Results 21 to 30 of about 6,399 (205)

mTOR-Activating Mutations in RRAGD are Causative for Kidney Tubulopathy and Cardiomyopathy. [PDF]

, 2021
BACKGROUND: Over the last decade, advances in genetic techniques have resulted in the identification of rare hereditary disorders of renal magnesium and salt handling.
Eltan, M., Thiele, H., Parotte, Marie Christine, Liebau, Max C., François Jouret, Altmüller, Janine, Klingel, K., Liebau, M.C., Oh, Jun, Thiele, Holger, Janine Altmüller, Karin Klingel, Parotte, M.C., Nine V.A.M. Knoers, Knoers, Nine V A M, Schulze-Bahr, Eric, Bodo B. Beck, Baaij, J.H.F. de, Rehmann, Holger, Parotte, Marie-Christine, Jones, Deborah P, Anukrati Nigam, Godefroid, Nathalie, Martin Konrad, Schlingmann, Karl P., Rosa Vargas-Poussou, Claudia Dafinger, Beck, Bodo B, Braun, A., Dahan, K., Shen, Kuang, Jun Oh, Ibars Serra, Maria, Dafinger, C., Braun, Alina, Zwartkruis, F.J., Zwartkruis, Fried J.T., Bos, C., Pascal Houillier, Knoers, N.V.A.M., Kuang Shen, Zwartkruis, Fried, Burtey, Stéphane, Sabatini, David, Vargas-Poussou, Rosa, Arjona, Francisco J., Bernhard Schermer, David Sabatini, Holger Thiele, Schlingmann, Karl P, Zwartkruis, Fried J T, Konrad, M., Burtey, S., Kirsten Y. Renkema, König, J., Bos, Caro, Marie-Christine Parotte, Carsten Bergmann, Jones, D.P., Serra, Maria Ibars, Konrad, Martin, Renkema, K.Y., Kleinerüschkamp, Felix, Houillier, P., Oh, J., Liebau, Max C, Shen, K., Kleinerüschkamp, F., Schlingmann, Karl-Peter, Stéphane Burtey, Alina Braun, Beck, Bodo B., Tülay Güran, Caro Bos, Beck, B.B., Arjona, Francisco, Eltan, Mehmet, Fried J.T. Zwartkruis, Sabatini, D., Felix Kleinerüschkamp, Ibars Serra, M., Jouret, F., Klingel, Karin, Jouret, François, Max C. Liebau, Schermer, Bernhard, Arjona, Francisco J, Schlingmann, K.P., Schulze-Bahr, E., Knoers, Nine, Bergmann, Carsten, Knoers, Nine V.A.M., Beck, Bodo, Karin Dahan, König, Jens, Karl P. Schlingmann, Eric Schulze-Bahr, Jones, Deborah P., Renkema, Kirsten Y, Dahan, Karin, Bergmann, C., Nigam, Anukrati, Schermer, B., Güran, Tülay, Nathalie Godefroid, Francisco J. Arjona, Rehmann, H., Mehmet Eltan, Renkema, Kirsten Y., Godefroid, N., Vargas-Poussou, R., Dafinger, Claudia, de Baaij, Jeroen H F, de Baaij, Jeroen, Deborah P. Jones, de Baaij, Jeroen H.F., Jeroen H.F. de Baaij, Nigam, A., Renkema, Kirsten, Güran, T., Houillier, Pascal, Altmüller, J., Liebau, Max, Arjona, F.J., Jens König, Maria Ibars Serra, Holger Rehmann, Jones, Deborah, Genetica Sectie Research, Cancer, Genetica, Child Health, Baaij, Jeroen H. F. de, Genetica Groep Van Haaften, CMM Groep Bos   +134 more
core   +2 more sources

Bartter Syndrome Presenting with Metabolic Alkalosis: A Case Series [PDF]

Journal of Clinical and Diagnostic Research, 2023
Bartter Syndrome (BS) is a rare, inherited renal tubulopathy characterised by hypokalaemic, hypochloraemic metabolic alkalosis. Children present with the complaint of polyuria, dehydration, failure to thrive and normal blood pressure despite ...
Gulam Mohammed
doaj   +1 more source

Bartter Syndrome With Normal Aldosterone Level and Acute Pancreatitis: An Unusual Presentation. [PDF]

Clin Case Rep
ABSTRACT Bartter syndrome is a rare autosomal recessive renal tubulopathy, which classically presents with hypokalemic metabolic alkalosis, hyperreninemia, and hyperaldosteronism. We report an atypical presentation in a 16‐year‐old male who was diagnosed following an initial manifestation of acute pancreatitis.
Ayaz N, Ullah M, Ahmad W, Ullah F, Khan IU, Naim F, Naeem A, Sajjad F, Kamil KA.   +8 more
europepmc   +2 more sources

Persistent dyselectrolytemia in a neonate induced by liposomal amphotericin B. A case report

Frontiers in Pediatrics, 2023
BackgroundNephrotoxicity is the most frequent serious adverse effect associated with amphotericin B deoxycholate treatment, for this reason, in recent years it has been relegated from routine clinical practice and replaced by the new liposomal ...
Adrian Puertas Sanjuan, Carlos Javier Parramón-Teixidó, Susana Hernandez-Perez, Marie Antoinette Frick, Maria Jose Cabañas Poy   +4 more
doaj   +1 more source

Treatment-limiting renal tubulopathy in patients treated with tenofovir disoproxil fumarate. [PDF]

, 2017
OBJECTIVES: Tenofovir disoproxil fumarate (TDF) is widely used in the treatment or prevention of HIV and hepatitis B infection. TDF may cause renal tubulopathy in a small proportion of recipients.
Levy, JB, Hamzah, L., Hegazi, A, F.A. Post, Jones, R, M. Johnson, Hamzah, L, Hendry, BM, Bailey, A., Johnson, M., Post, FA, Booth, J. W., D.R. Chadwick, Booth, JW, J.W. Booth, D.I. Williams, Rayment, M., J.B. Levy, Hendry, B. M., Hay, P., Chadwick, DR, L. Hamzah, Sabin, CA, Bailey, A, M. Rayment, Williams, DI, Post, F. A., A. Hegazi, P. Hay, Johnson, M, Chadwick, D. R., A. Bailey, Jose, S., Hegazi, A., Jose, S, R. Jones, Levy, J. B., S. Jose, Sabin, C. A., Rayment, M, Hay, P, B.M. Hendry, C.A. Sabin, Williams, D. I., Jones, R.   +44 more
core   +2 more sources

A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly [PDF]

, 2016
We report a novel homozygous missense mutation in the ubiquinol-cytochrome c reductase synthesis-like (BCS1L) gene in two consanguineous Turkish families associated with deafness, Fanconi syndrome (tubulopathy), microcephaly, mental and growth ...
Schaller, André, Chehade, H, Barbey, F., Eggimann, S, Ferrarini, A, Gallati, S, Jackson, C.B., Nuoffer, J-M., Nuoffer, J.M., Eggimann, S., Barbey, F, Hahn, D., Bonafé, L, Tran, C., Bauer, M F, Gallati, S., Bauer, M.F., Haeberli, A., Jackson, C. B., Schaller, A., Jackson, Christopher, Kotzaeridou, U, Tran, C, Nuoffer, Jean-Marc, Bauer, M. F., Hahn, Dagmar Karen, Haeberli, Annemarie, Chehade, H., Kotzaeridou, U., Ferrarini, A., Bonafe, L., Bauer MF, Gallati S, Kotzaeridou U, Eggimann S, Barbey F, Bonafé L, Chehade H, Schaller A, Haeberli A, Tran C, Hahn D, Jackson CB, Ferrarini A, Nuoffer JM   +44 more
core   +3 more sources

Gitelman syndrome associated with chondrocalcinosis and severe neuropathy: a novel heterozygous mutation in SLC12A3 gene

Reumatismo, 2020
Gitelman syndrome (GS) is an inherited salt-wasting tubulopathy characterized by hypocalciuria, hypokalemia, hypomagnesemia and metabolic alkalosis, due to inactivating mutations in the SLC12A3 gene. Symptoms may be systemic, neurological, cardiovascular,
E. Conticini, A. Negro, L. Magnani, R. Ugolini, B. Atienza-Mateo, B. Frediani, C. Salvarani   +6 more
doaj   +1 more source

Coincidental light chain induced proximal tubulopathy with lupus nephritis: a case report and review of the literature

Journal of Medical Case Reports, 2021
Background We report a case of light chain proximal tubulopathy associated with lupus nephritis in a patient known to have systemic lupus erythematosus. The kidney can be injured in several ways in any of these disorders. Light chain proximal tubulopathy
Wael Mostafa Hamza, Ahmed Mohammed AlEssa   +1 more
doaj   +1 more source

Differentiated mouse kidney tubuloids as a novel in vitro model to study collecting duct physiology

Frontiers in Cell and Developmental Biology, 2023
Kidney tubuloids are cell models that are derived from human or mouse renal epithelial cells and show high similarities with their in vivo counterparts. Tubuloids grow polarized in 3D, allow for long-term expansion, and represent multiple segments of the
C. J. A. Olde Hanhof, E. Dilmen, F. A. Yousef Yengej, F. A. Yousef Yengej, F. Latta, C. M. E. Ammerlaan, C. M. E. Ammerlaan, J. Schreurs, L. Hooijmaijers, J. Jansen, J. Jansen, J. Jansen, M. B. Rookmaaker, I. Orhon, M. C. Verhaar, J. G. Hoenderop   +15 more
doaj   +1 more source

mTOR-activating mutations in RRAGD cause kidney tubulopathy and cardiomyopathy (KICA) syndrome [preprint] [PDF]

, 2021
This article is a preprint. Preprints are preliminary reports of work that have not been certified by peer review. The PDF available for download is Version 2 of this preprint. The complete version history of this preprint is available at bioRxiv.
Schlingmann, Karl P., de Baaij, Jeroen H.F., Shen, Kuang   +2 more
core   +1 more source