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https://www.readbyqxmd.com/read/28381550/clinical-and-genetic-spectrum-of-bartter-syndrome-type-3
#1
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/28325561/a-new-slc12a3-founder-mutation-p-val647met-in-gitelman-s-syndrome-patients-of-roma-ancestry
#2
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
#3
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/26770037/mutations-in-slc12a3-and-clcnkb-and-their-correlation-with-clinical-phenotype-in-patients-with-gitelman-and-gitelman-like-syndrome
#4
Jae Wook Lee, Jeonghwan Lee, Nam Ju Heo, Hae Il Cheong, Jin Suk Han
Gitelman's syndrome (GS) is caused by loss-of-function mutations in SLC12A3 and characterized by hypokalemic metabolic alkalosis, hypocalciuria, and hypomagnesemia. Long-term prognosis and the role of gene diagnosis in GS are still unclear. To investigate genotype-phenotype correlation in GS and Gitelman-like syndrome, we enrolled 34 patients who showed hypokalemic metabolic alkalosis without secondary causes. Mutation analysis of SLC12A3 and CLCNKB was performed. Thirty-one patients had mutations in SLC12A3, 5 patients in CLCNKB, and 2 patients in both genes...
January 2016: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/26443301/novel-brain-mri-abnormalities-in-gitelman-syndrome
#5
Ahmed El Beltagi, Alexander Norbash, Surjith Vattoth
Gitelman syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. The syndrome is caused by a defective thiazide-sensitive sodium chloride co-transporter in the distal convoluted tubules of the kidneys. Gitelman syndrome could be confused with Bartter syndrome; the main differentiating feature is the presence of low urinary calcium excretion in the former. Descriptions of neuroradiological imaging findings associated with Gitelman syndrome are very scarce in the literature and include basal ganglia calcification, idiopathic intracranial hypertension and sclerochoroidal calcification...
October 2015: Neuroradiology Journal
https://www.readbyqxmd.com/read/25880437/differential-diagnosis-of-bartter-syndrome-gitelman-syndrome-and-pseudo-bartter-gitelman-syndrome-based-on-clinical-characteristics
#6
Natsuki Matsunoshita, Kandai Nozu, Akemi Shono, Yoshimi Nozu, Xue Jun Fu, Naoya Morisada, Naohiro Kamiyoshi, Hiromi Ohtsubo, Takeshi Ninchoji, Shogo Minamikawa, Tomohiko Yamamura, Koichi Nakanishi, Norishige Yoshikawa, Yuko Shima, Hiroshi Kaito, Kazumoto Iijima
PURPOSE: Phenotypic overlap exists among type III Bartter syndrome (BS), Gitelman syndrome (GS), and pseudo-BS/GS (p-BS/GS), which are clinically difficult to distinguish. We aimed to clarify the differences between these diseases, allowing accurate diagnosis based on their clinical features. METHODS: A total of 163 patients with genetically defined type III BS (n = 30), GS (n = 90), and p-BS/GS (n = 43) were included. Age at diagnosis, sex, body mass index, estimated glomerular filtration rate, and serum and urine electrolyte concentrations were determined...
February 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/25754753/molecular-pathophysiology-of-bartter-s-and-gitelman-s-syndromes
#7
REVIEW
Efstathios Koulouridis, Ioannis Koulouridis
BACKGROUND: In the last two decades, progress in cytogenetic and genome research has enabled investigators to unravel the underlying molecular mechanisms of inherited tubulopathies such as Bartter's and Gitelman's syndromes and helped physicians to better understand not only these two pathologic entities but also renal pathophysiology and salt sensitive hypertension. DATA SOURCES: Articles collected from PubMed and open access journals included original articles, research articles, and comprehensive reviews...
May 2015: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/25606418/a-novel-mutation-of-clcnkb-in-a-japanese-patient-of-gitelman-like-phenotype-with-diuretic-insensitivity-to-thiazide-administration
#8
Kumiko Ohkubo, Tomoe Matsuzaki, Makiko Yuki, Ryoko Yoshida, Yuichi Terawaki, Akira Maeyama, Hironobu Kawashima, Junko Ono, Toshihiko Yanase, Akira Matsunaga
The clinical phenotypes of patients with Bartter syndrome type III sometimes closely resemble those of Gitelman syndrome. We report a patient with mild, adult-onset symptoms, such as muscular weakness and fatigue, who showed hypokalemic metabolic alkalosis, elevated renin-aldosterone levels with normal blood pressure, hypocalciuria and hypomagnesemia. She was also suffering from chondrocalcinosis. A diuretic test with furosemide and thiazide showed a good response to furosemide, but little response to thiazide...
December 2014: Meta Gene
https://www.readbyqxmd.com/read/25016940/-casual-diagnosis-of-gitelman-s-syndrome
#9
V Martín-Miguel, M A Lafarga-Giribets, L Garcia-Esteve, M D Rodrigo-Claverol
Gitelman's syndrome is a renal tubule disease of recessive autosomal inheritance in which the fundamental alteration is found in the distal tubule, specifically at the level of the Na/Cl cotransporter, is sensitive to thiazides, and coded in chromosome 16q. It is characterised by a metabolic alkalosis with normal blood pressure, hypokalaemia, as well as hypomagnesaemia and hypocalciuria, which separate it from Bartter's syndrome. Its diagnosis can be delayed up to the adult age, as patients may remain asymptomatic for long periods of time...
October 2014: Semergen
https://www.readbyqxmd.com/read/24904849/gitelman-syndrome-combined-with-complete-growth-hormone-deficiency
#10
Se Ra Min, Hyun Seok Cho, Jeana Hong, Hae Il Cheong, Sung Yeon Ahn
Gitelman syndrome is a rare autosomal recessive hereditary salt-losing tubulopathy, that manifests as hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. It is caused by mutations in the solute carrier family 12(sodium/chloride transporters), member 3 (SLC12A3) gene encoding the thiazide-sensitive sodium chloride cotransporter channel (NCCT) in the distal convoluted tubule of the kidney. It is associated with muscle weakness, cramps, tetany, vomiting, diarrhea, abdominal pain, and growth retardation...
March 2013: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/24171002/calcium-unresponsive-hypocalcemic-tetany-gitelman-syndrome-with-hypocalcemia
#11
Madhav Desai, Praveen Kumar Kolla, P L Venkata Pakki Reddy
Introduction. Gitelman's syndrome (GS) is autosomal recessive renal tubular disorder characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and hyperreninemic hyperaldosteronism. It is usually associated with normal serum calcium. We report a patient presented with hypocalcemic tetany, and evaluation showed Gitelman's syndrome with hypocalcemia. Case Report. A 28-year-old woman presented with cramps of the arms, legs, fatigue, and carpal spasms of one week duration. She has history of similar episodes on and off for the past two years...
2013: Case Reports in Medicine
https://www.readbyqxmd.com/read/23112035/gitelman-s-syndrome-presenting-with-hypocalcaemia-basal-ganglia-calcification-and-periodic-paralysis
#12
Susanta Kumar Das, Amritava Ghosh, Niloy Banerjee, Sudarshan Khaskil
Gitelman's syndrome (GS), also referred to as familial hypokalaemia-hypomagnesaemia syndrome, is an autosomal recessive renal tubular disorder characterised by hypokalaemic metabolic alkalosis, hypomagnesaemia and hypocalciuria. It is caused by a defect of the thiazide-sensitive sodium chloride co-transporter at the distal tubule. This condition was previously confused with Bartter syndrome. Documentation of hypocalciuria helps to differentiate GS from Bartter syndrome. We report a 44-year-old woman who presented with a history of seizure disorder and periodic paralysis...
October 2012: Singapore Medical Journal
https://www.readbyqxmd.com/read/22142744/miscellaneous-non-inflammatory-musculoskeletal-conditions-bartter-s-and-gitelman-s-diseases
#13
REVIEW
Marta Favero, Lorenzo A Calò, Franco Schiavon, Leonardo Punzi
Bartter's and Gitelman's syndromes are two different genetic renal diseases, but are both characterised by hypokalaemia and metabolic alkalosis. Bartter's syndrome is characterised by multiple gene mutations (Na-K-2Cl cotransporter; K(+) channels renal outer medullary potassium channel (ROMK); Cl channels, chloride channel Kb (ClCNKb); regulatory protein Barttin; and Ca(2+) -sensing receptor, CaSR) at the thick ascending limb of Henle's loop, while Gitelman's syndrome is caused by a mutation in the gene encoding the renal thiazide sensitive Na(+)-Cl(-) cotransporter, located in the apical membrane of the distal convoluted tubule...
October 2011: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/22022094/diuretic-loading-test-and-use-of-bartter-s-normogram-in-diagnosing-a-case-of-gitelman-s-syndrome-relook-into-pathophysiology
#14
R P Goswami, S Mandal, P S Karmakar, A Ghosh
Gitelman's syndrome is a rare autosomal recessive, renal tubular disorder, characterized by chronic hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria, and normal blood pressure. Patients usually present at a later age with episodic mild muscle weakness. Unexplained hypokalemia arouses suspicion. The diuretic loading test with furosemide and thiazide and the use of Bartter's normogram provides a practical and simple tool in comparison to the complex and costly genetic analysis, to confirm the diagnosis...
October 2011: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/21896412/-an-asymptomatic-chronic-hypokalaemia
#15
Marie-Pierre Otto, Valérie Cheminel, Lionel Crevon, Laurence Dubourg, Aoumeur Hadj-Aissa, Chantal Mounier, Jean-Michel Prevosto
We report the case of an asymptomatic patient presenting a severe chronic renal hypokalaemia. Once being sure of no diuretics use, two hypothesis can be mentioned for a normotensive patient presenting an hypokalaemia associated with a metabolic alcalosis: Bartter syndrome or Gitelman syndrome. The highlighting of low magnesaemia and hypocalciuria strongly concentrates the diagnosis on Gitelman syndrome. First, this has been strengthened by the results of renal function tests and later it has confirmed by molecular diagnosis with the identification of a known homozygous mutation on SLC12A3 gene...
July 2011: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/20931281/gitelman-syndrome-due-to-p-a204t-mutation-in-clcnkb-gene
#16
R Enríquez, V Adam, A E Sirvent, A B García-García, I Millán, F Amorós
A 45-year-old woman presented with phenotypical features suggestive of Gitelman syndrome (adult age at diagnosis, normal-low blood pressure, hypokalaemia, metabolic alkalosis, hypomagnesaemia, and hypocalciuria). Mutational analysis revealed no significant abnormality in SLC12A3 gene, but homozygous p.A204T mutation was found in the CLCNKB gene. This is a founder effect mutation described in Spanish patients with classic and atypical Bartter syndrome. This report confirms previous descriptions and expands the clinical spectrum of this mutation...
December 2010: International Urology and Nephrology
https://www.readbyqxmd.com/read/20810575/the-pharmacological-characteristics-of-molecular-based-inherited-salt-losing-tubulopathies
#17
Kandai Nozu, Kazumoto Iijima, Kyoko Kanda, Koichi Nakanishi, Norishige Yoshikawa, Kenichi Satomura, Hiroshi Kaito, Yuya Hashimura, Takeshi Ninchoji, Hiroshi Komatsu, Koichi Kamei, Ritsuko Miyashita, Masaaki Kugo, Hiroshi Ohashi, Hajime Yamazaki, Hiroyo Mabe, Asa Otsubo, Takashi Igarashi, Masafumi Matsuo
CONTEXT: Our understanding of inherited salt-losing tubulopathies has improved with recent advances in molecular genetics. However, the terminology of Bartter syndrome and Gitelman syndrome does not always accurately reflect their pathophysiological basis or clinical presentation, and some patients are difficult to diagnose from their clinical presentations. OBJECTIVE: In the present study, we conducted molecular analysis and diuretic tests for patients with inherited salt-losing tubulopathies to clarify the pharmacological characteristics of these disorders...
December 2010: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/20705448/anaesthesia-for-caesarean-section-in-a-patient-with-gitelman-s-syndrome
#18
S Shanbhag, J Neil, C Howell
Gitelman's syndrome is a rare autosomal recessive salt-losing renal tubulopathy characterised by hypomagnesaemia, hypocalciuria and secondary aldosteronism, which results in hypokalaemia and metabolic alkalosis. The syndrome is a variant of a group of renal diseases termed Bartter's syndrome. Diagnosis is based on clinical symptoms and biochemical abnormalities. Sources of information on Gitelman's syndrome in pregnancy are scarce and anaesthetic management is challenging. Close monitoring and supplementation of potassium and magnesium are required to avoid possible obstetric and life threatening complications for both mother and child...
October 2010: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/20552229/early-appearance-of-hypokalemia-in-gitelman-syndrome
#19
Fabiana Tammaro, Alberto Bettinelli, Donatella Cattarelli, Alessandra Cavazza, Carla Colombo, Marie-Louise Syrén, Silvana Tedeschi, Mario G Bianchetti
Inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive co-transporter causes Gitelman syndrome. The main features of this syndrome include normal or low blood pressure, hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, and hyperreninemia. These patients are at low risk for preterm birth and do not present with symptoms before school age. As a consequence, the condition is usually diagnosed in late childhood or in adult life. We report on four patients, two pairs of prematurely born twins, in whom hypokalemia was demonstrated early in life...
October 2010: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/20412406/hypokalaemia-and-failure-to-thrive-report-of-a-misleading-onset
#20
Giovanni Conti, Agata Vitale, Silvana Tedeschi, Marie-Louise Syrén, Roberta Pantano, Roberto Chimenz, Salvatore Fede, Francesco La Torre, Domenico Coviello, Carmelo Fede
AIM: We report a case of Gitelman Syndrome (GS) in a 9-year-old girl, previously diagnosed as a Bartter syndrome at one year of life. METHODS: She had been treated with potassium, for over 8 years and was admitted because of fatigue, numbness and weakness of both legs. The patient has typical laboratory findings, including hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria, thus GS was suspected. RESULTS: Genetic analysis was performed two mutations IVS9(+1)G>T were detected in the thiazide-sensitive Na-Cl cotransporter (TSC) gene (SLC12A3), thus she was diagnosed as having GS...
May 2010: Journal of Paediatrics and Child Health
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