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, Singhal A, Vartanian N, Suva LJ, Friedman PA, Robinson-Cohen C. Network Interactions of Circulating FGF23, HRG-HMGB1, and Cardiac Disease in CKD. Journal of the American Society of Nephrology : JASN 2025. PMID: 40238264


  2. Cassianne Robinson-Cohen, Farzana Perwad, Joachim H. Ix, Valentin David, Elvis Abang Akwo. Association of the Ratio of Intact-to-C-terminal Fibroblast Growth Factor 23 with Heart Failure with Preserved Ejection Fraction. Journal of the American Society of Nephrology 2024. PMID:


  3. Farzana Perwad, Elvis Abang Akwo, Cassianne Robinson-Cohen. Transfer Learning Predicts Network Biology for Fibroblast Growth Factor 23 (FGF-23) and Cardiac Disease. Journal of the American Society of Nephrology 2024. PMID:


  4. 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


  5. Ward LM, Högler W, Glorieux FH, Portale AA, Whyte MP, Munns CF, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Sochett E, Muroya K, Tanaka H, Pitukcheewanont P, Gottesman GS, Biggin A, Perwad F, Chen A, Lawrence Merritt Ii J, Imel EA. Burosumab vs conventional therapy in children with X-linked hypophosphatemia: results of the open-label, phase 3 extension period. JBMR plus 2024. PMID: 38690124


  6. Cassianne Robinson-Cohen, Nicholas Vartanian, Elvis A. Akwo, Farzana Perwad. Multi-Trait Analysis of Mineral Metabolism Markers Identifies Novel Genetic Associations for FGF23. Journal of the American Society of Nephrology 2023. PMID:


  7. Farzana Perwad, Nicholas Vartanian, Elvis A. Akwo, Cassianne Robinson-Cohen. Multi-Trait Genome-Wide Association Study (GWAS) and Functional Genomics Identifies Novel Genetic Traits and Dynamic Networks for FGF23. Journal of the American Society of Nephrology 2023. PMID:


  8. 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


  9. 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


  10. 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


  11. 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


  12. 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


  13. 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


  14. Ashley M. Gefen, Christine B. Sethna, Onur Cil, Farzana Perwad, Meg Schoettler, Louise Amlie-Wolf, Jonathan S. Ellison, Daniel Feig, Joshua Zaritsky. Genetic Testing in Children with Nephrolithiasis and Nephrocalcinosis. Journal of the American Society of Nephrology 2021. PMID:


  15. Farzana Perwad, Matthew Matheson, Isidro B. Salusky, Harald Jüppner, Myles Wolf, Bradley A. Warady, Susan L. Furth, Derek Ng, Anthony A. Portale. Longitudinal Changes in FGF-23 in Children with CKD. Journal of the American Society of Nephrology 2021. PMID:


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


  17. 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


  18. 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


  19. 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


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


  21. 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:


  22. Farzana Perwad, Angel Chen, Lin Zhang, Mary Scott Roberts, Anthony A. Portale. Nephrocalcinosis at Baseline Did Not Increase the Risk of Nephrocalci-nosis Progression After Long-Term Burosumab Treatment in Adults and Children with X-Linked Hypophosphatemia (XLH). Journal of the American Society of Nephrology 2020. PMID:


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


  24. 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


  25. 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:


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


  27. 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:


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


  29. 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


  30. 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


  31. 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


  32. 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


  33. 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


  34. 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


  35. 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


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


  37. 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


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


  39. 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:


  40. 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


  41. 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


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


  43. 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


  44. 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


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


  46. 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


  47. 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


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


  49. 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


  50. 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


  51. 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