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nephrotic syndrone

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https://www.readbyqxmd.com/read/29058154/clinical-and-genetic-heterogeneity-in-familial-steroid-sensitive-nephrotic-syndrome
#1
Guillaume Dorval, Olivier Gribouval, Vanesa Martinez-Barquero, Eduardo Machuca, Marie-Josèphe Tête, Véronique Baudouin, Stéphane Benoit, Imen Chabchoub, Gérard Champion, Dominique Chauveau, Hassib Chehade, Chokri Chouchane, Sylvie Cloarec, Pierre Cochat, Karin Dahan, Jacques Dantal, Yahsou Delmas, Georges Deschênes, Phillippe Dolhem, Dominique Durand, Zelal Ekinci, Khalil El Karoui, Michel Fischbach, Jean-Pierre Grunfeld, Vincent Guigonis, Mongia Hachicha, Julien Hogan, Maryvonne Hourmant, Aurélie Hummel, Nassim Kamar, Thierry Krummel, Didier Lacombe, Brigitte Llanas, Laurent Mesnard, Nabil Mohsin, Patrick Niaudet, Hubert Nivet, Paloma Parvex, Christine Pietrement, Loic de Pontual, Claire Pouteil Noble, David Ribes, Pierre Ronco, Eric Rondeau, Marion Sallee, Michel Tsimaratos, Tim Ulinski, Rémi Salomon, Corinne Antignac, Olivia Boyer
BACKGROUND: Familial steroid-sensitive nephrotic syndrome (SSNS) is a rare condition. The disease pathophysiology remains elusive. However, bi-allelic mutations in the EMP2 gene were identified, and specific variations in HLA-DQA1 were linked to a high risk of developing the disease. METHODS: Clinical data were analyzed in 59 SSNS families. EMP2 gene was sequenced in families with a potential autosomal recessive (AR) inheritance. Exome sequencing was performed in a subset of 13 families with potential AR inheritance...
October 23, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/14325009/-polycythemia-associated-with-the-nephrotic-syndrone
#2
Y SAMESHIMA, T MIZUNO
No abstract text is available yet for this article.
January 10, 1965: Nihon Naika Gakkai Zasshi. the Journal of the Japanese Society of Internal Medicine
https://www.readbyqxmd.com/read/9648076/concentrating-defect-in-experimental-nephrotic-syndrone-altered-expression-of-aquaporins-and-thick-ascending-limb-na-transporters
#3
P Fernández-Llama, P Andrews, C A Ecelbarger, S Nielsen, M Knepper
BACKGROUND: Several pathophysiological states associated with deranged water balance are associated with altered expression and/or intracellular distribution of aquaporin water channels. The possible role of dysregulation of thick ascending limb NaCl transporters, which are responsible for countercurrent multiplication in the kidney, has not been evaluated. METHODS: Semiquantitative immunoblotting and immunocytochemistry were carried out in the kidneys of rat with adriamycin-induced nephrotic syndrome and in vehicle-injected control rats...
July 1998: Kidney International
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