Department of Internal Medicine
Nephrology Faculty
Medical School:
Baylor College of Medicine
Residency:
University of Texas
Health Science Center
Baylor College of Medicine
Fellowship:
The Hospital for Sick Children, London, England
Richard J.H. Smith, M.D.
Professor of Otolaryngology and Internal Medicine
Dr. Smith's research interests include branchio-oto-renal (BOR) syndrome and complement-mediated glomerular diseases with a focus on membranoproliferative glomerulonephritis type II (MPGN II; Dense Deposit Disease, DDD) and atypical Hemolytic Uremic Syndrome (aHUS). The Clinical Diagnostics Division of his laboratory offers mutation screening of EYA1 in persons with a BOR phenotype and Factor H screening in persons with atypical hemolytic uremic syndrome or biopsy proven MPGN II.
Links of Interest
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
- Gene Tests, Gene Clinics, Associate Editor 2003-
- Annals of Otology, Laryngology, & Rhinology, Editor 2004-
- The Institute of Medicine of the National Academies
- Association of American Physicians
Select Publications
- 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.
- 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.
- 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].
- 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.
- 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.
- 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.
- 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.
- 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.
- Zhang, Y., Knosp, B.M., Maconochie, M., Friedman, R.A., Smith, R.J.H. A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. JARO 5:295-304, 2004.
- Chang, E.H., Menezes, M., Meyer, N.C., Cucci, R.A., Vervoort, V.S., Schwartz, C.E., Smith, R.J. Branchio-Oto-Renal Syndrome - The Mutation Spectrum in EYA1 and Its Phenotypic Consequences. Hum Mut 23:582-589, 2004.
