Farzana Perwad, MD
Professor
Pediatrics
School of Medicine

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 & Training

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• Pediatric Nephrology University of California San Francisco 2005
• MD Pediatrics Nicklaus Children's Hospital 2001
• MBBS Medicine Kasturba Medical College 1996

Websites

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• Clinical Profile at UCSF Benioff Children's Hospital (ucsfbenioffchildrens.org)

Publications (48)

Top publication keywords:
Chronic Kidney Disease-Mineral and Bone DisorderVitamin DRenal Insufficiency, ChronicDeoxyribonuclease IFamilial Hypophosphatemic RicketsHypophosphatemiaFibroblast Growth FactorsMAP Kinase Signaling SystemPhosphorusCystinuriaKidneyThioctic Acid25-Hydroxyvitamin D3 1-alpha-HydroxylasePhosphatesHyperphosphatemia

• 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 Perwad F, Akwo EA, Vartanian N, Suva LJ, Friedman PA, Robinson-Cohen C
• Burosumab vs conventional therapy in children with X-linked hypophosphatemia: results of the open-label, phase 3 extension period.
  JBMR plus 2024 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 …
• Multi-Trait Analysis of Mineral Metabolism Markers Identifies Novel Genetic Associations for FGF23.
  Journal of the American Society of Nephrology 2023 Cassianne Robinson-Cohen, Nicholas Vartanian, Elvis A. Akwo, Farzana Perwad
• 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 Farzana Perwad, Nicholas Vartanian, Elvis A. Akwo, Cassianne Robinson-Cohen
• Burosumab vs Phosphate/Active Vitamin D in Pediatric X-Linked Hypophosphatemia: A Subgroup Analysis by Dose Level.
  The Journal of clinical endocrinology and metabolism 2023 Imel EA, Glorieux FH, Whyte MP, Portale AA, Munns CF, 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 …

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• Genetic testing in children with nephrolithiasis and nephrocalcinosis.
  Pediatric nephrology (Berlin, Germany) 2023 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 Variants Associated With Mineral Metabolism Traits in Chronic Kidney Disease.
  The Journal of clinical endocrinology and metabolism 2022 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
• 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 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, …
• Rickets in a child with prolonged acquired hypothyroidism secondary to Hashimoto's thyroiditis.
  Endocrinology, diabetes & metabolism case reports 2022 Schulmeister C, Lee J, Perwad F, Long R, Srinivasan S
• 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 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
• Genetic Testing in Children with Nephrolithiasis and Nephrocalcinosis.
  Journal of the American Society of Nephrology 2021 Ashley M. Gefen, Christine B. Sethna, Onur Cil, Farzana Perwad, Meg Schoettler, Louise Amlie-Wolf, Jonathan S. Ellison, Daniel Feig, Joshua Zaritsky
• Longitudinal Changes in FGF-23 in Children with CKD.
  Journal of the American Society of Nephrology 2021 Farzana Perwad, Matthew Matheson, Isidro B. Salusky, Harald Jüppner, Myles Wolf, Bradley A. Warady, Susan L. Furth, Derek Ng, Anthony A. Portale
• Adverse Consequences of Chronic Kidney Disease on Bone Health in Children.
  Seminars in nephrology 2021 Kumar J, Perwad F
• 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 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…
• Renal Dnase1 expression is regulated by FGF23 but loss of Dnase1 does not alter renal phosphate handling.
  Scientific reports 2021 Egli-Spichtig D, Zhang MYH, Li A, Pastor Arroyo EM, Hernando N, Wagner CA, Chang W, Perwad F
• 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 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 …
• Chapter 7 The experimental detection of FGF23 responsiveness in target organs.
  2021 Farzana Perwad, Daniela Egli-Spichtig
• 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.
  Bone Reports 2020 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, …
• 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 Farzana Perwad, Angel Chen, Lin Zhang, Mary Scott Roberts, Anthony A. Portale
• Burosumab in X-linked hypophosphatemia and perspective for chronic kidney disease.
  Current opinion in nephrology and hypertension 2020 Balani S, 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 Yokoyama JS, Matsuda-Abedini M, Denburg MR, Kumar J, Warady BA, Furth SL, Hooper SR, Portale AA, Perwad F
• 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.
  Journal of the Endocrine Society 2020 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 …
• α-Lipoic Acid (ALA) Improves Cystine Solubility in Cystinuria: Report of 2 Cases.
  Pediatrics 2020 Cil O, Perwad F
• Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial.
  2019 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, …
• Fibroblast growth factor 23 and phosphate homeostasis.
  Current opinion in nephrology and hypertension 2019 Balani S, Perwad F
• 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 Tolbert VP, Dvorak CC, Golden C, Vissa M, El-Haj N, Perwad F, Matthay KK, Vo KT
• Burosumab Therapy for X-Linked Hypophosphatemia and Therapeutic Implications for CKD.
  Clinical journal of the American Society of Nephrology : CJASN 2019 Perwad F, Portale AA
• 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 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, …
• Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial.
  Lancet (London, England) 2019 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, …
• Tumor necrosis factor stimulates fibroblast growth factor 23 levels in chronic kidney disease and non-renal inflammation.
  Kidney international 2019 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, …
• Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies.
  The Journal of clinical investigation 2018 Roberts MS, Burbelo PD, Egli-Spichtig D, Perwad F, Romero CJ, Ichikawa S, Farrow E, Econs MJ, Guthrie LC, Collins MT, Gafni RI
• Fibroblast Growth Factor 23 Expression Is Increased in Multiple Organs in Mice With Folic Acid-Induced Acute Kidney Injury.
  Frontiers in physiology 2018 Egli-Spichtig D, Zhang MYH, Perwad F
• Vitamin D and kidney disease.
  Bone reports 2018 Keung L, Perwad F
• 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 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-…
• Monogenic Causes of Proteinuria in Children.
  Frontiers in medicine 2018 Cil O, Perwad F
• Autoimmune hyperphosphatemic tumoral calcinosis.
  Bone Abstracts 2017 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
• Fibroblast Growth Factor 23 and Risk of CKD Progression in Children.
  Clinical journal of the American Society of Nephrology : CJASN 2016 Portale AA, Wolf MS, Messinger S, Perwad F, Jüppner H, Warady BA, Furth SL, Salusky IB
• Characterization of FGF23-Dependent Egr-1 Cistrome in the Mouse Renal Proximal Tubule.
  PloS one 2015 Portale AA, Zhang MY, David V, Martin A, Jiao Y, Gu W, Perwad F
• Phosphate Homeostasis and Metabolic Bone Disease.
  The Physiological Basis of Metabolic Bone Disease 2014 Farzana Perwad, Anthony Portale
• FGF-23 regulates CYP27B1 transcription in the kidney and in extra-renal tissues.
  PloS one 2013 Chanakul A, Zhang MY, Louw A, Armbrecht HJ, Miller WL, Portale AA, Perwad F
• Chronic inhibition of ERK1/2 signaling improves disordered bone and mineral metabolism in hypophosphatemic (Hyp) mice.
  Endocrinology 2012 Zhang MY, Ranch D, Pereira RC, Armbrecht HJ, Portale AA, Perwad F
• Chapter 25 Rickets Due to Hereditary Abnormalities of Vitamin D Synthesis or Action.
  Pediatric Bone 2012 Anthony A. Portale, Farzana Perwad, Walter L. Miller
• Vitamin D metabolism in the kidney: regulation by phosphorus and fibroblast growth factor 23.
  Molecular and cellular endocrinology 2011 Perwad F, Portale AA
• 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 Ranch D, Zhang MY, Portale AA, Perwad F
• Calcium and Phosphorus.
  Pediatric Nephrology 2009 Anthony A. Portale, Farzana Perwad
• 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 Perwad F, Zhang MY, Tenenhouse HS, Portale AA
• Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency.
  The Journal of clinical endocrinology and metabolism 2007 Kim CJ, Kaplan LE, Perwad F, Huang N, Sharma A, Choi Y, Miller WL, Portale AA
• Dietary and serum phosphorus regulate fibroblast growth factor 23 expression and 1,25-dihydroxyvitamin D metabolism in mice.
  Endocrinology 2005 Perwad F, Azam N, Zhang MY, Yamashita T, Tenenhouse HS, Portale AA