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Bartter syndrome

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https://www.readbyqxmd.com/read/28630040/endoplasmic-reticulum-associated-degradation-of-the-renal-potassium-channel-romk-leads-to-type-ii-bartter-syndrome
#1
Brighid M O'Donnell, Timothy D Mackie, Arohan R Subramanya, Jeffrey L Brodsky
Type II Bartter syndrome is caused by mutations in the Renal Outer Medullary Potassium (ROMK) channel but the molecular mechanisms underlying this disease are poorly defined. To rapidly screen for ROMK function, we developed a yeast expression system and discovered that yeast cells lacking endogenous potassium channels could be rescued by WT ROMK but not by ROMK proteins containing one of four Bartter mutations. We also found that the mutant proteins were significantly less stable than WT ROMK. However, their degradation was slowed in the presence of a proteasome inhibitor or when yeast cells contained mutations in the CDC48 or SSA1 gene, which is required for endoplasmic reticulum (ER)-associated degradation (ERAD)...
June 19, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28612006/cisplatin-therapy-does-not-worsen-renal-function-in-severe-antenatal-bartter-syndrome
#2
Thomas R Welch, David R Shaffer, Darren R Feldman
A 30-year-old man with severe antenatal Bartter syndrome, diagnosed and treated in infancy, developed testicular carcinoma. Despite the known renal complications of cisplatin, this drug was used for his chemotherapy because of its superior antineoplastic effect. Nonsteroidal anti-inflammatory drug administration was continued during cisplatin therapy. Despite an increase in his oral potassium requirement, renal function was maintained following completion of chemotherapy. In spite of its significant associated nephrotoxicity, cisplatin can be used in patients with severe antenatal Bartter syndrome if required for therapy of malignancy...
May 2017: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/28598867/pathophysiology-of-antenatal-bartter-s-syndrome
#3
Martin Kömhoff, Kamel Laghmani
PURPOSE OF REVIEW: Antenatal Bartter syndrome (aBS) is a heterogenous disease resulting from defective ion transport in the thick ascending limb of the loop of Henle. Novel insights into the pathophysiology, as well as the recent identification of a novel genetic cause of aBS, merit an update on this topic. RECENT FINDINGS: In aBS, severe salt losing is further aggravated by defective salt sensing in the macula densa, where a reduced tubular salt concentration is perceived and glomerular filtration is increased instead of decreased...
June 8, 2017: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/28598505/paving-the-way-for-bartter-syndrome-type-3-drug-discovery-a-hope-from-basic-research
#4
Paola Imbrici, Diana Conte, Antonella Liantonio
Understanding the genetic background and the molecular mechanisms of inherited kidney channelopathies is essential to definition of targeted therapeutic approaches for affected patients. This article is protected by copyright. All rights reserved.
June 9, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28555925/functional-severity-of-clcnkb-mutations-correlates-with-phenotypes-in-patients-with-classic-bartter-s-syndrome
#5
Chih-Jen Cheng, Yi-Fen Lo, Jen-Chi Chen, Chou-Long Huang, Shih-Hua Lin
Mutations in CLCNKB gene encoding human voltage-gated chloride ClC-Kb (hClC-Kb) channel cause classic Bartter's syndrome (BS). In contrast to antenatal BS, classic BS manifests highly variable phenotypes. The functional severity of mutant channel has been proposed to explain this phenomenon. Due to difficulties in the expression of hClC-Kb in heterologous expression systems, the functional consequences of mutant channels haven't been thoroughly examined, and the genotype-phenotype association hasn't been established...
May 27, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28555110/reduced-membrane-insertion-of-clc-k-by-v33l-barttin-results-in-loss-of-hearing-but-leaves-kidney-function-intact
#6
Hua Tan, Stefanie Bungert-Plümke, Christoph Fahlke, Gabriel Stölting
In the mammalian ear, transduction of sound stimuli is initiated by K(+) entry through mechano-sensitive channels into inner hair cells. K(+) entry is driven by a positive endocochlear potential that is maintained by the marginal cell layer of the stria vascularis. This process requires basolateral K(+) import by NKCC1 Na(+)-2Cl(-)-K(+) co-transporters as well as Cl(-) efflux through ClC-Ka/barttin or ClC-Kb/barttin channels. Multiple mutations in the gene encoding the obligatory CLC-K subunit barttin, BSND, have been identified in patients with Bartter syndrome type IV...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28553424/bilateral-idiopathic-sclerochoroidal-calcifications
#7
Venkatesh L Brahma, Sumit P Shah, Nauman A Chaudhry, Jonathan L Prenner
BACKGROUND: Sclerochoroidal calcification (SCC) is a rare and benign condition found mostly in middle-aged and elderly Caucasian men, characterized by multiple yellow-white lesions seen most commonly in the temporal regions of the fundus. While they may be concerning for benign tumors, primary neoplasias or metastases, SCCs most commonly present as asymptomatic findings during routine ophthalmologic testing and have a very good prognosis as they rarely cause visual deficits. OBJECTIVE: To report and describe the findings in a case of bilateral idiopathic sclerochoroidal calcifications...
2017: Open Ophthalmology Journal
https://www.readbyqxmd.com/read/28553046/amelogenesis-imperfecta-with-distal-renal-tubular-acidosis-a-novel-syndrome
#8
R A Misgar, Z Hassan, A I Wani, M I Bashir
Amelogenesis imperfecta (AI) is a heterogeneous group of inherited dental enamel defects. It has rarely been reported in association with multiorgan syndromes and metabolic disorders. The metabolic disorders that have been reported in association with AI include hypocalciuria, impaired urinary concentrating ability, and Bartter-like syndrome. In literature, only three cases of AI and distal renal tubular acidosis (dRTA) have been described: two cases in adults and a solitary case in the pediatric age group...
May 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/28515908/renal-manifestations-of-primary-mitochondrial-disorders
#9
Josef Finsterer, Fulvio Alexandre Scorza
The aim of the present review was to summarize and discuss previous findings concerning renal manifestations of primary mitochondrial disorders (MIDs). A literature review was performed using frequently used databases. The study identified that primary MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or in the later course of the MID. Occasionally, the kidneys are affected in MIDs. Renal manifestations of MIDs include renal insufficiency, nephrolithiasis, nephrotic syndrome, renal cysts, renal tubular acidosis, Bartter-like syndrome, Fanconi syndrome, focal segmental glomerulosclerosis, tubulointerstitial nephritis, nephrocalcinosis, and benign or malign neoplasms...
May 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28498361/rectal-cancer-in-a-patient-with-bartter-syndrome-a-case-report
#10
Shiki Fujino, Norikatsu Miyoshi, Masayuki Ohue, Mikio Mukai, Yoji Kukita, Taishi Hata, Chu Matsuda, Tsunekazu Mizushima, Yuichiro Doki, Masaki Mori
A woman with rectal cancer was scheduled for surgery. However, she also had hypokalemia, hyperreninemia, and hyperaldosteronism in the absence of any known predisposing factors or endocrine tumors. She was given intravenous potassium, and her blood abnormalities stabilized after tumor resection. Genetic analysis revealed mutations in several genes associated with Bartter syndrome (BS) and Gitelman syndrome, including SLC12A1, CLCNKB, CASR, SLC26A3, and SLC12A3. Prostaglandin E2 (PGE2) plays an important role in BS and worsens electrolyte abnormalities...
May 12, 2017: Genes
https://www.readbyqxmd.com/read/28386229/clc-channels-and-transporters-structure-physiological-functions-and-implications-in-human-chloride-channelopathies
#11
REVIEW
Diogo R Poroca, Ryan M Pelis, Valérie M Chappe
The discovery of ClC proteins at the beginning of the 1990s was important for the development of the Cl(-) transport research field. ClCs form a large family of proteins that mediate voltage-dependent transport of Cl(-) ions across cell membranes. They are expressed in both plasma and intracellular membranes of cells from almost all living organisms. ClC proteins form transmembrane dimers, in which each monomer displays independent ion conductance. Eukaryotic members also possess a large cytoplasmic domain containing two CBS domains, which are involved in transport modulation...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28381550/clinical-and-genetic-spectrum-of-bartter-syndrome-type-3
#12
Elsa Seys, Olga Andrini, Mathilde Keck, Lamisse Mansour-Hendili, Pierre-Yves Courand, Christophe Simian, Georges Deschenes, Theresa Kwon, Aurélia Bertholet-Thomas, Guillaume Bobrie, Jean Sébastien Borde, Guylhène Bourdat-Michel, Stéphane Decramer, Mathilde Cailliez, Pauline Krug, Paul Cozette, Jean Daniel Delbet, Laurence Dubourg, Dominique Chaveau, Marc Fila, Noémie Jourde-Chiche, Bertrand Knebelmann, Marie-Pierre Lavocat, Sandrine Lemoine, Djamal Djeddi, Brigitte Llanas, Ferielle Louillet, Elodie Merieau, Maria Mileva, Luisa Mota-Vieira, Christiane Mousson, François Nobili, Robert Novo, Gwenaëlle Roussey-Kesler, Isabelle Vrillon, Stephen B Walsh, Jacques Teulon, Anne Blanchard, Rosa Vargas-Poussou
Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene (CLCNKB), which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. To study phenotype/genotype correlations, we performed genetic analyses by direct sequencing and multiplex ligation-dependent probe amplification and retrospectively analyzed medical charts for 115 patients with CLCNKB mutations. Functional analyses were performed in Xenopus laevis oocytes for eight missense and two nonsense mutations...
April 5, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28377333/prenatal-diagnosis-of-bartter-syndrome-amniotic-fluid-aldosterone
#13
Myriam Rachid, Sophie Dreux, Gauthier Pean de Ponfilly, Rosa Vargas-Poussou, Isabelle Czerkiewicz, Didier Chevenne, Jean-François Oury, Georges Deschênes, Françoise Muller
Bartter syndrome is a severe inherited tubulopathy characterized at birth by salt wasting, severe polyuria, dehydration, growth retardation and secondary hyperaldosteronism. Prenatally, the disease is usually discovered following onset of severe polyhydramnios. We studied amniotic fluid aldosterone concentration in cases of Bartter syndrome and in control groups. Amniotic fluid aldosterone was assayed by radioimmunoassay. We undertook a retrospective case-control study based on 36 cases of postnatally diagnosed Bartter syndrome and 144 controls matched for gestational age...
April 1, 2017: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/28336828/-disorders-caused-by-mutations-in-calcium-sensing-receptor-and-related-diseases
#14
Toshimi Michigami
Sensing of extracellular calcium(Ca2+)levels involves the Ca-sensing receptor(CaSR), its downstream signaling molecule Gα11, and the adaptor-related protein complex 2(AP2)that plays a role in clathrin-dependent endocytosis of CaSR. Inactivating mutations in CaSR cause familial hypocalciuric hypercalcemia type 1(FHH1)and neonatal severe hyperparathyroidism(NSHPT), while activating mutations lead to autosomal dominant hypocalcemia type 1(ADH1)and Bartter syndrome type Ⅴ. Recent studies have identified that inactivating mutations in Gα11 and σ-subunit of AP2(AP2σ)also cause FHH, and these conditions have been classified as FHH2 and FHH3, respectively...
2017: Clinical Calcium
https://www.readbyqxmd.com/read/28334417/pharmacovigilance-database-search-discloses-clc-k-channels-as-a-novel-target-of-the-at1-receptor-blockers-valsartan-and-olmesartan
#15
Paola Imbrici, Domenico Tricarico, Giuseppe Felice Mangiatordi, Orazio Nicolotti, Marcello Diego Lograno, Diana Conte, Antonella Liantonio
BACKGROUND AND PURPOSE: Human ClC-K chloride channels are highly attractive targets for drug discovery as they have a variety of important physiological functions and are associated with genetic disorders. These channels are crucial in the kidney as they control chloride reabsorption and water diuresis. In addition, loss-of-function mutations of CLCNKB and BSND genes cause Bartter's syndrome (BS), whereas CLCNKA and CLCNKB gain-of-function polymorphisms predispose to a rare form of salt sensitive hypertension...
July 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28327689/unusual-case-of-failure-to-thrive-type-iii-bartter-syndrome
#16
S Agrawal, K Subedi, P Ray, A Rayamajhi
Bartter syndrome Type III is a rare autosomal recessive disorder resulting from an inherited defect in the thick ascending limb of the loop of henle of the nephrons in kidney. The typical clinical manifestations in childhood are failure to thrive and recurrent episodes of vomiting. Typical laboratory findings which help in the diagnosis are hypokalemic metabolic alkalosis, hypomagnesemia and hypercalciuria. We report a case of Type III Bartter syndrome not responding to repeated conventional treatment of failure to thrive...
September 2016: Journal of Nepal Health Research Council
https://www.readbyqxmd.com/read/28325561/a-new-slc12a3-founder-mutation-p-val647met-in-gitelman-s-syndrome-patients-of-roma-ancestry
#17
Helena Gil-Peña, Eliecer Coto, Fernando Santos, Mar Espino, Jose Mª Cea Crespo, Giannis Chantzopoulos, Filadelfia Komianou, Juan Gómez, Belén Alonso, Sara Iglesias, Cyrielle Treard, Rosa Vargas-Poussou
BACKGROUND: Gitelman's syndrome (GS) is an autosomal recessive disorder caused by mutations in the SLC12A3 gene. GS is characterized by hypokalaemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Most of the reported patients of Roma ancestry are homozygous for an SLC12A3 intron 9 frameshifting mutation (c.1180+1G>T). Some forms of Bartter's syndrome result from mutations in the CLNCKB gene and clinically overlap with GS. OBJECTIVES: To characterize a second SLC12A3 mutation in Roma patients negative for the intron 9 variant...
March 18, 2017: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/28288174/poor-phenotype-genotype-association-in-a-large-series-of-patients-with-type-iii-bartter-syndrome
#18
Alejandro García Castaño, Gustavo Pérez de Nanclares, Leire Madariaga, Mireia Aguirre, Álvaro Madrid, Sara Chocrón, Inmaculada Nadal, Mercedes Navarro, Elena Lucas, Julia Fijo, Mar Espino, Zilac Espitaletta, Víctor García Nieto, David Barajas de Frutos, Reyner Loza, Guillem Pintos, Luis Castaño, Gema Ariceta
INTRODUCTION: Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization in a cohort of 30 patients, one of the largest series described. By comparing with other published populations, and considering that 80% of our patients presented the p.Ala204Thr Spanish founder mutation presumably associated with a common phenotype, we aimed to test the hypothesis that allelic differences could explain the wide phenotypic variability observed in patients with type III BS...
2017: PloS One
https://www.readbyqxmd.com/read/28285303/bartter-syndrome-with-nephrogenic-diabetes-insipidus-and-vitamin-d-resistant-rickets
#19
Sriram Krishnamurthy, Anbazhagan Jagadeesh
No abstract text is available yet for this article.
February 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28213045/identification-of-the-causes-for-chronic-hypokalemia-importance-of-urinary-sodium-and-chloride-excretion
#20
Kun-Lin Wu, Chih-Jen Cheng, Chih-Chen Sung, Ming-Hua Tseng, Yu-Juei Hsu, Sung-Sen Yang, Tom Chau, Shih-Hua Lin
BACKGROUND: Uncovering the correct diagnosis of chronic hypokalemia with potassium (K(+)) wasting from the kidneys or gut can be fraught with challenges. We identified clinical and laboratory parameters helpful for differentiating the causes of chronic hypokalemia. METHODS: Normotensive patients referred to our tertiary academic medical center for the evaluation of chronic hypokalemia were prospectively enrolled over 5 years. Clinical features, laboratory examinations-including blood and spot urine electrolytes, acid-base status, biochemistries, and hormones-as well as genetic analysis, were determined...
February 14, 2017: American Journal of Medicine
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