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https://www.readbyqxmd.com/read/28819721/inherited-not-acquired-gitelman-syndrome-in-a-patient-with-sj%C3%A3-gren-s-syndrome-importance-of-genetic-testing-to-distinguish-the-two-forms
#1
Eikan Mishima, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Takaaki Abe, Sadayoshi Ito
Gitelman syndrome (GS) is an autosomal recessive, salt-losing renal tubulopathy caused by mutations in the SLC12A3 gene; however, it can also be acquired in patients with autoimmune disease, especially in those with Sjögren's syndrome. Differentiating between the inherited and acquired forms of GS is clinically difficult. We report a case of inherited, not acquired, GS in a patient with Sjögren's syndrome. A 41-year-old woman, who had been diagnosed with Sjögren's syndrome at 27-years-old, had shown chronic hypokalemia (2...
August 17, 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28744758/gitelman-syndrome-an-analysis-of-the-underlying-pathophysiologic-mechanisms-of-acid-base-and-electrolyte-abnormalities
#2
REVIEW
T D Filippatos, C V Rizos, E Tzavella, M S Elisaf
Gitelman syndrome is the most common inherited tubular disease resulting from mutations of the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter in the early distal convoluted tubules. The review presents the underlying pathophysiologic mechanisms of acid-base and electrolyte abnormalities observed in patients with Gitelman syndrome. The syndrome is usually characterized by hypokalemic metabolic alkalosis in combination with hypomagnesemia and hypocalciuria. Additionally, increased chloride excretion and renin/aldosterone levels, hypophosphatemia (occasionally), hyponatremia (rarely) and glucose intolerance/insulin resistance have been reported...
July 25, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28739329/peptide-receptor-radionuclide-therapy-induced-gitelman-like-syndrome
#3
Aurelio Negro, Giovanni M Rossi, Davide Nicoli, Annibale Versari, Enrico Farnetti, Rosaria Santi, Stefano De Pietri
Peptide receptor radionuclide therapy (PRRT) is a molecular-targeted therapy in which a somatostatin analogue (a small peptide) is coupled with a radioligand so that the radiation dose is selectively administered to somatostatin receptor-expressing metastasized neuroendocrine tumors, particularly gastroenteropancreatic. Reported toxicities include myelotoxicity and nephrotoxicity, the latter manifesting as decreased kidney function, often developing months to years after treatment completion. We present a case of PRRT-induced kidney toxicity manifesting as a severe Gitelman-like tubulopathy with preserved kidney function...
July 21, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/28724114/oral-macrolides-for-the-dermatologic-manifestations-of-blau-syndrome
#4
Shalini Thareja, Kaitlyn Kollmann, Kaveh Ardalan, Marisa S Klein-Gitelman, Amy S Paller, Lisa M Arkin
No abstract text is available yet for this article.
July 19, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28700713/increased-urinary-prostaglandin-e2-metabolite-a-potential-therapeutic-target-of-gitelman-syndrome
#5
Xiaoyan Peng, Lanping Jiang, Chen Chen, Yan Qin, Tao Yuan, Ou Wang, Xiaoping Xing, Xuemei Li, Min Nie, Limeng Chen
BACKGROUND: Gitelman syndrome (GS), an inherited autosomal recessive salt-losing renal tubulopathy caused by mutations in SLC12A3 gene, has been associated with normal prostaglandin E2 (PGE2) levels since 1995 by a study involving 11 clinically diagnosed patients. However, it is difficult to explain why cyclooxygenase-2 (COX2) inhibitors, which pharmacologically reduce PGE2 synthesis, are helpful to patients with GS, and few studies performed in the last 20 years have measured PGE2 levels...
2017: PloS One
https://www.readbyqxmd.com/read/28685938/acquired-gitelman-syndrome-in-a-primary-sj%C3%A3-gren-syndrome-patient-with-a-slc12a3-heterozygous-mutation-a-case-report-and-literature-review
#6
Xiangchen Gu, Zheling Su, Min Chen, Yanqiu Xu, Yi Wang
Acquired Gitelman's syndrome (GS) associated with Sjögren syndrome (SS) is rare. A 50-year-old woman was admitted to our department because of nausea, acratia and sicca complex. Laboratory tests after admission showed renal failure, hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria, all of which met the diagnostic criteria for GS. Diagnostic evaluation identified primary SS as the cause of the acquired GS. Light microscopy of the renal tissue from the patient showed severe membranoproliferative glomerunephritis and tubulointerstitial nephritis...
August 2017: Nephrology
https://www.readbyqxmd.com/read/28674042/a-novel-hypokalemic-alkalotic-salt-losing-tubulopathy-in-patients-with-cldn10-mutations
#7
Ernie M H F Bongers, Luke M Shelton, Susanne Milatz, Sjoerd Verkaart, Anneke P Bech, Jeroen Schoots, Elisabeth A M Cornelissen, Markus Bleich, Joost G J Hoenderop, Jack F M Wetzels, Dorien Lugtenberg, Tom Nijenhuis
Mice lacking distal tubular expression of CLDN10, the gene encoding the tight junction protein Claudin-10, show enhanced paracellular magnesium and calcium permeability and reduced sodium permeability in the thick ascending limb (TAL), leading to a urine concentrating defect. However, the function of renal Claudin-10 in humans remains undetermined. We identified and characterized CLDN10 mutations in two patients with a hypokalemic-alkalotic salt-losing nephropathy. The first patient was diagnosed with Bartter syndrome (BS) >30 years ago...
July 3, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28620062/urine-biomarkers-to-predict-response-to-lupus-nephritis-therapy-in-children-and-young-adults
#8
Hermine I Brunner, Michael R Bennett, Gaurav Gulati, Khalid Abulaban, Marisa S Klein-Gitelman, Stacy P Ardoin, Lori B Tucker, Kelly A Rouster-Stevens, David Witte, Jun Ying, Prasad Devarajan
OBJECTIVE: To delineate urine biomarkers that forecast response to therapy of lupus nephritis (LN). METHODS: Starting from the time of kidney biopsy, patients with childhood-onset systemic lupus erythematosus who were diagnosed with LN were studied serially. Levels of 15 biomarkers were measured in random spot urine samples, including adiponectin, α-1-acid glycoprotein (AGP), ceruloplasmin, hemopexin, hepcidin, kidney injury molecule 1, monocyte chemotactic protein-1, lipocalin-like prostaglandin D synthase (LPGDS), transforming growth factor-β (TGF-β), transferrin, and vitamin D binding protein (VDBP)...
August 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28553424/bilateral-idiopathic-sclerochoroidal-calcifications
#9
Venkatesh L Brahma, Sumit P Shah, Nauman A Chaudhry, Jonathan L Prenner
BACKGROUND: Sclerochoroidal calcification (SCC) is a rare and benign condition found mostly in middle-aged and elderly Caucasian men, characterized by multiple yellow-white lesions seen most commonly in the temporal regions of the fundus. While they may be concerning for benign tumors, primary neoplasias or metastases, SCCs most commonly present as asymptomatic findings during routine ophthalmologic testing and have a very good prognosis as they rarely cause visual deficits. OBJECTIVE: To report and describe the findings in a case of bilateral idiopathic sclerochoroidal calcifications...
2017: Open Ophthalmology Journal
https://www.readbyqxmd.com/read/28538425/a-young-man-with-recurrent-paralysis
#10
Magdalena Chavez, Jeffrey Williams
Hypokalemia can cause reactions from mild muscular cramping to life-threatening paralysis and cardiac dysrhythmias. This article describes a patient whose unusual, recurrent muscular symptoms and electrolyte abnormalities were eventually identified as Gitelman syndrome, a rare genetic disorder resulting in severe refractory hypokalemia.
June 2017: JAAPA: Official Journal of the American Academy of Physician Assistants
https://www.readbyqxmd.com/read/28498361/rectal-cancer-in-a-patient-with-bartter-syndrome-a-case-report
#11
Shiki Fujino, Norikatsu Miyoshi, Masayuki Ohue, Mikio Mukai, Yoji Kukita, Taishi Hata, Chu Matsuda, Tsunekazu Mizushima, Yuichiro Doki, Masaki Mori
A woman with rectal cancer was scheduled for surgery. However, she also had hypokalemia, hyperreninemia, and hyperaldosteronism in the absence of any known predisposing factors or endocrine tumors. She was given intravenous potassium, and her blood abnormalities stabilized after tumor resection. Genetic analysis revealed mutations in several genes associated with Bartter syndrome (BS) and Gitelman syndrome, including SLC12A1, CLCNKB, CASR, SLC26A3, and SLC12A3. Prostaglandin E2 (PGE2) plays an important role in BS and worsens electrolyte abnormalities...
May 12, 2017: Genes
https://www.readbyqxmd.com/read/28469853/hypokalemia-hypomagnesemia-hypocalciuria-and-recurrent-tetany-gitelman-syndrome-in-a-chinese-pedigree-and-literature-review
#12
Ming-Feng Xia, Hua Bian, Hong Liu, Hui-Juan Wu, Zhi-Gang Zhang, Zhi-Qiang Lu, Xin Gao
Gitelman syndrome is an autosomal recessive disease mostly associated with loss-of-function mutations of the SLC12A3 gene and featured by clinical hypokalemia, hypomagnesemia, hypocalciuria, and histologically hypertrophy of the juxtaglomerular apparatus. A novel homozygous mutation (p.Arg399Pro) at the extracellular domain of SLC12A3 was found and correlated with the severe clinical manifestations.
May 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28446151/novel-mutation-in-the-slc12a3-gene-in-a-sri-lankan-family-with-gitelman-syndrome-coexistent-diabetes-a-case-report
#13
Chandrika Jayakanthi Subasinghe, Nirmala Dushyanthi Sirisena, Chula Herath, Knut Erik Berge, Trond Paul Leren, Uditha Bulugahapitiya, Vajira Harshadeva Weerabaddana Dissanayake
BACKGROUND: Gitelman syndrome (GS) is a rare autosomal recessively inherited salt-wasting tubulopathy associated with mutations in the SLC12A3 gene, which encodes for NaCl cotransporter (NCC) in the kidney. CASE PRESENTATION: In this report, we describe two siblings from a Sri Lankan non-consanguineous family presenting with hypokalaemia associated with renal potassium wasting, hypomagnesemia, hypocalciuria and hypereninemic hyperaldosteronism with normal blood pressure...
April 26, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28432081/glucose-tolerance-and-insulin-responsiveness-in-gitelman-syndrome-patients
#14
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...
May 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28424892/bayesian-characterization-of-uncertainty-in-species-interaction-strengths
#15
Christopher Wolf, Mark Novak, Alix I Gitelman
Considerable effort has been devoted to the estimation of species interaction strengths. This effort has focused primarily on statistical significance testing and obtaining point estimates of parameters that contribute to interaction strength magnitudes, leaving the characterization of uncertainty associated with those estimates unconsidered. We consider a means of characterizing the uncertainty of a generalist predator's interaction strengths by formulating an observational method for estimating a predator's prey-specific per capita attack rates as a Bayesian statistical model...
June 2017: Oecologia
https://www.readbyqxmd.com/read/28399931/pilot-study-comparing-the-childhood-arthritis-rheumatology-research-alliance-carra-systemic-juvenile-idiopathic-arthritis-consensus-treatment-plans
#16
COMPARATIVE STUDY
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
#17
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/28387151/exploring-safety-impacts-of-pedestrian-crossing-configurations-at-signalized-junctions-on-urban-roads-with-public-transport-routes
#18
Victoria Gitelman, Roby Carmel, Etti Doveh, Shalom Hakkert
This study explored the impacts of pedestrian-crossing configurations and other design features, on accident occurrences at signalized junctions situated on central public transport routes (PTRs) of urban arterials. Statistical tests and negative-binomial regression models were applied to identify factors affecting accidents and to examine accident numbers of the PTR junctions as opposed to comparison-sites. At the PTR junctions, a consistent impact of pedestrian-crossing configurations on accidents was found, where a gradated-crossing with mixed-shifting is the least safe...
April 7, 2017: International Journal of Injury Control and Safety Promotion
https://www.readbyqxmd.com/read/28381550/clinical-and-genetic-spectrum-of-bartter-syndrome-type-3
#19
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...
August 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28371513/early-outcomes-in-children-with-antineutrophil-cytoplasmic-antibody-associated-vasculitis
#20
Kimberly A Morishita, Lakshmi N Moorthy, Joanna M Lubieniecka, Marinka Twilt, Rae S M Yeung, Mary B Toth, Susan Shenoi, Goran Ristic, Susan M Nielsen, Raashid A Luqmani, Suzanne C Li, Tzielan Lee, Erica F Lawson, Mikhail M Kostik, Marisa Klein-Gitelman, Adam M Huber, Aimee O Hersh, Dirk Foell, Melissa E Elder, Barbara A Eberhard, Paul Dancey, Sirirat Charuvanij, Susanne M Benseler, David A Cabral
OBJECTIVE: To characterize the early disease course in childhood-onset antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) and the 12-month outcomes in children with AAV. METHODS: Eligible subjects were children entered into the Pediatric Vasculitis Initiative study who were diagnosed before their eighteenth birthday as having granulomatosis with polyangiitis (Wegener's), microscopic polyangiitis, eosinophilic granulomatosis with polyangiitis (Churg-Strauss), or ANCA-positive pauci-immune glomerulonephritis...
July 2017: Arthritis & Rheumatology
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