Results 61 to 70 of about 2,061,243 (253)
CLC channel function and dysfunction in health and disease [PDF]
, 2014 CLC channels and transporters are expressed in most tissues and fulfill diverse functions. There are four human CLC channels, ClC-1, ClC-2, ClC-Ka and ClC-Kb, and five CLC transporters, ClC-3 through -7.
Christoph Fahlke +2 more
core +2 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 +32 more
core +3 more sources
Bartter-Like Syndrome as the Initial Presentation of Dent Disease 1: A Case Report
Frontiers in Pediatrics, 2021 Dent disease is a rare genetic disease characterized by low-molecular-weight proteinuria. Dent disease with Bartter-like syndrome is rare and can easily be misdiagnosed and mistreated. Herein, we report a case of Dent disease 1 with Bartter-like syndrome
Qiaoping Chen +4 more
doaj +1 more source
Clinical and diagnostic features of Bartter and Gitelman syndromes [PDF]
, 2017 Background: Bartter and Gitelman syndromes are autosomal recessive disorders of renal tubular salt handling. Due to their rarity, limited long-term data are available to inform prognosis and management.
Ashton, E +8 more
core +1 more source
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 +4 more
core +3 more sources
Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis [PDF]
, 2016 Nephrocalcinosis describes the ectopic deposition of calcium salts in the kidney parenchyma. Nephrocalcinosis can result from a number of acquired causes, but also an even greater number of genetic diseases, predominantly renal, but also extra-renal ...
Ben Oliveira +17 more
core +1 more source
Cryo-EM structure of the potassium-chloride cotransporter KCC4 in lipid nanodiscs. [PDF]
, 2020 Cation-chloride-cotransporters (CCCs) catalyze transport of Cl- with K+ and/or Na+across cellular membranes. CCCs play roles in cellular volume regulation, neural development and function, audition, regulation of blood pressure, and renal function.
Brohawn, Stephen Graf +2 more
core +2 more sources
Unusual Complication of Multidrug Resistant Tuberculosis
Case Reports in Nephrology, 2017 Introduction. Capreomycin is a second-line drug often used for multidrug-resistant tuberculosis which can result in nephrotoxic effects similar to other aminoglycosides.
Prerna Sharma, Ravindra Nath Sahay
doaj +1 more source
Bartter Syndrome Represented by Recurrent Hypokalemia Attacks: A Case Report
Southern Clinics of Istanbul Eurasia, 2017 Bartter syndrome is a tubular disorder and characterized with hypokalemia, hypokalemic metabolic alkalosis, hyperreninemia, normal blood pressure, increased loss of urinary sodium, potassium and chloride.
Nuran Küçük +4 more
doaj +1 more source
The American journal of case reports, 2020 Patient: Male, 31-year-old Final Diagnosis: Bartter syndrome Symptoms: Weakness Medication: — Clinical Procedure: — Specialty: Genetics • Nephrology Objective: Unusual clinical course Background: Bartter syndrome is a rare genetic disease characterized ...
Khaled A. Elfert +5 more
semanticscholar +1 more source