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[PMID]: 29237739
[Au] Autor:Kleta R; Bockenhauer D
[Ad] Address:UCL Centre for Nephrology and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
[Ti] Title:Salt-Losing Tubulopathies in Children: What's New, What's Controversial?
[So] Source:J Am Soc Nephrol;29(3):727-739, 2018 Mar.
[Is] ISSN:1533-3450
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. Salt-losing tubulopathies can affect all tubular segments, from the proximal tubule to the collecting duct. But the more frequently observed disorders are Bartter and Gitelman syndrome, which affect salt transport in the thick ascending limb of Henle's loop and/or the distal convoluted tubule, and these disorders generate the greatest controversies regarding management. Here, we review clinical and molecular aspects of salt-losing tubulopathies and discuss novel insights provided mainly by genetic investigations and retrospective clinical reviews. Additionally, we discuss controversial topics in the management of these disorders to highlight areas of importance for future clinical trials. International collaboration will be required to perform clinical studies to inform the treatment of these rare disorders.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:In-Data-Review
[do] DOI:10.1681/ASN.2017060600

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[PMID]: 29468618
[Au] Autor:Kumar Singh A; Kumar Maurya P; Kulshreshtha D; Deepak Thakkar M; Kumar Thacker A
[Ad] Address:Department of Neurology, Dr. Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh- 226010, India.
[Ti] Title:Analysis of Clinical and Metabolic Profile of Acute Neuromuscular Weakness Related to Hypokalemia.
[So] Source:Acta Neurol Taiwan;26(3):97-105, 2017 Sep 15.
[Is] ISSN:1028-768X
[Cp] Country of publication:China (Republic : 1949- )
[La] Language:eng
[Ab] Abstract: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). RESULTS: Forty patients were analysed and the mean age was 31.78 (range, 14-60) years and 35 (87.5%) were male.The underlying aetiologies comprised of IHP in 20, DHP in 12, RTA-2 in 4, RTA-1 in 2, TPP, GS in one each. Weakness on Medical Research Council (MRC) grade was 2.6±1.19 (range 0-4). Comparison of various clinical and laboratory parameters revealed that more patient in IHP and SG had recurrent attack (p=0.001). DHP group had low platelet (p=0.001), high creatine phosphokinase (CPK) (p=0.01) and serum glutamic oxaloacetic transaminase (SGOT) (p=0.008). SG had significantly lower serum potassium (p=0.04) and more time to improve (p=0.02). Recovery time correlated negatively with serum potassium (r=-0.44, p=0.004) and grade of weakness (r= 0.42,p=0.007). CONCLUSION: In half of the patients, secondary causes were identified. After IHP, the DHP emerged as second common cause in post monsoon season. SG had significantly lower serum potassium, recurrent attack and more time to improve.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180222
[Lr] Last revision date:180222
[St] Status:In-Data-Review

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[PMID]: 29378538
[Au] Autor:Chen Y; Zhang Z; Lin X; Pan Q; Zheng F; Li H
[Ad] Address:Department of Endocrinology, Zhejiang University School of Medicine Sir Run Run Shaw Hospital, 3 East Qing Chun Road, Zhejiang, Hangzhou, 310016, China.
[Ti] Title:A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree.
[So] Source:BMC Med Genet;19(1):17, 2018 Jan 29.
[Is] ISSN:1471-2350
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. Furthermore, we summarized their clinical manifestations and analyzed laboratory parameters related to GS. RESULTS: The female proband (the patient with GS) presented with intermittent fatigue and transient periods of tetany, along with significant hypokalemia, hypomagnesemia, and hypocalciuria. All other members of the pedigree had normal laboratory results without obvious GS-related symptoms. Genetic analysis of the SLC12A3 gene identified two novel missense mutations (c.1919A > G, p.N640S in exon 15; c.2522A > G, p.D841G in exon 21) in the patient with GS. Moreover, we demonstrated that her mother, younger maternal uncle, and cousin were carriers of one mutation (c.1919A > G), and her father was the carrier of the other (c.2522A > G). CONCLUSION: This is the first report of these two novel pathogenic variants of SLC12A3 and their contribution to GS. Further functional studies are particularly warranted to explore the underlying molecular mechanisms.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180209
[Lr] Last revision date:180209
[St] Status:In-Data-Review
[do] DOI:10.1186/s12881-018-0527-7

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[PMID]: 29398133
[Au] Autor:Ashton EJ; Legrand A; Benoit V; Roncelin I; Venisse A; Zennaro MC; Jeunemaitre X; Iancu D; Van't Hoff WG; Walsh SB; Godefroid N; Rotthier A; Del Favero J; Devuyst O; Schaefer F; Jenkins LA; Kleta R; Dahan K; Vargas-Poussou R; Bockenhauer D
[Ad] Address:North East Thames Regional Genetics Service Laboratories, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, UK.
[Ti] Title:Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.
[So] Source:Kidney Int;, 2018 Feb 01.
[Is] ISSN:1523-1755
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. This kit produced 571 amplicons covering 37 genes associated with tubulopathies followed by massive parallel sequencing and bioinformatic interpretation. Identified mutations were confirmed by Sanger sequencing. Overall, 384 index patients and 16 siblings were assessed. Most common clinical diagnoses were 174 patients with Bartter/Gitelman syndrome and 76 with distal renal tubular acidosis. A total of 269 different variants were identified in 27 genes, of which 95 variants were considered likely, 136 definitely pathogenic and 100 had not been described at annotation. These mutations established a genetic diagnosis in 245 of the index patients. Genetic testing changed the clinical diagnosis in 16 cases and provided insights into the phenotypic spectrum of the respective disorders. Our results demonstrate a high diagnostic yield of genetic testing in children with a clinical diagnosis of a renal tubulopathy, consistent with a predominantly genetic etiology in known disease genes. Thus, genetic testing helped establish a definitive diagnosis in almost two-thirds of patients thereby informing prognosis, management and genetic counseling.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180205
[Lr] Last revision date:180205
[St] Status:Publisher

  5 / 704 MEDLINE  
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[PMID]: 29319266
[Au] Autor:Nand N; Deshmukh AR; Mathur R; Chauhan V; Brijlal
[Ad] Address:Senior Professor and Unit Head.
[Ti] Title:Gitelman Syndrome: Presenting During Pregnancy with Adverse Foetal Outcome.
[So] Source:J Assoc Physicians India;65(10):104-105, 2017 Oct.
[Is] ISSN:0004-5772
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract: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. Patient was put on potassium sparing diuretics along with supplements and thereafter, has been asymptomatic. There have been very few case reports on Gitelman syndrome in pregnancy and most of them show favourable outcomes. This is a rare case report of a pregnant female with Gitelman syndrome with foetal loss.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180110
[Lr] Last revision date:180110
[St] Status:In-Data-Review

  6 / 704 MEDLINE  
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[PMID]: 28744758
[Au] Autor:Filippatos TD; Rizos CV; Tzavella E; Elisaf MS
[Ad] Address:Department of Internal Medicine, Medical School, University of Ioannina, 45110, Ioannina, Greece. filtheo@gmail.com.
[Ti] Title:Gitelman syndrome: an analysis of the underlying pathophysiologic mechanisms of acid-base and electrolyte abnormalities.
[So] Source:Int Urol Nephrol;50(1):91-96, 2018 Jan.
[Is] ISSN:1573-2584
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract: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. The knowledge of the pathophysiologic mechanisms is useful for the treatment of patients with Gitelman syndrome as well as for the understanding of other tubular diseases.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1707
[Cu] Class update date: 180109
[Lr] Last revision date:180109
[St] Status:In-Process
[do] DOI:10.1007/s11255-017-1653-4

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[PMID]: 29131070
[Au] Autor:Calò LA; Ravarotto V; Simioni F; Naso E; Marchini F; Bonfante L; Furian L; Rigotti P
[Ad] Address:Department of Medicine, Nephrology, Padova, Italy.
[Ti] Title:Pathophysiology of Post Transplant Hypertension in Kidney Transplant: Focus on Calcineurin Inhibitors Induced Oxidative Stress and Renal Sodium Retention and Implications with RhoA/Rho Kinase Pathway.
[So] Source:Kidney Blood Press Res;42(4):676-685, 2017 Oct 16.
[Is] ISSN:1423-0143
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:Post-transplant hypertension is a common occurrence during treatment with calcineurin inhibitors (CNIs) in kidney transplant population. The pathogenesis of vasoconstriction induced by CNIs involves vascular tone alterations and kidney sodium transport regulation. Among the factors involved a key role is played by the activation of intrarenal renin-angiotensin system with enhanced release of Angiotensin II (Ang II) and increase of oxidative stress. A common pathway between oxidative stress and hypertension induced by CNIs may be identified in the involvement of the activation of RhoA/Rho kinase pathway, key for the induction of hypertension and cardiovascular-renal remodeling, of the oxidative stress mediated increased nitric oxide (NO) metabolism and increased renal sodium retention via increased activity of thiazide-sensitive sodium chloride cotransporter (NCC) in the distal tubule. We examined literature data including those coming from our group regarding the role of oxidative stress and sodium retention in CNIs induced hypertension and their involvement in cardiovascular-renal remodeling. Based on the available data, we have provided support to the activation of RhoA/Rho kinase pathway as an important effector in the pathophysiology of CNIs induced post-transplant hypertension via activation of oxidative stress and sodium retention. Clarification of how the biochemical and molecular mechanisms that regulate the processes involved in CNIs induced post transplant hypertension work and interact, would provide further insights not only into the comprehension of the pathophysiology of CNIs induced post transplant hypertension but could also have a positive impact on the clinical ground through the identification of significant targets. Their specific pharmacologic targeting might have multiple beneficial effects on the whole cardiovascular-renal function. The demonstration that in kidney transplanted patients with CNIs induced post-transplanted hypertension, the treatment of hypertension with different antihypertensive drugs inducing a comparable blood pressure reduction but different effects for example on oxidative stress and oxidative stress related proteins and/or Rho kinase and sodium retention, could be helpful for the choice of the antihypertensive treatment in these patients which takes advantage from effects of these drugs beyond blood pressure reduction.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171113
[Lr] Last revision date:171113
[St] Status:Publisher
[do] DOI:10.1159/000483023

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[PMID]: 29093260
[Au] Autor:Huang J; Zheng X; Guo D; Zhang G; Wang X; Liu C
[Ad] Address:Department of Pediatrics, Xiangya Hospital, Central South University, Changsha 410008, China.
[Ti] Title:[A case of Gitelman syndrome with physical retardation].
[So] Source:Zhong Nan Da Xue Xue Bao Yi Xue Ban;42(10):1236-1238, 2017 Oct 28.
[Is] ISSN:1672-7347
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract: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. Gene therapy is expected to be the most effective treatment for this disease.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171102
[Lr] Last revision date:171102
[St] Status:In-Process
[do] DOI:10.11817/j.issn.1672-7347.2017.10.019

  9 / 704 MEDLINE  
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[PMID]: 29051782
[Au] Autor:Merhi B; Miller M; Lanis A; Katz B; Hsu T; Tong I
[Ad] Address:Division of Nephrology, Department of Medicine, Alpert Medical School of Brown University, Providence, USA.
[Ti] Title:Management of uncommon disorders in pregnancy: Von Hippel-Lindau disease, Gitelman syndrome, and Nutcracker syndrome.
[So] Source:Obstet Med;10(3):138-141, 2017 Sep.
[Is] ISSN:1753-495X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. All three of our patients had good maternal and fetal outcomes, which will contribute to current data on maternal and fetal outcomes in these rare diseases, which is limited.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171022
[Lr] Last revision date:171022
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1177/1753495X16683088

  10 / 704 MEDLINE  
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[PMID]: 29044344
[Au] Autor:Molin CZD; Trevisol DJ
[Ad] Address:Universidade do Sul de Santa Catarina.
[Ti] Title:Persistent severe hypokalemia: Gitelman syndrome and differential diagnosis.
[So] Source:J Bras Nefrol;39(3):337-340, 2017 Jul-Sep.
[Is] ISSN:2175-8239
[Cp] Country of publication:Brazil
[La] Language:eng; por
[Ab] Abstract: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. Thyrotoxic periodic paralysis was included in the differential diagnosis, but evolved into euthyroid state, persisting with severe hypokalemia, which led to be diagnosed as Gitelman syndrome.
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1710
[Cu] Class update date: 171018
[Lr] Last revision date:171018
[St] Status:In-Process


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