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gitelman syndrome

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https://www.readbyqxmd.com/read/29319266/gitelman-syndrome-presenting-during-pregnancy-with-adverse-foetal-outcome
#1
N Nand, A R Deshmukh, R Mathur, V Chauhan, Brijlal
Gitelman syndrome (GS) is a rare autosomal recessive salt-losing tubulopathy. The incidence of Gitelman syndrome is 25 cases in 1 million among western population. This patient presented with loose stool, vomiting and sudden onset quadriparesis. Investigations revealed hypokalaemia, metabolic acidosis, hypomagnesaemia, hypocalciuria, hypermagnesuria. Symptoms and hypokalemia improved after starting oral magnesium and potassium supplements. But the patient again presented with symptomatic hypokalemia and delivered a still born foetus with hydrocephalus...
October 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29237739/salt-losing-tubulopathies-in-children-what-s-new-what-s-controversial
#2
Robert Kleta, Detlef Bockenhauer
Renal tubulopathies provide insights into the inner workings of the kidney, yet also pose therapeutic challenges. Because of the central nature of sodium in tubular transport physiology, disorders of sodium handling may affect virtually all aspects of the homeostatic functions of the kidney. Yet, owing to the rarity of these disorders, little clinical evidence regarding treatment exists. Consequently, treatment can vary widely between individual physicians and centers and is based mainly on understanding of renal physiology, reported clinical observations, and individual experiences...
December 13, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29218312/potassium-homeostasis-oxidative-stress-and-human-disease
#3
Udensi K Udensi, Paul B Tchounwou
Potassium is the most abundant cation in the intracellular fluid and it plays a vital role in the maintenance of normal cell functions. Thus, potassium homeostasis across the cell membrane, is very critical because a tilt in this balance can result in different diseases that could be life threatening. Both Oxidative stress (OS) and potassium imbalance can cause life threatening health conditions. OS and abnormalities in potassium channel have been reported in neurodegenerative diseases. This review highlights the major factors involved in potassium homeostasis (dietary, hormonal, genetic, and physiologic influences), and discusses the major diseases and abnormalities associated with potassium imbalance including hypokalemia, hyperkalemia, hypertension, chronic kidney disease, and Gordon's syndrome, Bartter syndrome, and Gitelman syndrome...
2017: International Journal of Clinical and Experimental Physiology
https://www.readbyqxmd.com/read/29093260/-a-case-of-gitelman-syndrome-with-physical-retardation
#4
Juan Huang, Xiangrong Zheng, Dandan Guo, Guoyuan Zhang, Xia Wang, Chentao Liu
Gitelman syndrome is a rare disease. It is easy to be misdiagnosed and missed diagnosis due to the diverse clinical symptoms. A girl with long-term hypokalemia, who presented with intermittent pain of lower limb muscle and physical retardation, was treated in Xiangya Hospital, Central South University. Laboratory examination confirmed the severe hypokalemia and metabolic alkalosis. Gene sequencing indicated SLC12A3 gene mutation and the patient was finally diagnosed as Gitelman syndrome. Patients with chronic hypokalemia and metabolic alkalosis need to conduct gene sequencing to confirm the diagnosis...
October 28, 2017: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/29051782/management-of-uncommon-disorders-in-pregnancy-von-hippel-lindau-disease-gitelman-syndrome-and-nutcracker-syndrome
#5
Basma Merhi, Margaret Miller, Aviya Lanis, Brittany Katz, Tiffany Hsu, Iris Tong
Uncommon renal disorders in pregnancy can be challenging to manage given limited evidence in the literature to guide management. We present a series of three uncommon renal disorders in pregnancy: Von Hippel-Lindau disease, Gitelman syndrome, and Nutcracker syndrome. Previously published case reports with differing outcomes offer some guidance to the management of these disorders in pregnancy. In this case series, we address the management of these syndromes during pregnancy and discuss the maternal and fetal outcomes...
September 2017: Obstetric Medicine
https://www.readbyqxmd.com/read/29044344/persistent-severe-hypokalemia-gitelman-syndrome-and-differential-diagnosis
#6
Christine Zomer Dal Molin, Daisson José Trevisol
The main causes of hypokalemia are usually evident in the clinical history of patients, with previous episodes of vomiting, diarrhea or diuretic use. However, in some patients the cause of hypokalemia can become a challenge. In such cases, two major components of the investigation must be performed: assessment of urinary excretion potassium and the acid-base status. This article presents a case report of a patient with severe persistent hypokalemia, complementary laboratory tests indicated that's it was hypomagnesaemia and hypocalciuria associated with metabolic alkalosis, and increase of thyroid hormones...
July 2017: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29026553/gitelman-syndrome-a-rare-life-threatening-case-of-hypokalemic-paralysis-mimicking-guillain-barr%C3%A3-syndrome-during-pregnancy-and-review-of-the-literature
#7
Abdelghafour Elkoundi, Noureddine Kartite, Mustapha Bensghir, Nawfal Doghmi, Salim Jaafar Lalaoui
In rare cases, patients with Gitelman syndrome may present with hypokalemic paralysis mimicking Guillain-Barré syndrome. The severity of resultant symptoms may be life-threatening. Controversial drugs such as aldactone, amiloride, and eplerenone should be used in this situation despite the lack of safety data.
October 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28947054/potential-role-of-genomic-sequencing-in-the-early-diagnosis-of-treatable-genetic-conditions
#8
Hengameh Zahed, Teresa N Sparks, Ben Li, Adnan Alsadah, Joseph T C Shieh
We present cases of 3 children diagnosed with the same genetic condition, Gitelman syndrome, at different stages using various genetic methods: panel testing, targeted single gene sequencing, and exome sequencing. We discuss the advantages and disadvantages of each method and review the potential of genomic sequencing for early disease detection.
October 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28870047/-expert-consensus-for-the-diagnosis-and-treatment-of-patients-with-gitelman-syndrome
#9
(no author information available yet)
Gitelman syndrome (GS) is an autosomal recessive, salt-losing tubulopathy caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. GS is one of the most common inherited renal tubulopathy with a prevalence estimated at about one to ten per 40 000 people. The prevalence of GS is even higher in Asia than other countries. The majority of GS patients present mild and nonspecific symptoms during adolescence or adulthood...
September 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28870037/-clinical-characteristics-of-a-case-of-gitelman-syndrome-and-the-gene-detection-analysis-in-family
#10
Y Yang, H Li, L X Shi
No abstract text is available yet for this article.
September 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28870029/-gitelman-syndrome-early-diagnosis-and-treatment
#11
N Chen
No abstract text is available yet for this article.
September 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28840514/g%C3%AE-q-p63rhogef-interaction-in-rhoa-rho-kinase-signaling-investigation-in-gitelman-s-syndrome-and-implications-with-hypertension
#12
E Pagnin, V Ravarotto, G Maiolino, E Naso, P A Davis, L A Calò
PURPOSE: Gitelman's syndrome (GS) presents normo-hypotension and absence of cardiovascular-renal remodeling despite high angiotensin II (Ang II), activation of renin-angiotensin-aldosterone system and is a human model of endogenous antagonism of Ang II signaling, opposite to hypertension. GS's clinical presentation leads to questions regarding what features might be responsible. One area of investigation involves Ang II signaling. In hypertensive patients, RhoA/Rho kinase (RhoA/ROCK) pathway activation by Ang II is involved in hypertension development/maintenance and induction of long-term consequences (cardiovascular-renal remodeling), while GS has reduced p63RhoGEF gene and protein levels and ROCK activity...
August 24, 2017: Journal of Endocrinological Investigation
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
#13
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...
November 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
#14
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
#15
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...
November 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
#16
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
#17
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
#18
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
#19
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...
October 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28553424/bilateral-idiopathic-sclerochoroidal-calcifications
#20
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
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