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https://www.readbyqxmd.com/read/28432081/glucose-tolerance-and-insulin-responsiveness-in-gitelman-syndrome-patients
#1
Tao Yuan, Lanping Jiang, Chen Chen, Xiaoyan Peng, Min Nie, Xuemei Li, Xiaoping Xing, Xuewang Li, Limeng Chen
Objective Impaired glucose metabolism and insulin sensitivity have been reported in patients with Gitelman syndrome (GS), but insulin secretion and the related mechanisms are not well understood. Design and Methods The serum glucose levels, insulin secretion and insulin sensitivity were evaluated in patients with GS (n=28), patients with type 2 diabetes mellitus (DM) and healthy individuals (n=20 in both groups) using an oral glucose tolerance test. Serum and urine sodium, potassium and creatinine levels were measured at 0, 30, 60, 120 and 180 min after an oral glucose load was administered...
April 21, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28399931/pilot-study-comparing-the-childhood-arthritis-rheumatology-research-alliance-carra-systemic-juvenile-idiopathic-arthritis-consensus-treatment-plans
#2
Yukiko Kimura, Sriharsha Grevich, Timothy Beukelman, Esi Morgan, Peter A Nigrovic, Kelly Mieszkalski, T Brent Graham, Maria Ibarra, Norman Ilowite, Marisa Klein-Gitelman, Karen Onel, Sampath Prahalad, Marilynn Punaro, Sarah Ringold, Dana Toib, Heather Van Mater, Jennifer E Weiss, Pamela F Weiss, Laura E Schanberg
OBJECTIVES: To assess the feasibility of studying the comparative effectiveness of the Childhood Arthritis and Rheumatology Research Alliance (CARRA) consensus treatment plans (CTPs) for systemic Juvenile Idiopathic Arthritis (JIA) using an observational registry. METHODS: Untreated systemic JIA patients enrolled in the CARRA Registry were begun on one of 4 CTPs chosen by the treating physician and patient/family (glucocorticoid [GC] alone; methotrexate [MTX] ± GC; IL1 inhibitor [IL1i] ± GC; IL6 inhibitor [IL6i] ± GC)...
April 11, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28393002/hellp-syndrome-in-a-pregnant-patient-with-gitelman-syndrome
#3
Minhyeok Lee, Dong-Il Kim, Kyung-Ho Lee, Jun-Hyun Byun, Jiyong Hwang, Won-Min Hwang, Sung-Ro Yun, Se-Hee Yoon
Gitelman syndrome is characterized by hypokalemia, metabolic alkalosis, hypocalciuria, and hypomagnesemia. The clinical course of Gitelman syndrome in pregnant women remains unclear, but it is thought to be benign. We report here the first Korean case of atypical eclampsia in a 31-year-old who was diagnosed with Gitelman syndrome incidentally during an antenatal screening test. The patient did well during pregnancy despite significant hypokalemia. At 33 weeks' gestation, the patient exhibited eclampsia, hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome, and renal insufficiency without significant hypertension or proteinuria...
March 2017: Kidney Research and Clinical Practice
https://www.readbyqxmd.com/read/28381550/clinical-and-genetic-spectrum-of-bartter-syndrome-type-3
#4
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/28353552/magnesium-cardiovascular-renal-disease-and-the-gitelman-s-syndrome-paradox
#5
Lorenzo A Calò, Giuseppe Maiolino, Marianna Alessi
No abstract text is available yet for this article.
May 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/28325561/a-new-slc12a3-founder-mutation-p-val647met-in-gitelman-s-syndrome-patients-of-roma-ancestry
#6
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/28302238/gitelman-syndrome
#7
Qurat Ul Ain Mustafa, Zujaja Hina Haroon, Aamir Ijaz, Muhammad Tanveer Sajid, Muhammad Ayyub
Gitelman syndrome (GS) is the most frequently inherited renal salt-wasting tubulointerstitial disease. It follows variable but usually asymptomatic benign course. We present a rare case of GS that remained clinical enigma. A 22-year male presented with severe episodic fatigue involving all limbs associated with episodes of sinking, palpitations, salt craving, increased thirst and frequent micturition hampering his routine daily activities. Laboratory workup revealed serum potassium, 2.7 mmol/L, serum magnesium, 0...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28251382/erratum-to-mutation-profile-and-treatment-of-gitelman-syndrome-in-chinese-patients
#8
Fen Wang, Chuan Shi, Yunying Cui, Chunyan Li, Anli Tong
No abstract text is available yet for this article.
March 1, 2017: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/28213045/identification-of-the-causes-for-chronic-hypokalemia-importance-of-urinary-sodium-and-chloride-excretion
#9
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/28182047/hyponatremia-a-rare-complication-of-gitelman-s-syndrome
#10
A Ganguli, J H Veis
Gitelman's syndrome (GS) is a rare autosomal recessive disorder caused by mutations in thiazide-sensitive NaCl cotransporter. We report a 49-year-old, normotensive lady with prolonged hypokalemia since her 20s who was diagnosed with GS at our renal clinic. During follow-up, she was found to have mild, asymptomatic, euvolemic hyponatremia with low serum uric acid, inappropriately high urine osmolality and sodium consistent with syndrome of inappropriate antidiuretic hormone-like presentation. Despite life-long urinary sodium losses, hyponatremia has rarely been reported in GS to be due to the primary disease process...
January 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/28162179/-clinical-and-genetic-characteristics-of-gitelman-syndrome-in-5-pedigrees
#11
R R Shi, C C Li, L Fang, J Xu, Q B Guan, X L Zhou, J Guo, W X Han, Q Chen, L Feng, J J Zhao, C Xu
Objective: To investigate the clinical and genetic characteristics of 5 pedigrees of Gitelman syndrome (GS), and summarize its advances in genetics, diagnosis and management. Methods: Five families with GS were identified and total genome DNA were extracted from the peripheral blood of all the family members. The exons and their flanking introns of SLC12A3 gene were amplified by PCR and screened for mutation using Autoassembler 2.0 software. Results: Six heterozygous SLC12A3 gene mutations were found in the five pedigrees, including two complex combination of deletion and insertion mutation (c...
February 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28125972/gitelman-syndrome-in-a-south-african-family-presenting-with-hypokalaemia-and-unusual-food-cravings
#12
Pieter Du Toit van der Merwe, Megan A Rensburg, William L Haylett, Soraya Bardien, M Razeen Davids
BACKGROUND: Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterised by renal salt wasting with hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria. It is caused by mutations in SLC12A3 encoding the sodium-chloride cotransporter on the apical membrane of the distal convoluted tubule. We report a South African family with five affected individuals presenting with hypokalaemia and unusual food cravings. METHODS: The affected individuals and two unaffected first degree relatives were enrolled into the study...
January 26, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28018459/a-novel-mutation-of-clcnkb-in-a-korean-patient-of-mixed-phenotype-of-bartter-gitelman-syndrome
#13
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/28003083/gitelman-syndrome-consensus-and-guidance-from-a-kidney-disease-improving-global-outcomes-kdigo-controversies-conference
#14
Anne Blanchard, Detlef Bockenhauer, Davide Bolignano, Lorenzo A Calò, Etienne Cosyns, Olivier Devuyst, David H Ellison, Fiona E Karet Frankl, Nine V A M Knoers, Martin Konrad, Shih-Hua Lin, Rosa Vargas-Poussou
Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The disease is recessively inherited, caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is usually detected during adolescence or adulthood, either fortuitously or in association with mild or nonspecific symptoms or both. The disease is characterized by high phenotypic variability and a significant reduction in the quality of life, and it may be associated with severe manifestations...
January 2017: Kidney International
https://www.readbyqxmd.com/read/27906863/bartter-s-and-gitelman-s-syndrome
#15
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/27872838/new-slc12a3-disease-causative-mutation-of-gitelman-s-syndrome
#16
Teresa Grillone, Miranda Menniti, Francesco Bombardiere, Marco Flavio Michele Vismara, Stefania Belviso, Fernanda Fabiani, Nicola Perrotti, Rodolfo Iuliano, Emma Colao
Gitelman's syndrome (GS) is a salt-losing tubulopathy with an autosomal recessive inheritance caused by mutations of SLC12A3, which encodes for the thiazide-sensitive NaCl cotransporter. In this study we report a new mutation of SLC12A3 found in two brothers affected by GS. Hypokalemia, hypocalciuria and hyper-reninemia were present in both patients while hypomagnesemia was detected only in one. Both patients are compound heterozygotes carrying one well known GS associated mutation (c.2581 C > T) and a new one (c...
November 6, 2016: World Journal of Nephrology
https://www.readbyqxmd.com/read/27815594/wnk-signalling-pathways-in-blood-pressure-regulation
#17
REVIEW
Meena Murthy, Thimo Kurz, Kevin M O'Shaughnessy
Hypertension (high blood pressure) is a major public health problem affecting more than a billion people worldwide with complications, including stroke, heart failure and kidney failure. The regulation of blood pressure is multifactorial reflecting genetic susceptibility, in utero environment and external factors such as obesity and salt intake. In keeping with Arthur Guyton's hypothesis, the kidney plays a key role in blood pressure control and data from clinical studies; physiology and genetics have shown that hypertension is driven a failure of the kidney to excrete excess salt at normal levels of blood pressure...
April 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/27806799/-a-case-of-gitelman-syndrome
#18
Q X Chen, Y G Sha, F Zhao
No abstract text is available yet for this article.
November 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27803420/acquired-gitelman-syndrome-in-an-anti-ssa-antibody-positive-patient-with-a-slc12a3-heterozygous-mutation
#19
Takeshi Kusuda, Tadashi Hosoya, Takayasu Mori, Katsuhito Ihara, Hidenori Nishida, Motoko Chiga, Eisei Sohara, Tatemitsu Rai, Ryuji Koike, Shinichi Uchida, Hitoshi Kohsaka
A 36-year-old woman developed hypokalemic metabolic alkalosis after anti SS-A antibody was found to be positive. Diuretic loading test results were compatible with Gitelman syndrome (GS). The patient had a heterozygous mutation in SLC12A3, which encodes for thiazide-sensitive NaCl cotransporter (NCCT). While the mutation may be responsible for a latent hypofunction of NCCTs, the underlying anti-SSA antibody-associated autoimmunity induced the manifestation of its hypofunction. To the best of our knowledge, this is the first report to demonstrate that anti SS-A antibody-associated autoimmunity may induce GS in a patient with a SLC12A3 heterozygous mutation...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27798456/future-considerations-based-on-the-information-from-barrter-s-and-gitelman-s-syndromes
#20
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
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