Results 41 to 50 of about 1,812 (217)

Inherited salt‐losing tubulopathy: An old condition but a new category of tubulopathy [PDF]

Pediatrics International, 2020
AbstractBartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characterized by hypokalemia and metabolic alkalosis. Clinically, BS is classified into two types: the severe antenatal/neonatal type, which develops during the fetal period with polyhydramnios and preterm delivery; and the relatively ...
Kandai Nozu, Tomohiko Yamamura, Tomoko Horinouchi, China Nagano, Nana Sakakibara, Kenji Ishikura, Riku Hamada, Naoya Morisada, Kazumoto Iijima   +8 more
openaire   +2 more sources

Potential and pitfalls in the genetic diagnosis of kidney diseases [PDF]

, 2017
Next-generation sequencing has dramatically decreased the cost of gene sequencing, facilitating the simultaneous analysis of multiple genes at the same time; obtaining a genetic result for an individual patient has become much easier.
Ashton, E, Bockenhauer, D, Kesselheim, A
core   +1 more source

Apolipoprotein E-associated Lipoprotein Glomerulo-tubulopathy

Internal Medicine, 2023
A 32-year-old man was admitted for the evaluation of proteinuria (5.69 g/day). A light microscopic examination showed markedly dilated glomerular capillary loops with vacuolated areas in many glomeruli, and vacuolated areas were seen on peritubular capillaries in the tubulointerstitium.
Tanimizu, Hikaru, Hara, Risa, Sekine, Akinari, Inoue, Noriko, Hasegawa, Eiko, Tanaka, Kiho, Kono, Kei, Kinowaki, Keiichi, Ohashi, Kenichi, Okubo, Minoru, Yamaguchi, Yutaka, Kang, Dedong, Honda, Kazuho, Saito, Takao, Sawa, Naoki, Ubara, Yoshifumi, Hoshino, Junichi   +16 more
openaire   +2 more sources

Magnesium lactate in the treatment of Gitelman syndrome: patient-reported outcomes. [PDF]

, 1997
BACKGROUND: Gitelman syndrome (GS) is a rare recessively inherited renal tubulopathy associated with renal potassium (K) and magnesium (Mg) loss. It requires lifelong K and Mg supplementation at high doses that are at best unpalatable and at worst ...
A. Ingsathit, A. Thakkinstian, Asderakis, Cerwenka, Chow, Cuhaci, D. O. McDaniel, Dmitrienko, Fox, Hutchings, Hutchinson, I  igo, J. Attia, K. M. Chow, Loucaidou, M. Gerbase-DeLima, M. McEvoy, Marshall, McDaniel, Melk, Morgun, Morris, Mytilineos, Oxman, P. Inigo, P. Trevillian, Pankewycz, S. Dmitrienko, Simmonds, Smith, Suthanthiran, Swain, Tagore, Thakkinstian, Thompson, Tian, Tinckam, Turner, W. H. Barber, Warl  , Weimer   +40 more
core   +33 more sources

Clinical Characteristics, Symptoms, and Long-Term Outcomes in Gitelman Syndrome. [PDF]

Kidney Int Rep
Genetics; Hypokalemia; HypomagnesemiaGenética; Hipopotasemia; HipomagnesemiaGenètica; Hipopotassèmia; HipomagnesèmiaIntroduction Gitelman syndrome (GS) is a rare inherited salt-losing tubulopathy with limited clinical data.
Wieërs MLAJ, Allard L, D'Ambrosio V, Arango-Sancho P, de Baaij JHF, Becherucci F, Bertholet-Thomas A, Besouw M, Blanchard A, Cacciapuoti M, Carbone V, Cornelissen EA, Daffara F, Degenhardt J, Devuyst O, Dorresteijn E, Evans R, Figueres L, Fila M, Giliberti M, Gillion V, Haumann S, Hawkins-van der Cingel G, Houillier P, Hureaux M, Knauf F, Knebelmann B, Konrad M, Kwon T, Lemoine S, Longo G, Nijenhuis T, Engberink RHGO, Duro HR, Saadé C, Sayer JA, Schlingmann KP, Simon T, Speeckaert MM, Tan HL, Trepiccione F, Vargas-Poussou R, Veligratti F, Walsh SB, Salih M, Imenez Silva PH, Hoorn EJ, Gitelman Survey Study.   +47 more
europepmc   +6 more sources

Síndrome de Bartter: evaluación del desarrollo estatural y perfil metabólico [PDF]

, 2011
OBJECTIVE: Bartter's syndrome is one of the most important inherited diseases that cause chloride leak. The objective of this study was to report the follow-up of ten patients with the syndrome.
Andrade, Maria Cristina de, Carvalhaes, João Tomás de Abreu, Maia, Marta Liliane A., Nogueira, Paulo Cesar Koch, Val, Maria Luiza D. M.   +4 more
core   +3 more sources

Canalopatias em endocrinologia: achados genéticos recentes e fisiopatologia [PDF]

, 2010
Ion channels serve diverse cellular functions, mainly in cell signal transduction. In endocrine cells, these channels play a major role in hormonal secretion, Ca2+-mediated cell signaling, transepithelial transport, cell motility and growth, volume ...
Chiamolera, Maria Izabel, Dias-da-Silva, Magnus Régios, Fujikawa, Aline M., Kunii, Ilda S., Lindsey, Susan C., Maciel, Rui Monteiro de Barros, Rolim, Ana Luiza R., Soares, Fernando de Almeida   +7 more
core   +2 more sources

Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders [PDF]

, 2021
Bartter syndrome is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemic and hypochloremic metabolic alkalosis and low to normal blood pressure.
Ariceta, G, Bertholet-Thomas, A, Bockenhauer, D, Calo, LA, Capasso, G, Emma, F, Konrad, M, Nijenhuis, T, Schlingmann, KP, Singh, M, Trepiccione, F, Vargas-Poussou, R, Walsh, SB, Whitton, K   +13 more
core   +1 more source

Inherited Tubulopathies of the Kidney [PDF]

Clinical Journal of the American Society of Nephrology, 2020
The kidney tubules provide homeostasis by maintaining the external milieu that is critical for proper cellular function. Without homeostasis, there would be no heartbeat, no muscle movement, no thought, sensation, or emotion. The task is achieved by an orchestra of proteins, directly or indirectly involved in the tubular transport of water and solutes.
Mallory L. Downie, Sergio C. Lopez Garcia, Robert Kleta, Detlef Bockenhauer   +3 more
openaire   +3 more sources

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East. [PDF]

, 2019
Background: Nephropathic Cystinosis, the most common cause of renal Fanconi syndrome, is a lysosomal transport disorder with an autosomal recessive inheritance pattern. A large number of mutations in CTNS have been identified as causative to date.
Aldahmesh, Anikster, Bastug, Bertholet-Thomas, Cherqui, Chkioua, Cogan, Doneray, Elmonem, Emma, Forestier, Gahl, Gahl, Ghazi, Goldman, Higashi, Jaradat, Kalatzis, Kleta, Levy, McDowell, Sadeghipour, Servais, Shahkarami, Soliman, Thoene, Topaloglu, Topaloglu, Wamelink, Wilmer, Yang, Yeetong, Önenli-Mungan   +32 more
core   +3 more sources