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https://www.readbyqxmd.com/read/28336828/-disorders-caused-by-mutations-in-calcium-sensing-receptor-and-related-diseases
#1
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
#2
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 for their physiological role and association with genetic disorders. These channels are pivotal in the kidney as they control chloride reabsorption and water diuresis. In addition, loss-of-function mutations of CLCKNB and BSND genes cause Bartter's syndrome (BS), whereas CLCNKA and CLCKNB gain-of-function polymorphisms predispose to a rare form of salt sensitive hypertension. Both disorders lack a personalized therapy that is in most cases only symptomatic...
March 23, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28327689/unusual-case-of-failure-to-thrive-type-iii-bartter-syndrome
#3
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
#4
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
#5
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
#6
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
#7
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 five 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
https://www.readbyqxmd.com/read/28208940/neurological-disorders-complicating-pregnancy-focus-on-obstetric-outcome
#8
Sandya Renukesh, Lavanya Rai
INTRODUCTION: Neurological disorders in pregnancy can be pregnancy related or can be caused by exacerbation of a pre-existing neurological condition or sometimes may even be detected for the first time during pregnancy in which it might be an incidental finding. The diagnosis and management of the neurological disorders in pregnancy is always a challenging task due to varied symptomatology and risks to the fetus. The evaluation and management should be performed in a stepwise fashion and requires multidisciplinary approach...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28134709/nephrogenic-diabetes-insipidus
#9
D Bockenhauer, Daniel G Bichet
PURPOSE OF REVIEW: In nephrogenic diabetes insipidus (NDI), the kidney is unable to concentrate urine despite elevated concentrations of the antidiuretic hormone arginine-vasopressin. In congenital NDI, polyuria and polydipsia are present from birth and should be immediately recognized to avoid severe episodes of dehydration. Unfortunately, NDI is still often recognized late after a 'diagnostic odyssey' involving false leads and dangerous treatments.Once diagnosed, appropriate treatment can be started...
April 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28122587/diseases-associated-with-calcium-sensing-receptor
#10
REVIEW
C Vahe, K Benomar, S Espiard, L Coppin, A Jannin, M F Odou, M C Vantyghem
The calcium-sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone secretion and urinary calcium excretion. The diseases caused by an abnormality of the CaSR are genetically determined or are more rarely acquired. The genetic diseases consist of hyper- or hypocalcemia disorders. Hypercalcaemia disorders are related to inactivating mutations of the CASR gene either heterozygous (autosomal dominant familial benign hypercalcaemia, still named hypocalciuric hypercalcaemia syndrome type 1) or homozygous (severe neonatal hyperparathyroidism)...
January 25, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28095294/a-novel-slc12a1-gene-mutation-associated-with-hyperparathyroidism-hypercalcemia-nephrogenic-diabetes-insipidus-and-nephrocalcinosis-in-four-patients
#11
Sariya Wongsaengsak, Alaina P Vidmar, Ananta Addala, Elaine S Kamil, Paola Sequeira, Benjamin Fass, Pisit Pitukcheewanont
Solute Carrier Family 12 member 1 (SLC12A1) gene encodes the sodium-potassium-chloride co-transporter (NKCC2) at the apical membrane of the thick ascending loop of Henle (TAL). Bartter's syndrome (BS) type I is a rare, autosomal recessive, renal tubular disorder associated with mutation of the SLC12A1 gene. Presenting features include: hypokalemic metabolic alkalosis, hypercalciuria and nephrocalcinosis. The many allelic variants reported present with a spectrum of phenotypes, biochemical abnormalities and clinical severities...
January 14, 2017: Bone
https://www.readbyqxmd.com/read/28018459/a-novel-mutation-of-clcnkb-in-a-korean-patient-of-mixed-phenotype-of-bartter-gitelman-syndrome
#12
Hee-Won Cho, Sang Taek Lee, Heeyeon Cho, Hae Il Cheong
Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of patients with CLCNKB mutations has been known to be highly variable, and cases that are difficult to categorize as type III BS or other hereditary tubulopathies, such as Gitelman syndrome, have been rarely reported...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28012523/digenic-mutations-involving-both-the-bsnd-and-gjb2-genes-detected-in-bartter-syndrome-type-iv
#13
Hong-Han Wang, Yong Feng, Hai-Bo Li, Hong Wu, Ling-Yun Mei, Xing-Wei Wang, Lu Jiang, Chu-Feng He
Bartter syndrome type IV, characterized by salt-losing nephropathies and sensorineural deafness, is caused by mutations of BSND or simultaneous mutations of both CLCNKA and CLCNKB. GJB2 is the primary causative gene for non-syndromic sensorineural deafness and associated with several syndromic sensorineural deafness. Owing to the rarity of Bartter syndrome, only a few mutations have been reported in the abovementioned causative genes. To investigate the underlying mutations in a Chinese patient with Bartter syndrome type IV, genetic analysis of BSND, CLCNKA, CLCNKB and GJB2 were performed by polymerase chain reaction and direct sequencing...
January 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28008741/acute-kidney-injury-in-type-3-bartter-syndrome-angiotensin-converting-enzyme-inhibitors-as-a-cause
#14
Ryuhei Nagao, Shinzi Suzuki, Hisashi Kawashima, Kandai Nozu, Kazumoto Iijima
No abstract text is available yet for this article.
December 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28000888/genetic-heterogeneity-in-patients-with-bartter-syndrome-type-1
#15
Mingran Sun, Jing Ning, Weihong Xu, Han Zhang, Kaishu Zhao, Wenfu Li, Guiying Li, Shibo Li
Bartter syndrome (BS) type 1 is an autosomal recessive kidney disorder caused by loss‑of‑function mutations in the solute carrier family 12 member 1 (SLC12A1) gene. To date, 72 BS type 1 patients harboring SLC12A1 mutations have been documented. Of these 144 alleles studied, 68 different disease‑causing mutations have been detected in 129 alleles, and no mutation was detected in the remaining 15 alleles. The mutation types included missense/nonsense mutations, splicing mutations and small insertions and deletions ranging from 1 to 4 nucleotides...
February 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27977622/chronic-obstructive-pulmonary-disease-the-impact-of-gender
#16
Deepa Raghavan, Anita Varkey, Thaddeus Bartter
PURPOSE OF REVIEW: Chronic obstructive pulmonary disease (COPD) is a widely prevalent and potentially preventable cause of death worldwide. The purpose of this review is to summarize the influence of gender on various attributes of this disease, which will help physicians provide more personalized care to COPD patients. RECENT FINDINGS: Cultural trends in smoking have morphed the epidemiology of this traditionally male disease. There is an increasing 'disease burden' among women with COPD as suggested by the higher prevalence and slower decline in death rates as compared with men...
March 2017: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/27974969/a-novel-technique-of-needle-setting-for-curvilinear-endobronchial-ultrasound-improved-efficiency-with-no-cost
#17
Nikhil Meena, Ayoub Innabi, Bashar Alzghoul, Thaddeus Bartter
BACKGROUND: Standard instructions for biopsy using the convex curvilinear endobronchial ultrasound scope include visualization and adjustment of the sheath housing the biopsy needle before every puncture. In our practice, we pre-set this relationship before inserting the endobronchial ultrasound scope and leave it fixed for every puncture. OBJECTIVE: We postulated that this approach is more efficient than repeated re-adjustment and aimed to show that it would not increase the frequency of endobronchial ultrasound scope damage...
2016: SAGE Open Medicine
https://www.readbyqxmd.com/read/27942182/acquired-bartter-syndrome-following-gentamicin-therapy
#18
J Singh, M L Patel, K K Gupta, S Pandey, A Dinkar
Aminoglycoside nephrotoxicity may manifest as nonoliguric renal failure or tubular dysfunction, such as Fanconi-like syndrome, Bartter-like syndrome (BS), or distal renal tubular acidosis. We report a case who developed severe renal tubular dysfunction on the the 7(th) day of gentamicin therapy, resulting in metabolic alkalosis, refractory hypokalemia, hypocalcemia, hypomagnesemia, and polyuria. The patient was diagnosed as a case of transient BS associated with gentamicin exposure. The patient recovered with conservative management...
November 2016: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/27906863/bartter-s-and-gitelman-s-syndrome
#19
Hannsjörg W Seyberth, Stefanie Weber, Martin Kömhoff
PURPOSE OF REVIEW: The clinical presentations of Bartter's syndrome and Gitelman's syndrome will be reviewed including two most recently described hypokalemic salt-losing tubulopathies. By taking the quite heterogeneous presentations and the apparently different pathophysiologies as the basis, the applicability of the physiologic classification has been tested. RECENT FINDINGS: According to the physiologic approach, salt-losing tubulopathies can be divided into two major groups (with completely different tubular defects): first, disorders of the thick ascending limb of Henle's loop (loop disorders); second, disorders of the distal convolute tubule (DCT disorders)...
November 30, 2016: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/27882009/functional-and-structural-abnormalities-of-the-kidney-and-urinary-tract-in-severely-malnourished-children-a-hospital-based-study
#20
Misbah Anjum, Khemchand N Moorani, Ifra Sameen, Muhammad Ayaz Mustufa, Shazia Kulsoom
OBJECTIVES: The association of malnutrition and systemic diseases like chronic kidney disease (CKD) is well known. Various urinary tract abnormalities may be associated with malnutrition. So objective of current study was to determine the frequency of functional and structural urinary tract abnormalities in severely malnourished children admitted in Nutritional Rehabilitation Unit (NRU) of a tertiary care facility, Karachi. METHODS: This descriptive cases series of 78 children was conducted in NRU from October 2014 - March 2015...
September 2016: Pakistan Journal of Medical Sciences Quarterly
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