Pediatric Alport Syndrome Medication

  • Author: Prasad Devarajan, MD; Chief Editor: Craig B Langman, MD   more...
 
Updated: Nov 29, 2011
 

Immunosuppressive agents

Class Summary

Cyclosporine may reduce proteinuria and retard the progression of renal disease by inducing afferent arteriolar vasoconstriction, increasing glomerular permselectivity, and inhibiting proinflammatory lymphokines. Efficacy of this treatment in patients was documented only in small series, and further studies are required before this therapy can be recommended on a routine basis. Abstracts suggest that cyclosporine may accelerate the development of interstitial fibrosis.[16, 13] Therefore, such therapy should be approached with caution and with close monitoring.

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Cyclosporine (Neoral, Sandimmune)

 

Cyclic polypeptide that suppresses some humoral immunity and, to greater extent, cell-mediated immune reactions. Available as cap and PO microemulsion liquid formulation.

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ACE inhibitors

Class Summary

These drugs may reduce proteinuria and retard the progression of renal disease by decreasing hydrostatic pressure across glomerular capillaries. Preliminary studies demonstrated effectiveness and relative safety of ACE inhibition in children with Alport syndrome, and its cautious use now is recommended.

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Enalapril (Vasotec)

 

Prevents conversion of angiotensin I to angiotensin II, potent vasoconstrictor, increasing levels of plasma renin and reducing aldosterone secretion.

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Contributor Information and Disclosures
Author

Prasad Devarajan, MD  Louise M Williams Endowed Chair in Pediatrics, Professor of Pediatrics and Developmental Biology, Director of Nephrology and Hypertension, Director of Clinical Nephrology Laboratories, CEO of Dialysis Unit, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine

Prasad Devarajan, MD is a member of the following medical societies: American Heart Association, American Society of Nephrology, American Society of Pediatric Nephrology, National Kidney Foundation, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Specialty Editor Board

Uri S Alon, MD  Director of Bone and Mineral Disorders Clinic and Renal Research Laboratory, Children's Mercy Hospital of Kansas City; Professor, Department of Pediatrics, Division of Pediatric Nephrology, University of Missouri-Kansas City School of Medicine

Uri S Alon, MD is a member of the following medical societies: American Federation for Medical 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.

Luther Travis, MD  Professor Emeritus, Departments of Pediatrics, Nephrology and Diabetes, University of Texas Medical Branch School of Medicine

Luther Travis, MD is a member of the following medical societies: Alpha Omega Alpha, American Federation for Medical Research, International Society of Nephrology, and Texas Pediatric Society

Disclosure: Nothing to disclose.

Howard Trachtman, MD  Program Director, Pediatrics Research, Schneider Children's Hospital, Department of Pediatrics, Division of Nephrology, Professor, Albert Einstein College of Medicine

Howard Trachtman, MD is a member of the following medical societies: American Society of Hypertension, American Society of Nephrology, American Society of Pediatric Nephrology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Chief Editor

Craig B Langman, MD  The Isaac A Abt, MD, Professor of Kidney Diseases, Northwestern University, The Feinberg School of Medicine; Division Head of Kidney Diseases, Children's Memorial Hospital

Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Nephrology, and International Society of Nephrology

Disclosure: NIH Grant/research funds None; Raptor Pharmaceuticals, Inc Grant/research funds None; Alexion Pharmaceuticals, Inc. Grant/research funds None

References

  1. Kashtan CE. Familial hematuria. Pediatr Nephrol. Oct 2007;[Medline].

  2. Gross O. Understanding renal disorders as systemic diseases: the fascinating world of basement membranes beyond the glomerulus. Nephrol Dial Transplant. Jun 2008;23(6):1823-5. [Medline].

  3. Gubler MC. Inherited diseases of the glomerular basement membrane. Nat Clin Pract Nephrol. Jan 2008;4(1):24-37. [Medline].

  4. Meloni I, Vitelli F, Pucci L, et al. Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR). J Med Genet. May 2002;39(5):359-65. [Medline].

  5. United States Renal Data System. Annual Data Report 2008. USRDS - ADR. Available at http://www.usrds.org/adr.htm. Accessed September 20, 2008.

  6. Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol. Oct 2003;14(10):2603-10. [Medline].

  7. Rheault MN. Women and Alport syndrome. Pediatr Nephrol. Mar 5 2011;[Medline].

  8. Gupta A, Ramesh Babu K, Srinivasan R, Mohanty D. Clear lens extraction in Alport syndrome with combined anterior and posterior lenticonus or ruptured anterior lens capsule. J Cataract Refract Surg. Nov 2011;37(11):2075-8. [Medline].

  9. Jain C, Malik VK, Kamboj R, Kumar S, Kumar S, Jain K. Alport Syndrome: case report and review of ocular manifestations. Nepal J Ophthalmol. Jul 2011;3(6):118-90. [Medline].

  10. Patey-Mariaud de Serre N, Garfa M, Bessieres B, Noel LH, Knebelmann B. Collagen alpha5 and alpha2(IV) chain coexpression: analysis of skin biopsies of Alport patients. Kidney Int. Aug 2007;72(4):512-6. [Medline].

  11. Gubler MC. Diagnosis of Alport Syndrome without biopsy?. Pediatr Nephrol. May/2007;22:621-5. [Medline].

  12. Artuso R, Fallerini C, Dosa L, Scionti F, Clementi M, Garosi G, et al. Advances in Alport syndrome diagnosis using next-generation sequencing. Eur J Hum Genet. Sep 7 2011;[Medline].

  13. Charbit M, Gubler MC, Dechaux M, et al. Cyclosporin therapy in patients with Alport syndrome. Pediatr Nephrol. Jan 2007;22(1):57-63. [Medline].

  14. Kashtan CE. Renal transplantation in patients with Alport syndrome. Pediatr Transplant. Sept 2006;10:651-7. [Medline].

  15. Mojahedi MJ, Hekmat R, Ahmadnia H. Kidney transplantation in patients with alport syndrome. Urol J. Fall 2007;4(4):234-7. [Medline].

  16. Callis L, Vila A, Carrera M, Nieto J. Long-term effects of cyclosporine A in Alport's syndrome. Kidney Int. Mar 1999;55(3):1051-6. [Medline].

  17. Anker MC, Arnemann J, Neumann K, et al. Alport syndrome with diffuse leiomyomatosis. Am J Med Genet A. Jun 15 2003;119(3):381-5. [Medline].

  18. Cohen EP, Lemann J Jr. In hereditary nephritis angiotensin-converting enzyme inhibition decreases proteinuria and may slow the rate of progression. Am J Kidney Dis. Feb 1996;27(2):199-203. [Medline].

  19. Copelovitch L, Kaplan BS. Is genetic testing of healthy pre-symptomatic children with possible Alport syndrome ethical?. Pediatr Nephrol. Apr 2006;21(4):455-6. [Medline].

  20. Dong F, Li S, Pujol-Moix N, et al. Genotype-phenotype correlation in MYH9-related thrombocytopenia. Br J Haematol. Aug 2005;130(4):620-7. [Medline].

  21. Ghiggeri GM, Caridi G, Magrini U, et al. Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). Am J Kidney Dis. Jan 2003;41(1):95-104. [Medline].

  22. Gregory MC. Alport syndrome and thin basement membrane nephropathy: unraveling the tangled strands of type IV collagen. Kidney Int. Mar 2004;65(3):1109-10. [Medline].

  23. Gubler MC, Knebelmann B, Antignac C, et al. Inherited glomerular disease. In: Inherited glomerular disease. Pediatric Nephrology. 4th Edition. Williams & Wilkins; 1999:475-95.

  24. Heidet L, Arrondel C, Forestier L. Structure of the human type iv collagen gene col4a3 and mutations in autosomal Alport syndrome. J Am Soc Nephrol. Jan 2001;12(1):97-106. [Medline].

  25. Hu A, Wang F, Sellers JR. Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function. J Biol Chem. Nov 29 2002;277(48):46512-7. [Medline].

  26. Hudson BG. The molecular basis of Goodpasture and Alport syndromes: beacons for the discovery of the collagen IV family. J Am Soc Nephrol. Oct 2004;15(10):2514-27. [Medline].

  27. Hudson BG, Tryggvason K, Sundaramoorthy M, Neilson EG. Alport's syndrome, Goodpasture's syndrome, and type IV collagen. N Engl J Med. Jun 19 2003;348(25):2543-56. [Medline].

  28. Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol. Apr 2000;11(4):649-57. [Medline].

  29. Kashtan CE. Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy. Curr Opin Pediatr. Apr 2004;16(2):177-81. [Medline].

  30. Kashtan CE. Familial hematurias: what we know and what we don't. Pediatr Nephrol. Aug 2005;20(8):1027-35. [Medline].

  31. Longo I, Porcedda P, Mari F, et al. COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. Kidney Int. Jun 2002;61(6):1947-56. [Medline].

  32. Longo I, Scala E, Mari F, et al. Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families. Nephrol Dial Transplant. Mar 2006;21(3):665-71. [Medline].

  33. Martin P, Heiskari N, Zhou J, et al. High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing. J Am Soc Nephrol. Dec 1998;9(12):2291-301. [Medline].

  34. Mazzucco G, Barsotti P, Muda AO, et al. Ultrastructural and immunohistochemical findings in Alport's syndrome: a study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations. J Am Soc Nephrol. Jun 1998;9(6):1023-31. [Medline].

  35. Meloni I, Muscettola M, Raynaud M, et al. FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Nat Genet. Apr 2002;30(4):436-40. [Medline].

  36. Nagel M, Nagorka S, Gross O. Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. Hum Mutat. Jul 2005;26(1):60. [Medline].

  37. Pescucci C, Mari F, Longo I, et al. Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. Kidney Int. May 2004;65(5):1598-603. [Medline].

  38. Pirson Y. Making the diagnosis of Alport's syndrome. Kidney Int. Aug 1999;56(2):760-75. [Medline].

  39. Proesmans W, Van Dyck M. Enalapril in children with Alport syndrome. Pediatr Nephrol. Mar 2004;19(3):271-5. [Medline].

  40. Slajpah M, Meglic A, Furlan P, Glavac D. The importance of non-invasive genetic analysis in the initial diagnostics of Alport syndrome in young patients. Pediatr Nephrol. Sep 2005;20(9):1260-4. [Medline].

  41. Takemura T, Yanagida H, Yagi K, et al. Alport syndrome and benign familial hematuria (thin basement membranedisease) in two brothers of a family with hematuria. Clin Nephrol. Sep 2003;60(3):195-200. [Medline].

  42. Toren A, Rozenfeld-Granot G, Rocca B. Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13. Blood. Nov 15 2000;96(10):3447-51. [Medline].

  43. Wang F, Wang Y, Ding J, Yang J. Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts. Kidney Int. Apr 2005;67(4):1268-74. [Medline].

  44. White RH, Raafat F, Milford DV, et al. The Alport nephropathy: clinicopathological correlations. Pediatr Nephrol. Jul 2005;20(7):897-903. [Medline].

  45. Yachnin T, Iaina A, Schwartz D, Nakache R. The mother of an Alport's syndrome patient: a safe kidney donor?. Nephrol Dial Transplant. Apr 2002;17(4):683-4. [Medline].

 
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Electron micrograph from a patient with Alport syndrome revealing the typical splitting and splintering of the glomerular basement membrane (original magnification X3000). Courtesy of Glen S. Markowitz, MD, Department of Pathology, Columbia University College of Physicians and Surgeons, New York.
 
 
 
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