Fanconi Syndrome Questions & Answers

1. Klootwijk ED, Reichold M, Helip-Wooley A, et al. Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. N Engl J Med. 2014 Jan 9. 370 (2):129-38. [QxMD MEDLINE Link].

2. Martín-Begué N, Alarcón S, Wolley-Dod C, Lara LE, Madrid Á, Cano P, et al. Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital. JIMD Rep. 2017. 35:17-22. [QxMD MEDLINE Link].

3. Moumas E, Bridoux F, Leroy F, Belmouaz S, Randriamalala E, Desport E, et al. Fanconi syndrome and chronic kidney disease in paroxysmal nocturnal hemoglobinuria: effect of eculizumab therapy. Clin Nephrol. 2012 Oct. 78(4):316-21. [QxMD MEDLINE Link].

4. Golachowska MR, van Dael CM, Keuning H, Karrenbeld A, Hoekstra D, Gijsbers CF, et al. MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome. J Pediatr Gastroenterol Nutr. 2012 Apr. 54(4):491-8. [QxMD MEDLINE Link].

5. Yamazaki S, Watanabe T, Sato S, Yoshikawa H. Outcome of renal proximal tubular dysfunction with Fanconi syndrome caused by sodium valproate. Pediatr Int. 2016 Oct. 58 (10):1023-1026. [QxMD MEDLINE Link].

6. Koga S, Kimata T, Yamanouchi S, et al. Risk factors for sodium valproate-induced renal tubular dysfunction. Clin Exp Nephrol. 2018 Apr. 22 (2):420-5. [QxMD MEDLINE Link].

7. Wang C, Zhou Y, Song L, Deng Z, Fang W. Valproic-induced Fanconi syndrome: Clinical features, risk factors, diagnosis and management. Front Med (Lausanne). 2022. 9:945244. [QxMD MEDLINE Link]. [Full Text].

8. Kapitsinou PP, Ansari N. Acute renal failure in an AIDS patient on tenofovir: a case report. J Med Case Reports. 2008 Mar 31. 2:94. [QxMD MEDLINE Link].

9. Del Palacio M, Romero S, Casado JL. Proximal tubular renal dysfunction or damage in HIV-infected patients. AIDS Rev. 2012 Jul. 14(3):179-87. [QxMD MEDLINE Link].

10. Viganò M, Lampertico P, Colombo M. Drug safety evaluation of adefovir in HBV infection. Expert Opin Drug Saf. 2011 Sep. 10 (5):809-18. [QxMD MEDLINE Link].

11. Law ST, Li KK, Ho YY. Acquired Fanconi syndrome associated with prolonged adefovir dipivoxil therapy in a chronic hepatitis B patient. Am J Ther. 2013 Nov-Dec. 20 (6):e713-6. [QxMD MEDLINE Link].

12. Xu LJ, Jiang Y, Liao RX, Zhang HB, Mao JF, Chi Y, et al. Low-dose adefovir dipivoxil may induce Fanconi syndrome: clinical characteristics and long-term follow-up for Chinese patients. Antivir Ther. 2015. 20 (6):603-11. [QxMD MEDLINE Link].

13. Min HK, Kim EO, Lee SJ, Chang YK, Suh KS, Yang CW, et al. Rifampin-associated tubulointersititial nephritis and Fanconi syndrome presenting as hypokalemic paralysis. BMC Nephrol. 2013 Jan 16. 14:13. [QxMD MEDLINE Link]. [Full Text].

14. Rheault MN, Bechtel H, Neglia JP, Kashtan CE. Reversible Fanconi syndrome in a pediatric patient on deferasirox. Pediatr Blood Cancer. 2010 Dec 6. [QxMD MEDLINE Link].

15. Perrone D, Afridi F, King-Morris K, Komarla A, Kar P. Proximal Renal Tubular Acidosis (Fanconi Syndrome) Induced by Apremilast: A Case Report. Am J Kidney Dis. 2017 Nov. 70 (5):729-31. [QxMD MEDLINE Link].

16. Portales-Castillo I, Mount DB, Nigwekar SU, Yu EW, Rennke HG, Gupta S. Zoledronic Acid-Associated Fanconi Syndrome in Patients With Cancer. Am J Kidney Dis. 2022 Oct. 80 (4):555-9. [QxMD MEDLINE Link].

17. Katsunuma R, Mitsumoto K, Mizumoto A, Hirai Y, Nakauchi C, Uzu T. A Case of Fanconi Syndrome Associated with Long-term Treatment with Zoledronate. Intern Med. 2022 Nov 30. [QxMD MEDLINE Link].

18. Omura D, Hagiya H, Hanayama Y, Hasegawa K, Morinaga H, Kikuta A, et al. Successful treatment with glucocorticoid for secondary Fanconi syndrome caused by sarcoidosis. Mod Rheumatol. 2015 Jul 29. 1-3. [QxMD MEDLINE Link].

19. Sahu KK, Law AD, Jain N, Khadwal A, Suri V, Malhotra P, et al. Fanconi Syndrome: A Rare Initial Presentation of Acute Lymphoblastic Leukemia. Indian J Hematol Blood Transfus. 2016 Jun. 32 (Suppl 1):5-7. [QxMD MEDLINE Link].

20. Langman CB, Barshop BA, Deschênes G, Emma F, Goodyer P, Lipkin G, et al. Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney Int. 2016 Jun. 89 (6):1192-203. [QxMD MEDLINE Link].

21. Xu LJ, Jiang Y, Liao RX, Zhang HB, Mao JF, Chi Y, et al. Low-dose adefovir dipivoxil may induce Fanconi syndrome: clinical characteristics and long-term follow-up for Chinese patients. Antivir Ther. 2015 Mar 27. [QxMD MEDLINE Link].

22. Wang BF, Wang Y, Wang BY, Sun FR, Zhang D, Chen YS. Osteomalacia and Fanconi's syndrome caused by long-term low-dose adefovir dipivoxil. J Clin Pharm Ther. 2015 Jun. 40 (3):345-8. [QxMD MEDLINE Link].

23. Bouchireb K, Boyer O, Mansour-Hendili L, Garnier A, Heidet L, Niaudet P, et al. Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome. BMC Pediatr. 2014 Aug 11. 14:201. [QxMD MEDLINE Link].

24. Norden AG, Lapsley M, Unwin RJ. Urine retinol-binding protein 4: a functional biomarker of the proximal renal tubule. Adv Clin Chem. 2014. 63:85-122. [QxMD MEDLINE Link].

25. Emma F, Nesterova G, Langman C, Labbé A, Cherqui S, Goodyer P, et al. Nephropathic cystinosis: an international consensus document. Nephrol Dial Transplant. 2014 Sep. 29 Suppl 4:iv87-94. [QxMD MEDLINE Link].

26. Langman CB, Greenbaum LA, Sarwal M, Grimm P, Niaudet P, Deschênes G, et al. A randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety. Clin J Am Soc Nephrol. 2012 Jul. 7(7):1112-20. [QxMD MEDLINE Link]. [Full Text].

27. Ariceta G, Giordano V, Santos F. Effects of long-term cysteamine treatment in patients with cystinosis. Pediatr Nephrol. 2019 Apr. 34 (4):571-8. [QxMD MEDLINE Link].

28. Nitisinone: new drug. Type 1 tyrosinemia: an effective drug. Prescrire Int. 2007 Apr. 16(88):56-8. [QxMD MEDLINE Link].

Sahar Fathallah-Shaykh, MD Professor of Pediatrics, University of Alabama at Birmingham School of Medicine; Medical Director of Pediatric Dialysis Unit, Division of Pediatric Nephrology, Children's of Alabama

Sahar Fathallah-Shaykh, MD is a member of the following medical societies: American Society of Nephrology, American Society of Pediatric Nephrology

Disclosure: Nothing to disclose.

Adrian Spitzer, MD Clinical Professor Emeritus, Department of Pediatrics, Albert Einstein College of Medicine

Adrian Spitzer, MD is a member of the following medical societies: American Academy of Pediatrics, American Federation for Medical Research, American Pediatric Society, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Frederick J Kaskel, MD, PhD Director of the Division and Training Program in Pediatric Nephrology, Vice Chair, Department of Pediatrics, Montefiore Medical Center and Albert Einstein School of Medicine

Frederick J Kaskel, MD, PhD is a member of the following medical societies: American Association for the Advancement of Science, Eastern Society for Pediatric Research, Renal Physicians Association, American Academy of Pediatrics, American Pediatric Society, American Physiological Society, American Society of Nephrology, American Society of Pediatric Nephrology, American Society of Transplantation, Federation of American Societies for Experimental Biology, International Society of Nephrology, National Kidney Foundation, New York Academy of Sciences, Sigma Xi, The Scientific Research Honor Society, Society for Pediatric Research

Disclosure: Nothing to disclose.

Craig B Langman, MD Tenured Professor of Pediatrics, The First Isaac A Abt, MD, Professor of Kidney Diseases (Emeritus), Northwestern University, The Feinberg School of Medicine; Staff Nephrologist, The Ann and Robert H Lurie Children’s Hospital of Chicago

Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Federation for Clinical Research, American Society for Bone and Mineral Research, American Society of Nephrology, American Society of Pediatric Nephrology, Association of Clinical Scientists, Cochrane Collaboration, International Bone and Mineral Society, International Conferences on Calcium Regulating Hormones, International Pediatric Nephrology Association, International Society of Nephrology, International Society of Renal Nutrition and Metabolism, Midwest Society for Pediatric Research, Pediatric Academic Societies, ROCK (Research on Calculus Kinetics) Society, Society for Pediatric Research

Disclosure: Received income in an amount equal to or greater than $250 from: Alexion Pharmaceuticals; Horizon Pharmaceuticals); ; Dicerna Pharmaceuticals<br/>Incyte Pharmaceuticals; Eli Lilly for: Federation bio; Dicerna pharmaceuticals.

Deogracias Pena, MD Medical Director of Dialysis, Medical Director of Pediatric Nephrology and Transplantation, Cook Children's Medical Center; Clinical Associate Professor, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Medical Director of Pediatric Nephrology, Florida Hospital for Children

Deogracias Pena, MD is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Society of Pediatric Nephrology

Disclosure: Nothing to disclose.

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