Results 121 to 130 of about 2,061,243 (253)

Late-Onset Bartter Syndrome Type II Due to a Novel Compound Heterozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review

, 2022
Mi Tian, Hui Peng, Xin Bi, Yanqiu Wang, Yongzhe Zhang, Yan Wu, Bei-Ru Zhang   +6 more
openalex   +1 more source

A novel compound heterozygous KCNJ1 gene mutation presenting as late-onset Bartter syndrome

Medicine, 2019
Rationale: Bartter syndrome is an autosomal-recessive inherited disease in which patients present with hypokalemia and metabolic alkalosis. We present 1 case with Bartter syndrome, due to a novel compound heterozygous mutation in the KCNJ1 gene encoding ...
Jingyi Li, Shoulong Hu, Y. Nie, Rongfeng Wang, Ming Tan, Hongmei Li, Shuanli Zhu   +6 more
semanticscholar   +1 more source

Persistent renal dysfunction post-chemotherapy: a diagnostic conundrum in pediatric cancer survivorship – a case report

BMC Pediatrics
Background Late-onset type II Bartter syndrome is an exceedingly rare condition, with only six documented cases presenting symptoms and signs beyond infancy. We report a unique case of late-onset type II Bartter syndrome with an atypical presentation and
Jhao-Jhuang Ding, Shih-Hua Lin, Tai-Wei Wu, Min-Hua Tseng   +3 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line from a Bartter syndrome patient with the homozygote mutation p.A244D (c.731C>A) in SLC12A1 gene

, 2021
Weiping Ji, Dexuan Wang, Congde Chen, Huihui Chen, Yinjuan Ding, Chao Li, Xing Rong, Xiaoou Shan, Maoping Chu, Xian Shen, Xiaoling Guo   +10 more
openalex   +1 more source

Impairment in renal medulla development underlies salt wasting in Clc-k2 channel deficiency

JCI Insight, 2021
The prevailing view is that the ClC-Ka chloride channel (mouse Clc-k1) functions in the thin ascending limb to control urine concentration, whereas the ClC-Kb channel (mouse Clc-k2) functions in the thick ascending limb (TAL) to control salt reabsorption.
Meng-Hsuan Lin, Jen-Chi Chen, Xuejiao Tian, Chia-Ming Lee, I-Shing Yu, Yi-Fen Lo, Shinichi Uchida, Chou-Long Huang, Bi-Chang Chen, Chih-Jen Cheng   +9 more
doaj   +1 more source

Caractérisation des canaux potassiques du tubule contourné proximal et des propriétés régulatrices des canaux chlorure de la membrane basolatérale des cellules intercalaires du tubule connecteur [PDF]

, 2015
A 10 pS chloride channel at the basolateral side of connecting duct intercalated cells shares properties with the cloned ClC-K2 channel. Patch-clamp experiments show that its activity and the number of active channels increase with (i) membrane ...
Pinelli, Laurent
core   +2 more sources

Antenatal Bartter syndrome [PDF]

, 2020
INSERM
openalex   +1 more source

Chemotherapy-induced tubulopathy: a case report series

Frontiers in Nephrology
Acquired tubulopathies are frequently underdiagnosed. They can be characterized by the renal loss of specific electrolytes or organic solutes, suggesting the location of dysfunction.
Mario Alamilla-Sanchez, Juan Daniel Diaz Garcia, Valeria Yanez Salguero, Fleuvier Morales Lopez, Victor Ulloa Galvan, Francisco Velasco Garcia-Lascurain, Benjamin Yama Estrella   +6 more
doaj   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus

Case Reports in Pediatrics, 2018
Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt‐losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation.
G. Vergine, E. Fabbri, A. Pedini, S. Tedeschi, Niccolò Borsa   +4 more
semanticscholar   +1 more source