keyword
MENU ▼
Read by QxMD icon Read
search

Bartter syndrome

keyword
https://www.readbyqxmd.com/read/28095294/a-novel-slc12a1-gene-mutation-associated-with-hyperparathyroidism-hypercalcemia-nephrogenic-diabetes-insipidus-and-nephrocalcinosis-in-four-patients
#1
Sariya Wongsaengsak, Alaina P Vidmar, Ananta Addala, Elaine S Kamil, Paola Seqeira, 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
#2
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
#3
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
#4
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
#5
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/27942182/acquired-bartter-syndrome-following-gentamicin-therapy
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/27798456/future-considerations-based-on-the-information-from-barrter-s-and-gitelman-s-syndromes
#9
Hadas Alfandary, Daniel Landau
PURPOSE OF REVIEW: Bartter and Gitelman syndromes are typical normotensive salt losing hypokalaemic tubulopathies. Their pathogenesis was gradually deciphered in the past 5 decades, first by typical salt balance studies and histopathology, followed by genetic characterization and discovery of the affected different ion channels. Although the different genotypic subtypes were originally thought to show a similar phenotype, important clinical and biochemical differences can now be found...
January 2017: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/27784486/-novel-slc26a3-mutation-in-an-infant-with-congenital-chloride-losing-diarrhea-initially-misdiagnosed-as-bartter-s-syndrome
#10
Y P Liu, Y X Chen, L R Qiu
No abstract text is available yet for this article.
October 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27748541/a-novel-variant-in-the-slc12a1-gene-in-two-families-with-antenatal-bartter-syndrome
#11
Anders Breinbjerg, Charlotte Siggaard Rittig, Niels Gregersen, Søren Rittig, Jane Hvarregaard Christensen
AIM: Bartter syndrome is an autosomal-recessive inherited disease in which patients present with hypokalaemia and metabolic alkalosis. We present two apparently nonrelated cases with antenatal Bartter syndrome type I, due to a novel variant in the SLC12A1 gene encoding the bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2 in the thick ascending limb of the loop of Henle. METHODS: Blood samples were received from the two cases and 19 of their relatives, and deoxyribonucleic acid was extracted...
January 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/27728485/cardiac-arrest-in-pregnancy-refractory-hypokalemia-is-it-gitelman-or-type-3-bartters-syndrome
#12
Sabarinath, Sanket Shah, Lavanya, Rama Bhat
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27728466/severe-hypokalemia-with-grave-complication-diagnosed-as-bartter-syndrome
#13
Shyamal Das, A Chakraborty
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27682612/neonatal-bartter-syndrome-with-cholelithiasis-and-hydrocephalus-rare-association
#14
Özmert Ma Özdemir, Ceren Çıralı, Sebahat Yılmaz Ağladıoğlu, Havva Evrengül, Emre Tepeli, Hacer Ergin
Neonatal Bartter syndrome (NBS) is a rare autosomal recessive renal tubular disorder. This disease is characterized by hypokalemia, hypochloremia, and metabolic alkalosis that is often associated with failure to thrive and recurrent episodes of dehydration. The combination of BS and cholelithiasis in an infant is very rare. Herein, we report a premature male infant with NBS who developed cholelithiasis and hydrocephalus on clinical follow up. We recommend that periodic routine hepatobiliary ultrasonograpic screening for cholelithiasis should be performed in patients with NBS...
September 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27648267/fetal-urine-biochemistry-in-antenatal-bartter-syndrome-a-case-report
#15
Myriam L Rachid, Sophie Dreux, Isabelle Czerkiewicz, Georges Deschênes, Rosa Vargas-Poussou, Dominique Mahieu-Caputo, Jean-François Oury, Françoise Muller
Bartter syndrome is a severe inherited tubulopathy responsible for renal salt wasting, and hence electrolyte disorders and dehydration. Prenatally, it is characterized by severe polyhydramnios caused by fetal polyuria. We studied for the first time fetal urine in a Bartter syndrome case and demonstrated that the tubulopathy is already present at 24 weeks of gestation.
September 2016: Clinical Case Reports
https://www.readbyqxmd.com/read/27633862/transient-antenatal-bartter-s-syndrome-and-x-linked-polyhydramnios-insights-from-the%C3%A2-genetics-of-a-rare-condition
#16
Raymond Quigley, Jeffrey M Saland
The discovery that mutations in MAGED2 cause a rare and transient form of antenatal Bartter's Syndrome may have implications beyond the very small number of affected families. Understanding the mechanism by which this severe form of Bartter's Syndrome resolves after birth could also provide new insights into the regulation of tubular transport and the response to tissue hypoxia.
October 2016: Kidney International
https://www.readbyqxmd.com/read/27530794/-gene-mutation-analysis-and-prenatal-diagnosis-of-a-family-with-bartter-syndrome
#17
Long Li, Na Ma, Xiu-Rong Li, Fei Gong, Juan DU
OBJECTIVE: To investigate the mutation of related genes and prenatal diagnosis of a family with Bartter syndrome (BS). METHODS: The high-throughput capture sequencing technique and PCR-Sanger sequencing were used to detect pathogenic genes in the proband of this family and analyze the whole family at the genomic level. After the genetic cause was clarified, the amniotic fluid was collected from the proband's mother who was pregnant for 5 months for prenatal diagnosis...
August 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27511787/renal-apnoea-extreme-disturbance-of-homoeostasis-in-a-child-with-bartter-syndrome-type-iv
#18
Lucy Anne Plumb, William Van't Hoff, Robert Kleta, Chris Reid, Emma Ashton, Martin Samuels, Detlef Bockenhauer
No abstract text is available yet for this article.
August 6, 2016: Lancet
https://www.readbyqxmd.com/read/27508752/-op-5c-05-increased-rho-kinase-activity-in-dialysis-and-stage-3-4-chronic-kidney-disease-patients-with-left-ventricular-hypertrophy-implications-with-cardiovascular-risk
#19
L Calo', U Vertolli, E Pagnin, V Ravarotto, E Naso, G Maiolino, A Naso
OBJECTIVE: Cardiovascular disease (CVD) is the leading cause of excess mortality in chronic kidney disease (CKD) and dialysis patients (DP) who have higher prevalence of left ventricular hypertrophy (LVH), the strongest predictor of CV events. Rho kinase (ROCK) activation is linked in hypertensive patients to cardiac remodeling while ROCK inhibition suppresses cardiomyocyte hypertrophy and, in a human model opposite to hypertension such as Bartter's/Gitelman's syndromes patients, its downregulation associates with lack of CV remodeling...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27432892/the-renal-outer-medullary-potassium-channel-inhibitor-mk-7145-lowers-blood-pressure-and-manifests-features-of-bartter-s-syndrome-type-ii-phenotype
#20
Caryn Hampton, Xiaoyan Zhou, Birgit T Priest, Lee-Yuh Pai, John P Felix, Brande Thomas-Fowlkes, Jessica Liu, Martin Kohler, Jianying Xiao, Aaron Corona, Olga Price, Charles Gill, Kashmira Shah, Cordelia Rasa, Vince Tong, Karen Owens, James Ormes, Haifeng Tang, Sophie Roy, Kathleen A Sullivan, Joseph M Metzger, Magdalena Alonso-Galicia, Gregory J Kaczorowski, Alexander Pasternak, Maria L Garcia
The renal outer medullary potassium (ROMK) channel, located at the apical surface of epithelial cells in the thick ascending loop of Henle and cortical collecting duct, contributes to salt reabsorption and potassium secretion, and represents a target for the development of new mechanism of action diuretics. This idea is supported by the phenotype of antenatal Bartter's syndrome type II associated with loss-of-function mutations in the human ROMK channel, as well as, by cardiovascular studies of heterozygous carriers of channel mutations associated with type II Bartter's syndrome...
October 2016: Journal of Pharmacology and Experimental Therapeutics
keyword
keyword
51029
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"