Renal physiology and tubulopathies

Director : 

Gilles Crambert

Deputy Director : 

Pascal Houillier

We investigate the mechanisms by which the kidney regulates ionic transport and the mechanisms of related disorders (tubulopathies). We perform segmental analysis of mRNA/protein expression, measurements of ion fluxes, transepithelial currents or intracellular Ca2+/pH modifications in isolated microdissected tubules, a technology for which we have a very unique expertise. We also investigate metabolic and physiologic parameters in rodents.


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Scientific Themes

Salt homeostasis and its disorders

We are elucidating some aspects of the regulation of Na+ or Cl- transporters and their effects on overall NaCl homeostasis during normal state or pathologies (Bartter and Gitelman syndromes)

Potassium homeostasis and its disorders

We are elucidating some aspects of the regulation of K+ homeostasis during normal state or pathologies (chronic kidney disease, COVID19)

Divalent cation homeostasis and its disorders

We are investigating various aspects of the regulation of Ca2+ and Mg2+ homeostasis during normal and pathological states (Dent disease, hypercalciuria, hypercalcemia, nephrocalcinosis or lithiasis)

Genetic and translational research on tubulopathies

Phenotyping of inherited tubulopathies - phenotype/genotype relationships - clinical and therapeutic trials

Kidney function investigation facility

Our team has developed a unique platform for the analysis of renal tubular functions and ion transport systems in rodents, which is used in most of our studies and is accessible to external investigator.

Main publications

1. Bignon Y, Pinelli L, Frachon N, Lahuna O, Figueres L, Houillier P, Lourdel S, Teulon J, Paulais M. Defective bicarbonate reabsorption in Kir4.2 potassium channel deficient mice impairs acid-base balance and ammonia excretion. Kid Int (2020), 97, 304-315. IF 8.3

2. Blanchard A, Brailly Tabard S, Lamaziere A, Bergerot D, Zhygalina V, Lorthioir A, Jacques A, Hourton D, Azizi M, Crambert G. Adrenal adaptation in potassium-depeletd men : role of progesterone ? Nephrol Dial Transplant, 2019, gfz135 (ahead of print). IF 4.1

3. P. Scudieri, I. Mussante, E. Caci, A. Venturini, P. Morelli, C.Walter, D. Tosi, A. Palleschi, P. Martin-Vassalo, I. Sermet-Gaudelus, G. Planelles, G. Crambert And L. Galietta. Increased expression of ATP12A proton pump in cystic fibrosis airways. JCI insight (2018), 3, pii 123616. IF 6.0

4. Seys E, Andrini O, Keck M, Mansour-Hendili L, Courand PY, Simian C, Deschenes G, Kwon T, Bertholet A, Bobrie G, Borde JS, Bourdat-Michel G, Brochard K, Cailliez M, Charbit M, Cozette P, Davourie A, Dubourge L, Fila M, Jourde-Chiche N, Lavocat MP, Lemoine S, Lichtenberg L, LLanas B, Louillet F, Merieau E, Mileva M, Mota-Vieiria L, Mousson C, Nobili F, Novo R, Roussey-Kesler G, Vrillon I, Walsh S, Teulon J, Blanchard A, Vargas-Poussou R. Clinical and Genetic Spectrum of Type 3 Bartter Syndrome. J Am Soc Nephrol, 2017 ; 28 :2540-2552 : IF 8.5

5. Laghmani K, Beck BB, Yang S-S, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Gobel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmuller J, Nurnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin S-H, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJM, Rinschen MM, de Backer O, Konrad M, and Komhoff M. Polyhydramnios, Transient Antenatal Bartter’s Syndrome, and MAGED2 Mutations. The New England Journal of Medicine 2016; 374: 1853-1863. IF 59.6


All publications