Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype

Autor: Senum, S.R., Li, Y.M., Benson, K.A., Joli, G., Olinger, E., Lavu, S., Madsen, C.D., Gregory, A.V., Neatu, R., Kline, T.L., Audrezet, M.P., Outeda, P., Nau, C.B., Meijer, E., Ali, H., Steinman, T.I., Mrug, M., Phelan, P.J., Watnick, T.J., Peters, D.J.M., Ong, A.C.M., Conlon, P.J., Perrone, R.D., Gall, E.C.L., Hogan, M.C., Torres, V.E., Saver, J.A., Harris, P.C., Genomics England Res Consortium, HALT PKD, CRISP, DIPAK, ADPKD Modifier, TAME PKD studies

Publikováno v: Am J Hum Genet
American Journal of Human Genetics, 109(1), 136-156. CELL PRESS
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2022, 109 (1), pp.136-156. ⟨10.1016/j.ajhg.2021.11.016⟩

International audience; Autosomal dominant polycystic kidney disease (ADPKD), characterized by progressive cyst formation/expansion, results in enlarged kidneys and often end stage kidney disease. ADPKD is genetically heterogeneous; PKD1 and PKD2 are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::183928f9db35fd45f0abc517af272c58
https://pubmed.ncbi.nlm.nih.gov/34890546

Tolvaptan-induced remission of primary palmar hyperhidrosis in a patient with ADPKD: a serendipitous finding.

Autor: Cuka, E., Vespa, M., Joli, G., Manunta, P., Sciarrone Alibrandi, T. M.

Publikováno v: Journal of Nephrology (JNonline); Mar2022, Vol. 35 Issue 2, p671-674, 4p

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Tolvaptan-induced remission of primary palmar hyperhidrosis in a patient with ADPKD: a serendipitous finding

Autor: E Cuka, G Joli, M Vespa, T M Sciarrone Alibrandi, P Manunta

Publikováno v: Journal of nephrology. 35(2)

A 37-year old man had suffered palmar hyperhidrosis since he was fifteen years old. In the last year, he has been treated with tolvaptan for autosomic polycystic kidney disease (ADPKD). The start of tolvaptan therapy was associated with a complete re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ef42c4e6aad3755a9158fcc3a44e825
https://pubmed.ncbi.nlm.nih.gov/33555573