Treated with Burosumab, a Fully Human Monoclonal Antibody Against FGF23: Final Results of a Phase 3 Trial. 2020. PMID:


  18. Cil O, Perwad F. a-Lipoic Acid (ALA) Improves Cystine Solubility in Cystinuria: Report of 2 Cases. Pediatrics 2020. PMID: 32245805


  19. Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Hogler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial. 2019. PMID:


  20. Balani S, Perwad F. Fibroblast growth factor 23 and phosphate homeostasis. 2019. PMID: 31335449


  21. Tolbert VP, Dvorak CC, Golden C, Vissa M, El-Haj N, Perwad F, Matthay KK, Vo KT. Risk Factors for Transplant-Associated Thrombotic Microangiopathy after Autologous Hematopoietic Cell Transplant in High-Risk Neuroblastoma. Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2019. PMID: 31199983


  22. Perwad F, Portale AA. Burosumab Therapy for X-Linked Hypophosphatemia and Therapeutic Implications for CKD. Clinical journal of the American Society of Nephrology : CJASN 2019. PMID: 31171590


  23. Portale AA, Carpenter TO, Brandi ML, Briot K, Cheong HI, Cohen-Solal M, Crowley R, Jan De Beur S, Eastell R, Imanishi Y, Imel EA, Ing S, Ito N, Javaid M, Kamenicky P, Keen R, Kubota T, Lachmann R, Perwad F, Pitukcheewanont P, Ralston SH, Takeuchi Y, Tanaka H, Weber TJ, Yoo HW, Zhang L, Theodore-Oklota C, Mealiffe M, San Martin J, Insogna K. Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period. Calcified tissue international 2019. PMID: 31165191


  24. Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA. Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial. Lancet (London, England) 2019. PMID: 31104833


  25. Egli-Spichtig D, Imenez Silva PH, Glaudemans B, Gehring N, Bettoni C, Zhang MYH, Pastor-Arroyo EM, Schönenberger D, Rajski M, Hoogewijs D, Knauf F, Misselwitz B, Frey-Wagner I, Rogler G, Ackermann D, Ponte B, Pruijm M, Leichtle A, Fiedler GM, Bochud M, Ballotta V, Hofmann S, Perwad F, Föller M, Lang F, Wenger RH, Frew I, Wagner CA. Tumor necrosis factor stimulates fibroblast growth factor 23 levels in chronic kidney disease and non-renal inflammation. 2019. PMID: 31301888


  26. Roberts MS, Burbelo PD, Egli-Spichtig D, Perwad F, Romero CJ, Ichikawa S, Farrow E, Econs MJ, Guthrie LC, Collins MT, Gafni RI. Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies. 2018. PMID: 30226830


  27. Egli-Spichtig D, Zhang MYH, Perwad F. Fibroblast Growth Factor 23 Expression Is Increased in Multiple Organs in Mice With Folic Acid-Induced Acute Kidney Injury. 2018. PMID: 30405444


  28. Keung L, Perwad F. Vitamin D and kidney disease. 2018. PMID: 30591927


  29. Insogna KL, Briot K, Imel EA, Kamenický P, Ruppe MD, Portale AA, Weber T, Pitukcheewanont P, Cheong HI, Jan de Beur S, Imanishi Y, Ito N, Lachmann RH, Tanaka H, Perwad F, Zhang L, Chen CY, Theodore-Oklota C, Mealiffe M, San Martin J, Carpenter TO, AXLES 1 Investigators. A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti-FGF23 Antibody, in Adults With X-Linked Hypophosphatemia: Week 24 Primary Analysis. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2018. PMID: 29947083


  30. Cil O, Perwad F. Monogenic Causes of Proteinuria in Children. Frontiers in medicine 2018. PMID: 29594119


  31. Mary Scott Ramnitz, Peter Burbelo, Daniela Egli-Spichtig, Farzana Perwad, Christopher Romero, Shoji Ichikawa, Emily Farrow, Michael Econs, Lori Guthrie, Rachel I. Gafni, Michael T. Collins. Autoimmune hyperphosphatemic tumoral calcinosis. 2017. PMID:


  32. Portale AA, Wolf MS, Messinger S, Perwad F, Jüppner H, Warady BA, Furth SL, Salusky IB. Fibroblast Growth Factor 23 and Risk of CKD Progression in Children. Clinical journal of the American Society of Nephrology : CJASN 2016. PMID: 27561289


  33. Portale AA, Zhang MY, David V, Martin A, Jiao Y, Gu W, Perwad F. Characterization of FGF23-Dependent Egr-1 Cistrome in the Mouse Renal Proximal Tubule. PloS one 2015. PMID: 26588476


  34. Farzana Perwad, Anthony Portale. Phosphate Homeostasis and Metabolic Bone Disease. 2014. PMID:


  35. Chanakul A, Zhang MY, Louw A, Armbrecht HJ, Miller WL, Portale AA, Perwad F. FGF-23 regulates CYP27B1 transcription in the kidney and in extra-renal tissues. PloS one 2013. PMID: 24019880


  36. Zhang MY, Ranch D, Pereira RC, Armbrecht HJ, Portale AA, Perwad F. Chronic inhibition of ERK1/2 signaling improves disordered bone and mineral metabolism in hypophosphatemic (Hyp) mice. Endocrinology 2012. PMID: 22334725


  37. Anthony A. Portale, Farzana Perwad, Walter L. Miller. Chapter 25 Rickets Due to Hereditary Abnormalities of Vitamin D Synthesis or Action. 2012. PMID:


  38. Perwad F, Portale AA. Vitamin D metabolism in the kidney: regulation by phosphorus and fibroblast growth factor 23. Molecular and cellular endocrinology 2011. PMID: 21914460


  39. Ranch D, Zhang MY, Portale AA, Perwad F. Fibroblast growth factor 23 regulates renal 1,25-dihydroxyvitamin D and phosphate metabolism via the MAP kinase signaling pathway in Hyp mice. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2011. PMID: 21472778


  40. Anthony A. Portale, Farzana Perwad. Calcium and Phosphorus. 2009. PMID:


  41. Perwad F, Zhang MY, Tenenhouse HS, Portale AA. Fibroblast growth factor 23 impairs phosphorus and vitamin D metabolism in vivo and suppresses 25-hydroxyvitamin D-1alpha-hydroxylase expression in vitro. American journal of physiology. Renal physiology 2007. PMID: 17699549


  42. Kim CJ, Kaplan LE, Perwad F, Huang N, Sharma A, Choi Y, Miller WL, Portale AA. Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency. The Journal of clinical endocrinology and metabolism 2007. PMID: 17488797


  43. Perwad F, Azam N, Zhang MY, Yamashita T, Tenenhouse HS, Portale AA. Dietary and serum phosphorus regulate fibroblast growth factor 23 expression and 1,25-dihydroxyvitamin D metabolism in mice. Endocrinology 2005. PMID: 16123154