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gitelman syndrome

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https://www.readbyqxmd.com/read/29572370/two-cases-of-hypokalaemic-rhabdomyolysis-same-but-different
#1
Philipp Pecnik, Petra Müller, Sybille Vrabel, Martin Windpessl
In this paper, we present two women with hypokalaemic rhabdomyolysis in the context of increased diuretic intake and gastroenteritis, respectively. While their clinical manifestations and laboratory results were strikingly similar, two different underlying disorders were subsequently unveiled. The first patient was diagnosed with Conn syndrome, and adrenalectomy led to significant improvement of hypertension and sustained normokalaemia. The diagnosis in the second patient was Gitelman syndrome. Electrolyte supplements improved long-term lassitude and the frequency of muscle cramps declined significantly...
March 22, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29468618/analysis-of-clinical-and-metabolic-profile-of-acute-neuromuscular-weakness-related-to-hypokalemia
#2
Ajai Kumar Singh, Pradeep Kumar Maurya, Dinkar Kulshreshtha, Mayur Deepak Thakkar, Anup Kumar Thacker
OBJECTIVE: Acute neuromuscular weakness related to hypokalemia is a readily treatable disorder associated with diverse aetiologies. In this study we aim to report clinical pattern and biochemical features to identify the different aetiologies of the hypokalemic neuromuscular weakness. METHODS: Retrospective reviews of the medical record were analysed. Evaluation included demography, clinical features, investigations performed to ascertain the aetiologies. All the patients were categorised in to 3 groups; Idiopathic hypokalemic paralysis (IHP), dengue associated hypokalemic paralysis (DHP) and secondary group (SG) which included renal tubular acidosis (RTA- 1 and 2), thyrotoxic periodic paralysis (TPP) and Gitelman's syndrome (GS)...
September 15, 2017: Acta Neurologica Taiwanica
https://www.readbyqxmd.com/read/29403282/two-mutations-in-the-thiazide-sensitive-nacl-co-transporter-gene-in-a-romanian-gitelman-syndrome-patient-case-report
#3
Cristina Gug, Adelina Mihaescu, Ioana Mozos
Background: Gitelman syndrome (GS) is considered as the most common renal tubular disorder, and we report the first Romanian patient with GS confirmed at molecular level and diagnosed according to genetic testing. Patient and methods: This paper describes the case of a 27-year-old woman admitted with severe hypokalemia, slight hypomagnesemia, hypocalcemia, hypocalciuria, metabolic alkalosis, hyperreninemia, low blood pressure, limb muscle weakness, marked fatigue and palpitations...
2018: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/29398133/simultaneous-sequencing-of-37-genes-identified-causative-mutations-in-the-majority-of-children-with-renal-tubulopathies
#4
Emma J Ashton, Anne Legrand, Valerie Benoit, Isabelle Roncelin, Annabelle Venisse, Maria-Christina Zennaro, Xavier Jeunemaitre, Daniela Iancu, William G Van't Hoff, Stephen B Walsh, Nathalie Godefroid, Annelies Rotthier, Jurgen Del Favero, Olivier Devuyst, Franz Schaefer, Lucy A Jenkins, Robert Kleta, Karin Dahan, Rosa Vargas-Poussou, Detlef Bockenhauer
The clinical diagnosis of inherited renal tubulopathies can be challenging as they are rare and characterized by significant phenotypic variability. Advances in sequencing technologies facilitate the establishment of a molecular diagnosis. Therefore, we determined the diagnostic yield of a next generation sequencing panel assessing relevant disease genes in children followed through three national networks with a clinical diagnosis of a renal tubulopathy. DNA was amplified with a kit provided by the European Consortium for High-Throughput Research in Rare Kidney Diseases with nine multiplex PCR reactions...
April 2018: Kidney International
https://www.readbyqxmd.com/read/29378538/a-novel-compound-heterozygous-variant-of-the-slc12a3-gene-in-gitelman-syndrome-pedigree
#5
Yixin Chen, Ziyi Zhang, Xihua Lin, Qianqian Pan, Fenping Zheng, Hong Li
BACKGROUND: Gitelman syndrome (GS) is an autosomal recessive disorder caused by genic mutations of SLC12A3 (Solute carrier family 12 member 3), which encodes the Na-Cl cotransporter (NCC), and presents with characteristic metabolic abnormalities, including hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. In this study, we report a case of a GS pedigree, including analysis of GS-associated gene mutations. METHODS: We performed next-generation sequencing analysis and Sanger sequencing to explore the SLC12A3 mutations in a GS pedigree that included a 35-year-old female patient with GS and five family members within three generations...
January 29, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29375229/coexistence-of-gitelman-syndrome-and-hypertrophic-cardiomyopathy-in-a-pregnant-woman
#6
Abdullah Nabi Aslan, Serkan Sivri, Murat Can Güney, Telat Keleş Prof
Gitelman syndrome (GS) is transmitted as an autosomal recessive trait and characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The symptoms and severity of the disease can vary greatly from one person to another and can range from mild to severe. Sudden cardiac arrest has been reported occasionally as well. Here, for the first time, we reported a 34-year-old pregnant GS woman who was diagnosed to have hypertrophic obstructive cardiomyopathy during her cardiac examination for the complaints of palpitation and presyncope...
January 2018: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/29319266/gitelman-syndrome-presenting-during-pregnancy-with-adverse-foetal-outcome
#7
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
#8
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...
March 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29218312/potassium-homeostasis-oxidative-stress-and-human-disease
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
(no author information available yet)
Gitelman syndrome (GS) is an autosomal recessive, salt-losing tubulopathy caused by inactivating mutations in the SLC 12 A 3 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
#16
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
#17
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
#18
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...
March 2018: 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
#19
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
#20
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...
January 2018: International Urology and Nephrology
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