Late-Onset Bartter's Syndrome Type II with End-Stage Renal Disease Due to a Novel Mutation in KCNJ1 Gene in an Indian Adult Male - A Case Report. [PDF]
Gaggar P, Raju DSB, Tej MR, Pragna P.
europepmc +1 more source
Bartter’s syndrome type II due to a novel mutation in KCNJ1 gene presenting in adulthood as recurrent hypokalaemic periodic paralysis [PDF]
Bartter’s syndrome affects salt reabsorption transporters in Henle's loop's thick ascending limb (TAL). Bartter’s syndrome type II begins in antenatal/neonatal period with an autosomal recessive pattern of inheritance due to mutation in the KCNJ1 gene ...
Ahlawat, Parul +5 more
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Efficient, non‐toxic anion transport by synthetic carriers in cells and epithelia [PDF]
Transmembrane anion transporters (anionophores) have potential for new modes of biological activity, including therapeutic applications. In particular they might replace the activity of defective anion channels in conditions such as cystic fibrosis ...
A Vargas Jentzsch +54 more
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Non-phenacetin analgesics and analgesic nephropathy: Clinical assessment of high users from a case-control study [1]* [PDF]
Background. A recent large-scale case-control study on analgesic nephropathy (SAN) [1] found no increased risk of end-stage renal disease (ESRD) in users of combined or single formulations of phenacetin-free analgesics.
Graf, Helmut +5 more
core
Potassium channels in epithelial transport [PDF]
Epithelial cells in the kidney, gastrointestinal tract and exocrine glands are engaged in vectorial transport of salt and nutrients. In these tissues, K+ channels play an important role for the stabilization of membrane voltage and maintenance of the ...
Warth, Richard
core
Hypercalciuria and nephrocalcinosis in cystic fibrosis patients
The objective of this study was to determine the frequency of nephrocalcinosis and hypercalciuria in cystic fibrosis (CF) patients, and to search possible causes of this phenomenon. Forty-three CF children (24 boys, 19 girls; mean age 64.9 months,
Uğur Ozçelik +6 more
doaj
IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22–23 [PDF]
19openopenAli G. Gharavi; Yan Yan; Francesco Scolari; F. Paolo Schena; Giovanni M. Frasca; Gian Marco Ghiggeri; Kerry Cooper; Antonio Amoroso; Battista Fabio Viola; Graziana Battini10; Gianluca Caridi8; Cristina Canova; Anita Farhi; Vairavan ...
core
Living with Gitelman disease: an insight into patients' daily experiences [PDF]
Background Gitelman disease presents with musculoskeletal complaints and fatigue. Surprisingly, there is no clear-cut correlation between biochemical abnormalities and symptoms.
Bettinelli, Alberto +5 more
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The paper describes a case of severe preranal acute renal failure that was induced by the uncontrolled long-term use of furosemide and that was reversible after infusion therapy. Another case is a female patient with anorexia nervosa and end-stage uremia
A Iu Nikolaev +2 more
doaj
Metabolic syndrome and the risk of calcium stones [PDF]
Sakhaee et al in this issue have investigated whether the risk of the common calcium nephrolithiasis is associated with the metabolic syndrome (MS).
Adams-Huet, Beverley +6 more
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