Department of Internal Medicine

Nephrology Faculty

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Richard J.H. Smith, M.D.
Professor of Otolaryngology and Internal Medicine

Dr. Smith directs the Molecular Otolaryngology and Renal Research Laboratories (MORL). His clinical and research interests include complement-mediated renal diseases especially Dense Deposit Disease (DDD, also known as membranoproliferative glomerulonephritis type II or MPGN II) and atypical Hemolytic Uremic Syndrome (aHUS). The Clinical Diagnostics Division of the MORL is CLIA approved and Joint Commission accredited to provide mutation screening of numerous complement genes in patients with DDD and aHUS. Graduate students in the Research Division are also exploring the genetics of these two complex diseases to understand disease pathophysiology and to identify possible therapies. The MORL maintains the largest DDD patient database in the world and the largest aHUS patient database in North America.

Links of Interest

• Department of Otolaryngology and Head & Neck Surgery

Honors, Awards and Organizations

• American Medical Association
• American College of Surgeons
• American Academy of Pediatrics
• American Academy of Otolaryngology - Head and Neck Surgery
• American Society of Human Genetics
• Annals of Otology, Laryngology, & Rhinology, Editor-in-Chief
• The Institute of Medicine of the National Academies
• Association of American Physicians

Select Publications

1. Maga TK, Nishimura CJ, Weaver AE, Frees KL, Smith RJH. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Hum Mut 2010 Apr 13 [Epub ahead of print].
2. Sethi S, Zand L, Leung N, Smith RJH, Jevremonic D, Herrmann SS, Fervenza FC. Membranoproliferative glomerulonephritis secondary to monoclonal gammopathy. Clin J Am Soc Nephrol 2010 Feb 6 [Epub ahead of print].
3. Tawadrous H, Maga T, Sharma J, Smith RJH, Schoeneman M. A novel mutation in the Complement Factor B gene (CFB) associated with atypical hemolytic uremic syndrome. Pediatr Nephrol 2010 Jan 27 [Epub ahead of print]; 25:947-51, 2010.
4. Sethi S, Gamez J, Vrana JA, Theis JD, Bergen HR, Zipfel PF, Dogan A, Smith RJH. Glomeruli of Dense Deposit Disease contain components of the alternative and terminal complement pathway. Kidney Inter. 2009 Jan 29 [Epub ahead of print] 75(9):952-60, 2009.
5. Zipfel PF, Smith RJH, Skerka C. Factor I and Factor H deficiency in renal diseases: similar defects in the fluid phase have a different outcome at the surface of the glomerular basement membrane. Nephrol Dial Transplant 2008 Dec 4 [Epub ahead of print] 24(2):385-387, 2009.
6. Chan MR, Thomas CP, Torrealba JR, Djamali A, Fernandez LA, Nishimura CJ, Smith RJH, Samaniego MD. Recurrent atypical Hemolytic Uremic Syndrome associated with Factor I mutation in a living related renal transplant recipient. Am J Kid Dis 2008 Sept 19 [Epub ahead of print]; 53:321-6, 2009.
7. Lau KK, Smith RJH, Kolbeck PC, Butani L. Dense Deposit Disease and the factor H H402 allele. Clin Exp Nephrol 2007 Dec 17 [Epub ahead of print]; 12:228-32, 2008.
8. Smith RJH, Alexander J, Barlow PN, Botto M, Casavant TL, Cook HT, de Cordoba SR, Hageman GS, Jokiranta S, Kimberling WJ, Lambris JD, Lanning LD, Levidiotis V, Licht C, Lutz HU, Meri S Pickering MC, Quigg RJ, Rops AL, Salant DJ, Sethi S, Thurman JM, Tully HF, Tully SP, Van der Vlag J, Walker PD, Wurzner R, Zipfel PF. New approaches to the treatment of Dense Deposit Disease. J Am Soc Nephrol 2007 Aug 5 [Epub ahead of print]; 18:2447-56, 2007.
9. Abrera-Abeleda, M.A., Nishimura, C., Smith, J.L.H., Sethi, S., McRae, J.L., Murphy, B.F., Silvestri, G., Skerka, C., Józsi, M., Zipfel, P.F., Hageman, G.S., Smith, R.J.H. Variations in the Complement Regulatory Genes Factor H ( CFH ) and Factor H Related 5 ( CFHR5 ) are Associated with Membranoproliferative Glomerulonephritis Type II (Dense Deposit Disease). J Med Genet Online First: 18 November 2005.
10. Hageman, G.S., Hancox, L.S., Hardisty, L.I., Borchardt, J.D., Taiber, A.J., Hageman, J.L., Stockman, H.A., Gehrs, K.M., Russell, Anderson, D.H., Johnson, L.V., Smith, R.J.H., Silvestri, G., Olsh, A.K., Bergeron, J., Zernant, J., Merriam, J., Gold, B., Dean, M., Allikmets, R. Common haplotype in the complement regulatory gene, factor H ( HF1/CFH ), predisposes individuals to age-related macular degeneration. Proc Nat Acad Sci 102:7227-32, 2005.
11. Appel, G.B., Cook, H.T., Hageman, G., Jennette, J.C., Kashgarian, M., Kirschfink, M., Lambris, J.D., Lanning, L., Lutz, H.U., Meri, S., Rose, N.R., Salant, D.J., Sethi, S., Smith, R.J.H., Smoyer, W., Tully, H.F., Tully, S.P., Walker, P., Welsh, M., Wurzner, R., Zipfel, P.F.. Membranoproliferative Glomerulonephritis Type II (Dense Deposit Disease): An Update. J Am Nephrol Soc 16: 1392-1403, 2005.

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