4 results on '"An, Ming‐Hui"'
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2. A novel mutation in complement 2 accompanied by susceptibility variants in C3 glomerulonephritis: A case study
- Author
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Sha-sha Han, Xiao-juan Yu, Su-xia Wang, Fu-de Zhou, Feng Yu, and Ming-hui Zhao
- Subjects
Diseases of the genitourinary system. Urology ,RC870-923 - Abstract
Background: C3 glomerulonephritis is a rare, chronic disease characterized by C3c-dominant staining on renal biopsy and is caused by inherited or acquired alternative complement pathway dysregulation. Case presentation: Here, we reported a 36-year-old man presenting with nephritic syndrome and normal renal function. Secondary causes were excluded by detailed clinical history and laboratory tests. His renal biopsy was consistent with C3 glomerulonephritis with a membranoproliferative glomerulonephritis pattern. To identify the etiology, we carried out genetic and autoantibody screening tests. The results showed he was negative for autoantibodies, while the next-generation sequencing revealed common variants of complement factor H (c.1204T>C; p.Tyr402His), (c.184G>A; p.Val62Ile) and thrombomodulin (c.1418C>T; p.Ala473Val), which have previously been reported to increase susceptibility to complement-mediated diseases. He also carried complement factor H (c.2808G>T; p.Glu936Asp) and mannose-binding lectin (c.161G>A; p.Gly54Asp), putting the patient at an increased risk of infections, which was an important trigger for C3 glomerulonephritis. A novel variant of complement 2 (c.53A>G; p.His18Arg) that might contribute to the occurrence of C3 glomerulonephritis when combined with these susceptibility variants was further identified. The patient was treated with ramipril and regular fresh frozen plasma infusion. He had a good response to treatment with well-controlled proteinuria, stable renal function and an increasing serum C3 level. Conclusions: This case adds insight into the pathogenesis of C3 glomerulopathy by showing that a combination of susceptibility variants, genetic mutations and triggers might be responsible for the clinical and pathological phenotypes. Resumen: Antecedentes: La glomerulonefritis C3 es una enfermedad rara y crónica caracterizada por tinción dominante en C3c en la biopsia renal y es causada por una desregulación de la ruta alternativa del complemento heredada o adquirida. Presentación del caso: Informamos sobre un varón de 36 años que presenta síndrome nefrítico y función renal normal. Las causas secundarias fueron excluidas por la historia clínica detallada y las pruebas de laboratorio. Su biopsia renal fue consistente con glomerulonefritis C3, con un patrón de glomerulonefritis membranoproliferativa. Para identificar la etiología realizamos pruebas de cribado genéticas y de autoanticuerpos. Los resultados mostraron que era negativo para autoanticuerpos, mientras que la secuenciación de próxima generación reveló variantes comunes del factor del complemento H (c.1204T>C; p.Tyr402His), (c.184G>A; p.Val62Ile) y trombomodulina (c.1418C>T; p.Ala473Val), que previamente se había informado que aumentaban la susceptibilidad a las enfermedades mediadas por el complemento. También tuvo factor del complemento H (c.2808G>T; p.Glu936Asp) y lectina de unión a manosa (c.161G>A; p.Gly54Asp), que aumentaba el riesgo de infección para el paciente, y que fue un desencadenante importante para glomerulonefritis C3. Una nueva variante del complemento 2 (c.53A>G; p.His18Arg) que podría contribuir a la aparición de glomerulonefritis C3 cuando se combina con estas variantes de susceptibilidad fue identificado. El paciente fue tratado con ramipril e infusión regular de plasma fresco congelado. Tuvo una buena reacción al tratamiento con proteinuria bien controlada, función renal estable y un aumento de suero del nivel C3. Conclusiones: Este caso agrega una idea de la patogénesis de la glomerulopatía C3 al mostrar que una combinación de variantes de susceptibilidad, mutaciones genéticas y desencadenantes podría ser responsable de los fenotipos clínicos y patológicos. Keywords: C3 glomerulonephritis, Membranoproliferative glomerulonephritis, Alternative pathway, Complement 2, Susceptibility variants, Palabras clave: Glomerulonefritis C3, Glomerulonefritis membranoproliferativa, Ruta alternativa, Complemento 2, Variantes de susceptibilidad
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- 2019
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3. 69 - Complicaciones cardiovasculares de los fármacos para el cáncer
- Author
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Chen, Ming Hui and Force, Thomas
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- 2016
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4. Colaboradores
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Aaronson, Keith D., Abraham, William T., Acker, Michael A., Ackerman, Michael J., Antman, Elliott M., Baddour, Larry M., Baggish, Aaron, Bairey Merz, C. Noel, Balady, Gary J., Beckman, Joshua A., Bers, Donald M., Bettman, Michael A., Bhatt, Deepak L., Boden, William E., Bonow, Robert O., Braunwald, Eugene, Braverman, Alan C., Bremner, J. Douglas, Buring, Julie E., Calkins, Hugh G., Cannon, Christopher P., Canty, John M., Jr., Carroll, John D., Castellanos, Augustin, Chen, Ming Hui, Cooper, Leslie T., Jr., Creager, Mark A., Davidson, Charles J., Devries, Stephen, Dickert, Neal W., Dilsizian, Vasken, Duncker, Dirk J., Emanuel, Ezekiel J., Falk, Rodney H., Fang, James C., Felker, G. Michael, Fisher, Stacy D., Fleisher, Lee A., Force, Thomas, Freeman, William K., Gaziano, J. Michael, Gaziano, Thomas A., Genest, Jacques, Gerszten, Robert E., Gillam, Linda, Ginsburg, Geoffrey S., Giugliano, Robert P., Goldberger, Ary L., Goldhaber, Samuel Z., Goldstein, Larry B., Goodlin, Sarah J., Groh, William J., Gulati, Martha, Hajjar, Roger J., Hare, Joshua M., Hasenfuss, Gerd, Hershberger, Ray E., Hillis, L. David, Hopkins, William E., Humbert, Marc, Januzzi, James L., Jr., Jessup, Mariell, Kathiresan, Sekar, Kinlay, Scott, Klein, Irwin, Knowlton, Kirk U., Krumholz, Harlan M., Kwong, Raymond Y., Lange, Richard A., Lee, Thomas H., Lenihan, Daniel J., LeWinter, Martin M., Libby, Peter, Lipshultz, Steven E., Little, William C., Mann, Douglas L., Maron, Barry J., Mason, Justin C., Masoudi, Frederick A., Mattox, Kenneth L., Mauri, Laura, Mayosi, Bongani M., McCullough, Peter A., McGuire, Darren K., McLaughlin, Vallerie V., Mega, Jessica L., Miller, John M., Mirvis, David M., Morady, Fred, Morise, Anthony P., Morrow, David A., Mozaffarian, Dariush, Musunuru, Kiran, Myerburg, Robert J., O’Gara, Patrick T., Olgin, Jeffrey E., Olivotto, Iacopo, Opie, Lionel H., Otto, Catherine M., Pagani, Francis D., Piña, Ileana L., Popma, Jeffrey J., Prabhakaran, Dorairaj, Redington, Andrew N., Ridker, Paul M., Roden, Dan M., Rubart, Michael, Rumsfeld, John S., Sabatine, Marc S., Schwartz, Janice B., Scirica, Benjamin M., Smallhorn, Jeffrey F., Solomon, Scott D., Somers, Virend K., Suri, Rakesh M., Swerdlow, Charles D., Taylor, Allen J., Taylor, Anne L., Teerlink, John R., Tester, David J., Therrien, Judith, Thompson, Paul D., Tsai, Peter I., Udelson, James E., Vaccarino, Viola, Victor, Ronald G., Wall, Matthew J., Jr., Wang, Paul J., Warnes, Carole A., Webb, Gary D., Webb, John G., Weitz, Jeffrey I., Wilson, Walter R., Wright, Jackson T., Wamique Yusuf, Syed, Wiviott, Stephen D., Wu, Justina, Zile, Michael R., and Zipes, Douglas P.
- Published
- 2016
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- View/download PDF
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