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Bartter syndrome

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 non-related 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...
October 17, 2016: Acta Paediatrica
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
Shyamal Das, A Chakraborty
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
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
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
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
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
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
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
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
A Grill, I M Schießl, B Gess, K Fremter, A Hammer, H Castrop
AIM: The basolateral chloride channel ClC-Kb facilitates Cl reabsorption in the distal nephron of the human kidney. Functional mutations in CLCNKB are associated with Bartter's syndrome type 3, a hereditary salt-losing nephropathy. To address the function of ClC-K2 in vivo, we generated ClC-K2-deficient mice. METHODS: ClC-K2-deficient mice were generated using TALEN technology. RESULTS: ClC-K2-deficient mice were viable and born in a Mendelian ratio...
July 16, 2016: Acta Physiologica
Sonia Halioui-Louhaichi, Amel Ben Chehida, Rim Hassouna, Tayeb Massaoud, Marie Françoise Ben Dridi, Sihem Barsaoui, Azza Gharbi-Sammoud, Neji Tebib, Ahmed Maherzi
BACKGROUND: The frequency of cystic fibrosis is unknown in Tunisia, regarding the limited number of reported surveys and patients. AIM: to determine the clinical characteristics, outcome and genetic data of cystic fibrosis in Tunisian pediatric patients. METHODS: Cases of cystic fibrosis managed at pediatric departments of Tunis, during 15 years (1997-2012), were reviewed. RESULTS: 33 children (23 males and 10 females) were enrolled...
August 2015: La Tunisie Médicale
Bernhard Mayr, Markus Glaudo, Christof Schöfl
Activating mutations of the G protein-coupled receptor, calcium-sensing receptor (CaSR), cause autosomal dominant hypocalcemia and Bartter syndrome type 5. These mutations lower the set-point for extracellular calcium sensing, thereby causing decreased parathyroid hormone secretion and disturbed renal calcium handling with hypercalciuria. Available therapies increase serum calcium levels but raise the risk of complications in affected patients. Symptom relief and the prevention of adverse outcome is currently very difficult to achieve...
September 2016: Trends in Endocrinology and Metabolism: TEM
J Christopher Hennings, Olga Andrini, Nicolas Picard, Marc Paulais, Antje K Huebner, Irma Karen Lopez Cayuqueo, Yohan Bignon, Mathilde Keck, Nicolas Cornière, David Böhm, Thomas J Jentsch, Régine Chambrey, Jacques Teulon, Christian A Hübner, Dominique Eladari
Chloride transport by the renal tubule is critical for blood pressure (BP), acid-base, and potassium homeostasis. Chloride uptake from the urinary fluid is mediated by various apical transporters, whereas basolateral chloride exit is thought to be mediated by ClC-Ka/K1 and ClC-Kb/K2, two chloride channels from the ClC family, or by KCl cotransporters from the SLC12 gene family. Nevertheless, the localization and role of ClC-K channels is not fully resolved. Because inactivating mutations in ClC-Kb/K2 cause Bartter syndrome, a disease that mimics the effects of the loop diuretic furosemide, ClC-Kb/K2 is assumed to have a critical role in salt handling by the thick ascending limb...
June 22, 2016: Journal of the American Society of Nephrology: JASN
R Narayan, M Peres, G Kesby
Bartter syndrome is a rare heterogeneous group of autosomal-recessive salt-losing renal tubular disorders that can present in fetal life (antenatal Bartter syndrome; ABS) as "unexplained" early-onset polyhydramnios, often associated with growth restriction. Prenatal diagnosis of the condition involves assessment of amniotic fluid biochemistry in a setting of polyuric polyhydramnios; with elevated chloride levels considered a consistent and diagnostic finding. Other amniotic fluid biochemical markers have been described, notably increased aldosterone levels, and low total protein levels...
2016: Clinical and Experimental Obstetrics & Gynecology
S S Huque, M H Rahman, S Khatun
Bartter syndrome (BS) is a hereditary disease, with an autosomal recessive or autosomal dominant mode of transmission. It is characterized by salt wasting hypochloraemic, hypokalaemic metabolic alkalosis and hyperreninaemia with normal blood pressure. The primary defect is in the thick ascending limb of loop of Henle (TAL). Herein, we report a case that had typical features of BS like severe dehydration, severe hypokalaemia, metabolic alkalosis and failure to thrive but had normal aldosterone level which is very uncommon...
April 2016: Mymensingh Medical Journal: MMJ
Lorenzo A Calò, Paul A Davis, Giuseppe Maiolino, Elisa Pagnin, Verdiana Ravarotto, Elena Naso, Gianni Carraro, Agostino Naso
HYPOTHESIS/INTRODUCTION: Angiotensin II (Ang II) has been shown to control erythropoietin (EPO) synthesis as Ang II type 1 receptor (AT1R) blockers block Ang-II-induced EPO oversecretion. To further explore the involvement of AT1R in processes controlling EPO levels, plasma EPO and mononuclear cell NADPH oxidase 4 (NOX4) - a NOX family member involved in oxygen sensing, which is a process central to controlling EPO levels - were assessed in Bartter's/Gitelman's syndrome (BS/GS) patients, a human model of endogenous AT1R antagonism and healthy subjects...
December 2015: Cardiorenal Medicine
A C V Kumar, M H K Reddy, V Chaitanya, B S Lakshmi, R Ram, V S Kumar
No abstract text is available yet for this article.
May 2016: Indian Journal of Nephrology
Shabbir Hussain
Neonatal Bartter syndrome (NBS) is an autosomal recessive renal tubulopathy characterized by hypokalaemic, hypochloraemic metabolic alkalosis associated with increased urinary loss of sodium, potassium, calcium and chloride. There is hyperreninaemia and hyperaldosteronaemia but normotension. Congenital adrenal hyperplasia (CAH), another autosomal recessive condition, may present in the neonatal period with vomiting, hypovolaemia, failure to gain weight or ambiguous genitalia. We report a case of NBS and CAH combination in a neonate...
May 2016: JPMA. the Journal of the Pakistan Medical Association
Susan J Allison
No abstract text is available yet for this article.
July 2016: Nature Reviews. Nephrology
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