Daily low-dose prednisolone to prevent relapse of steroid-sensitive nephrotic syndrome in children with an upper respiratory tract infection: PREDNOS2 RCT

Autor: Martin T Christian, Nicholas JA Webb, Rebecca L Woolley, Nafsika Afentou, Samir Mehta, Emma Frew, Elizabeth A Brettell, Adam R Khan, David V Milford, Detlef Bockenhauer, Moin A Saleem, Angela S Hall, Ania Koziell, Heather Maxwell, Shivaram Hegde, Eric R Finlay, Rodney D Gilbert, Caroline Jones, Karl McKeever, Wendy Cook, Natalie Ives

Publikováno v: Health Technology Assessment, Vol 26, Iss 3 (2022)

Background: Most children with steroid-sensitive nephrotic syndrome have relapses that are triggered by upper respiratory tract infections. Four small trials, mostly in children already taking maintenance corticosteroid in countries of different uppe

Externí odkaz: https://doaj.org/article/7bfec51e091e4c2a9b8d1ac71146dfcf

FAT1 mutations cause a glomerulotubular nephropathy

Autor: Heon Yung Gee, Carolin E. Sadowski, Pardeep K. Aggarwal, Jonathan D. Porath, Toma A. Yakulov, Markus Schueler, Svjetlana Lovric, Shazia Ashraf, Daniela A. Braun, Jan Halbritter, Humphrey Fang, Rannar Airik, Virginia Vega-Warner, Kyeong Jee Cho, Timothy A. Chan, Luc G. T. Morris, Charles ffrench-Constant, Nicholas Allen, Helen McNeill, Rainer Büscher, Henriette Kyrieleis, Michael Wallot, Ariana Gaspert, Thomas Kistler, David V. Milford, Moin A. Saleem, Wee Teik Keng, Stephen I. Alexander, Rudolph P. Valentini, Christoph Licht, Jun C. Teh, Radovan Bogdanovic, Ania Koziell, Agnieszka Bierzynska, Neveen A. Soliman, Edgar A. Otto, Richard P. Lifton, Lawrence B. Holzman, Nicholas E. S. Sibinga, Gerd Walz, Alda Tufro, Friedhelm Hildebrandt

Publikováno v: Nature Communications, Vol 7, Iss 1, Pp 1-11 (2016)

Steroid-sensitive nephrotic syndrome (SRNS) can cause CKD and necessitate kidney transplant. Here the authors identify FAT1 mutations by homozygosity mapping and whole-exome sequencing in families with SRNS and provide functional mouse and zebrafish

Externí odkaz: https://doaj.org/article/28d36207928640028a9a892d5c32fd4f

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

Autor: Verena Klämbt, Youying Mao, Vimla Aggarwal, Arang Kim, Friedhelm Hildebrandt, Mohamad A. Mikati, Vandana Shashi, Anne H. O’Donnell-Luria, Vaidehi Jobanputra, Jeremiah Martino, Vivette D. D'Agati, Minxian Wang, Marcus R. Benz, Shoji Yano, Janine Altmüller, Ali G. Gharavi, Florian Buerger, Enrico Fiaccadori, Richard P. Lifton, Bodo B. Beck, Amy Kolb, Mordi Muorah, David Goldstein, Nina Mann, Martin R. Pollak, Dina Ahram, Heidi Cope, Gian Marco Ghiggeri, Jillian S. Parboosingh, Asmaa S. AbuMaziad, Kamal Khan, Ana C. Onuchic-Whitford, Louise Bier, Emma Pierce-Hoffman, Jonathan E. Zuckerman, Shrikant Mane, Moin A. Saleem, Amar J. Majmundar, Heidi L. Rehm, Ora Yadin, Erin L. Heinzen, Gina Y. Jin, Christelle Moufawad El Achkar, Konstantin Deutsch, Julia Hoefele, Ania Koziell, Gianluca Caridi, Talha Gunduz, Agnieszka Bierzynska, Korbinian M. Riedhammer, Monica Bodria, Ronen Schneider, Julian A. Martinez-Agosto, Thomas M. Kitzler, Shirlee Shril, Ulrike John-Kroegel, Howard Trachtman, Adele Mitrotti, Eleanor G. Seaby, Amanda V. Tyndall, Isabella Pisani, Patricia L. Weng, Tze Y Lim, A. Micheil Innes, John Musgrove, Simone Sanna-Cherchi, Erica E. Davis

Publikováno v: Am J Hum Genet

Focal segmental glomerulosclerosis (FSGS) is the main pathology underlying steroid-resistant nephrotic syndrome (SRNS) and a leading cause of chronic kidney disease. Monogenic forms of pediatric SRNS are predominantly caused by recessive mutations, w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7969111fa124c459f42b18f37374a18
https://doi.org/10.1016/j.ajhg.2021.01.008

Guidelines for genetic testing and management of Alport syndrome

Autor: Judy Savige, Beata S. Lipska-Zietkiewicz, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith al-Rabadi, Kathleen Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabet Ars, Agnieszka Bierzynska, Concetta Gangemi, Alessandra Renieri, Helen Storey, Frances Flinter

Publikováno v: Clinical Journal of the American Society of Nephrology
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Universidad Europea (UEM)
Clin J Am Soc Nephrol
Clinical journal of the American Society of Nephrology, 17(1), 143-154. American Society of Nephrology
Savige, J, Lipska-Zietkiewicz, B S, Watson, E, Hertz, J M, Deltas, C, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, D G, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, H M, Hoefele, J, Zacchia, M, Martic, T N, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, Al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E, Bierzynska, A, Gangemi, C, Renieri, A, Storey, H & Flinter, F 2022, ' Guidelines for Genetic Testing and Management of Alport Syndrome ', Clinical Journal of American Society of Nephrology., vol. 17, no. 1, pp. 143-154 . https://doi.org/10.2215/CJN.04230321

Genetic testing for pathogenic COL4A3-5 variants is usually undertaken to investigate the cause of persistent hematuria, especially with a family history of hematuria or kidney function impairment. Alport syndrome experts now advocate genetic testing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0851184c2730de09da5d744112eb31e8
https://www.bib.irb.hr/1197195

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways

Autor: Guillaume Dorval, Stéphanie Miserey-Lenkei, Moin A. Saleem, Gavin I. Welsh, Olivier Gribouval, Olivia Boyer, Shuman Haq, Alain Schmitt, Corinne Antignac, Agnieszka Bierzynska, Valeryia Kuzmuk, Ania Koziell, Géraldine Mollet, Alexandre Benmerah

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, 2019, 104 (2), pp.348-355. ⟨10.1016/j.ajhg.2018.12.016⟩
Dorval, G, Kuzmuk, V, Gribouval, O, Welsh, G, Bierzynska, A, Schmitt, A, Miserey-Lenkei, S, Koziell, A, Haq, S, Benmerah, A, Mollet, G, Boyer, O, Saleem, M & Antignac, C 2019, ' TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways ', American Journal of Human Genetics, vol. 104, no. 2, pp. 348-355 . https://doi.org/10.1016/j.ajhg.2018.12.016

International audience; Steroid-resistant nephrotic syndrome (SRNS) is characterized by high-range proteinuria and most often focal and segmental glomerulosclerosis (FSGS). Identification of mutations in genes causing SRNS has improved our understand

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0627de007cc5342f5bd093b68dfb4955
https://doi.org/10.1016/j.ajhg.2018.12.016