Journal Watch
Tubulopathies
A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia.
Author(s): Yang W, Zhao S, Xie Y, Mo Z Source: BMC Nephrol 2018 Dec 17;19(1):362 Publication date: 2018-12-17
Effect of nonsteroidal anti-inflammatory drugs in children with Bartter syndrome.
Author(s): Gasongo G, Greenbaum LA, Niel O, Kwon T, Macher MA, Maisin A, Baudouin V, Dossier C, Deschênes G, Hogan J Source: Pediatr Nephrol 2018 Nov 13; Publication date: 2018-11-13
Bartter Syndrome and GH Deficiency: three siblings with a novel CLCNKB mutation.
Author(s): Brambilla I, Poddighe D, Mantelli SS, Guarracino C, Marseglia GL Source: Pediatr Int 2018 Nov 2; Publication date: 2018-11-2
Vps34/PI3KC3 deletion in kidney proximal tubules impairs apical trafficking and blocks autophagic flux, causing a Fanconi-like syndrome and renal insufficiency.
Author(s): Grieco G, Janssens V, Gaide Chevronnay HP, N'Kuli F, Van Der Smissen P, Wang T, Shan J, Vainio S, Bilanges B, Jouret F, Vanhaesebroeck B, Pierreux CE, Courtoy PJ Source: Sci Rep 2018 Sep 20;8(1):14133 Publication date: 2018-09-20
Liquorice, Liddle, Bartter or Gitelman-how to differentiate?
Author(s): Mumford E, Unwin RJ, Walsh SB Source: Nephrol Dial Transplant 2018 Jul 2; Publication date: 2018-07-2 |
Thematic areasHereditary glomerulopathies Immune glomerulopathies Tubulopathies Metabolic and stone disorders Thrombotic microangiopathies AD structural kidney disorders Renal malformations and ciliopathies Obstructive nephropathies Pediatric CKD and dialysis Pediatric kidney transplantationRecently added publications |