1,824 results match your criteria Bartter Syndrome


Markers of potassium homeostasis in salt losing tubulopathies- associations with hyperaldosteronism and hypomagnesemia.

BMC Nephrol 2020 Jul 6;21(1):256. Epub 2020 Jul 6.

Division of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna, Währinger Gürtel 18-20, A-1090, Vienna, Austria.

Background: Renal loss of potassium (K) and magnesium (Mg) in salt losing tubulopathies (SLT) leads to significantly reduced Quality of Life (QoL) and higher risks of cardiac arrhythmia. The normalization of K is currently the most widely accepted treatment target, however in even excellently designed RCTs the increase of K was only mild and rarely normalized. These findings question the role of K as the ideal marker of potassium homeostasis in SLT. Read More

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http://dx.doi.org/10.1186/s12882-020-01905-7DOI Listing

Two novel mutations in the gene leading to classic Bartter syndrome presenting as syncope and hypertension in a 13-year-old boy.

BMJ Case Rep 2020 Jul 5;13(7). Epub 2020 Jul 5.

School of Medicine, Vietnam National University, Ho Chi Minh City, Vietnam.

Classic Bartter syndrome is a rare condition caused by mutations in the gene and characterised by metabolic alkalosis, hypokalaemia, hyper-reninaemia and hyperaldosteronism. Early signs and symptoms usually occur before a child's sixth birthday and include polyuria and developmental delay. We treated a 13-year-old Vietnamese boy with this syndrome presenting with atypical presentations including syncope and hypertension, but normal growth and development. Read More

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http://dx.doi.org/10.1136/bcr-2019-233872DOI Listing

[Bartter-Gitelman syndromes].

Nephrol Ther 2020 Jul 1. Epub 2020 Jul 1.

Département de génétique, hôpital européen Georges-Pompidou, 20, rue Leblanc, 75015 Paris, France; Centre de Référence de maladies rénales rares de l'enfant et de l'adulte (MARHEA), Paris, France.

Bartter-Gitelman syndromes are rare inherited autosomal recessive salt-losing tubulopathies characterized by severe and chronic hypokalemia associated with metabolic alkalosis and secondary hyperaldosteronism. Bartter syndrome results from a furosemide-like defect in sodium reabsorption in the Henle's loop leading to hypercalciuria and defect in urinary concentration capacity. The antenatal Bartter syndrome is defined by polyhydramnios and an infantile polyuria with severe dehydration whereas classic Bartter syndrome appears during childhood or adulthood. Read More

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http://dx.doi.org/10.1016/j.nephro.2020.06.001DOI Listing

Transient hyponatremia of prematurity caused by mild Bartter syndrome type II: a case report.

BMC Pediatr 2020 Jun 26;20(1):311. Epub 2020 Jun 26.

Department of Pediatrics, Schulich School of Medicine and Dentistry, University of Western Ontario, 1151 Richmond Street, London, ON, N6A5C1, Canada.

Background: Bartter syndrome subtypes are a group of rare renal tubular diseases characterized by impaired salt reabsorption in the tubule, specifically the thick ascending limb of Henle's loop. Clinically, they are characterized by the association of hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. Bartter syndrome type II is caused by mutations in the renal outer medullary potassium channel (ROMK) gene (KCNJ1), can present in the newborn period and typically requires lifelong therapy. Read More

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http://dx.doi.org/10.1186/s12887-020-02214-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318402PMC

Genetics of kidney stone disease.

Nat Rev Urol 2020 Jul 12;17(7):407-421. Epub 2020 Jun 12.

Academic Endocrine Unit, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.

Kidney stone disease (nephrolithiasis) is a common problem that can be associated with alterations in urinary solute composition including hypercalciuria. Studies suggest that the prevalence of monogenic kidney stone disorders, including renal tubular acidosis with deafness, Bartter syndrome, primary hyperoxaluria and cystinuria, in patients attending kidney stone clinics is ∼15%. However, for the majority of individuals, nephrolithiasis has a multifactorial aetiology involving genetic and environmental factors. Read More

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http://dx.doi.org/10.1038/s41585-020-0332-xDOI Listing

Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency.

CEN Case Rep 2020 Jun 6. Epub 2020 Jun 6.

Department of Nephrology, Nagasaki University School of Medicine Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki, 852-8102, Japan.

Bartter syndrome and Gitelman syndrome (GS) are autosomal recessive disorders usually caused by homozygous or compound heterozygous mutations in causative genes. In some patients, these two syndromes cannot be discriminated based on clinical features or mutation type; thus, a single disease concept, salt-losing tubulopathies (SLTs), has been used instead. Despite the existence of several SLT causative genes, cases of digenic heterozygous mutations in two different genes are extremely rare. Read More

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http://dx.doi.org/10.1007/s13730-020-00489-3DOI Listing

Antenatal Bartter Syndrome: A Case Report.

Mymensingh Med J 2020 Apr;29(2):469-472

Dr Mahboba Akther, Resident Phase-B, Department of Neonatology, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh.

Bartter syndrome is an autosomal recessive disorder manifested by a defect in sodium-potassium-chloride transport in the thick ascending limb of Henle with different genetic origins and molecular pathophysiology. Bartter syndrome usually a common disease in children and in early infancy presented with persistent polyuria and associated with dehydration, electrolyte imbalance, and failure to thrive. Though prompt diagnosis and proper treatment of Bartter syndrome may improve the outcome, some children will progress to renal failure. Read More

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Co-Existence of Congenital Adrenal Hyperplasia and Bartter Syndrome due to Maternal Uniparental Isodisomy of HSD3B2 and CLCNKB Mutations.

Horm Res Paediatr 2020 Jun 5;93(1):66-71. Epub 2020 Jun 5.

Guy's and St Thomas' Hospital NHS Foundation Trust, London, United Kingdom.

Introduction: We present a patient with co-existence of 3β-hydroxysteroid dehydrogenase type 2 (HSD3B2) deficiency and Bartter syndrome, a unique dual combination of opposing pathologies that has not been reported previously in the literature.

Case: A female infant (46,XX) born at 34/40 weeks' gestation, weighing 2.67 kg (-1. Read More

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http://dx.doi.org/10.1159/000507577DOI Listing
June 2020
1.713 Impact Factor

Cystic Fibrosis Presenting as Pseudo-Bartter Syndrome: An Important Diagnosis that is Missed!

Indian J Pediatr 2020 Jun 5. Epub 2020 Jun 5.

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.

Cystic fibrosis (CF), an autosomal recessive disorder, occurs due to mutations in CFTR gene resulting in impaired cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel function in various epithelia. In addition to the well-known pulmonary and pancreatic morbidities, CF is characterized by electrolyte and acid-base abnormalities- hypochloremia, hyponatremia, hypokalemia and metabolic alkalosis. These are collectively known as Pseudo-Bartter syndrome, as similar abnormalities are seen in Bartter syndrome- an inherited tubulopathy affecting thick ascending limb of loop of Henle. Read More

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http://dx.doi.org/10.1007/s12098-020-03342-8DOI Listing

The hypokalemia mystery: distinguishing Gitelman and Bartter syndromes from 'pseudo-Bartter syndrome'.

Nephrol Dial Transplant 2020 Jun 3. Epub 2020 Jun 3.

Division of Nephrology and Hypertension, Department of Internal Medicine, American University of Beirut, Beirut, Lebanon.

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http://dx.doi.org/10.1093/ndt/gfaa100DOI Listing

Small Molecule Channels Harness Membrane Potential to Concentrate Potassium in trk1Δtrk2Δ Yeast.

ACS Chem Biol 2020 Jun 3;15(6):1575-1580. Epub 2020 Jun 3.

Department of Biochemistry, University of Illinois at Urbana-Champaign, 600 South Mathews Ave., Urbana, Illinois 61801, United States.

Many protein ion channels harness membrane potential to move ions in opposition to their chemical gradient. Deficiencies of such proteins cause several human diseases, including cystic fibrosis, Bartter Syndrome, and proximal renal tubular acidosis. Using yeast as a eukaryotic model system, we asked whether, in the context of a protein ion channel deficiency , small molecule channels could similarly harness membrane potential to concentrate ions. Read More

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http://dx.doi.org/10.1021/acschembio.0c00180DOI Listing

Urinary Extracellular Vesicles and Salt-Losing Tubulopathies: A Proteomic Approach.

Proteomes 2020 May 9;8(2). Epub 2020 May 9.

School of Medicine and Surgery, University Milan Bicocca, 20900 Monza, Italy.

Renal tubular cells release urinary extracellular vesicles (uEV) that are considered a promising source of molecular markers for renal dysfunction and injury. We investigated uEV proteomes of patients with hereditary salt-losing tubulopathies (SLTs), focusing on those caused by Gitelman and Bartter (BS) syndromes, to provide potential markers for differential diagnosis. Second morning urine was collected from patients with genetically proven SLTs and uEV were isolated by the ultracentrifugation-based protocol. Read More

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http://dx.doi.org/10.3390/proteomes8020009DOI Listing

ACE2 and prognosis of COVID-19. Insights from Bartter's and Gitelman's syndromes patients.

J Med Virol 2020 May 6. Epub 2020 May 6.

Department of Medicine, Nephrology, Dialysis and Transplantation Unit, University of Padova, Italy.

The relationship between Renin-Angiotensin system (RAS) and COVID-19 pandemic and, in particular, RAS as part of the CoV-2 infection process via Angiotensin Converting Enzyme 2 (ACE2), the entry point of SARS-CoV-2, has resulted in conflicting suggestions regarding how RAS and its role(s) should inform treating COVID-19. ACE inhibitors or angiotensin II (Ang)-type 1 receptor blockers (ARBs), in fact, have been suggested to be avoided as they potentially upregulate ACE2 and, conversely, there are suggestions that ARBs might be beneficial as SARS-CoV-2 causing ACE2 downregulation slows the Ang II conversion to the vasodilatory, anti-inflammatory, antioxidant and antiatherosclerotic Ang 1-7 , and the use of ARBs by blocking the excessive Ang II type-1 receptors activation, would be beneficial upregulating ACE2 activity and increasing Ang 1-7 levels. This article is protected by copyright. Read More

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http://dx.doi.org/10.1002/jmv.25978DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7267417PMC

Clinical features and accompanying findings of Pseudo-Bartter Syndrome in cystic fibrosis.

Pediatr Pulmonol 2020 May 4. Epub 2020 May 4.

Department of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

Background: Pseudo-Bartter syndrome (PBS) is a rare complication of cystic fibrosis (CF) and there are limited data in the literature about it. We aimed to compare clinical features and accompanying findings of patients with PBS in a large patient population.

Methods: The data were collected from the Cystic Fibrosis Registry of Turkey where 1170 CF patients were recorded in 2017. Read More

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http://dx.doi.org/10.1002/ppul.24805DOI Listing

A case to use "salt-losing tubulopathy" instead of "Bartter/Gitelman syndrome".

Pediatr Int 2020 Apr;62(4):427

Department of Pediatric Nephrology, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1111/ped.14187DOI Listing

[Progress of research on the role of CLCNKB gene in classical Bartter syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 May;37(5):573-577

Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu 210000, China.

Bartter syndrome is an inherited metabolic disorder characterized by hypokalemic alkalosis and high rennin-angiotensin-aldosteronism which can occur at all ages but mainly in childhood. Classical Bartter syndrome is caused by loss-of-function variants in the gene encoding basolateral chloride channel ClC-Kb (CLCNKB), which is a common type of Bartter syndrome characterized with diverse clinical manifestations ranging from severe to very mild. This article reviews the function and mechanism of CLCNKB variants in Chinese population and the genotype-phenotype correlation of CLCNKB variants in classical Bartter syndrome. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.05.020DOI Listing

The first decade of Kidney International: treasure hunt for the kidney tubule.

Authors:
Olivier Devuyst

Kidney Int 2020 May;97(5):818-822

Department of Physiology, Mechanisms of Inherited Kidney Disorders Group, University of Zurich, Zurich, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2020.02.015DOI Listing

Anaesthetic management for hiatal hernia repair in a child with Bartter's syndrome: A case report.

J Pak Med Assoc 2020 Apr;70(4):737-739

Department of Anaesthesiology, Aga Khan University, Karachi, Pakistan.

Bartter syndrome is a rare disorder characterized by reduced sodium chloride transport in the distal nephrons of the kidney. Its clinical features are renal salt wasting, hypokalemic metabolic alkalosis, elevated renin and aldosterone levels with normal or low blood pressure, polyuria, hypercalciuria and malnutrition. The pathophysiologic and biochemical changes in these patients should be kept in mind when considering anaesthetic management. Read More

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http://dx.doi.org/10.5455/JPMA.302642254DOI Listing

Functional Study of Novel Bartter's Syndrome Mutations in ClC-Kb and Rescue by the Accessory Subunit Barttin Toward Personalized Medicine.

Front Pharmacol 2020 17;11:327. Epub 2020 Mar 17.

Department of Pharmacy-Drug Sciences, University of Bari "Aldo Moro", Bari, Italy.

Type III and IV Bartter syndromes (BS) are rare kidney tubulopathies caused by loss-of-function mutations in the and genes coding respectively for the ClC-Kb chloride channels and accessory subunit barttin. ClC-K channels are expressed in the Henle's loop, distal convoluted tubule, and cortical collecting ducts of the kidney and contribute to chloride absorption and urine concentration. In our Italian cohort, we identified two new mutations in , G167V and G289R, in children affected by BS and previously reported genetic variants, A242E, a chimeric gene and the deletion of the whole . Read More

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http://dx.doi.org/10.3389/fphar.2020.00327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7092721PMC

Complementary computational and experimental evaluation of missense variants in the ROMK potassium channel.

PLoS Comput Biol 2020 04 6;16(4):e1007749. Epub 2020 Apr 6.

Department of Biological Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.

The renal outer medullary potassium (ROMK) channel is essential for potassium transport in the kidney, and its dysfunction is associated with a salt-wasting disorder known as Bartter syndrome. Despite its physiological significance, we lack a mechanistic understanding of the molecular defects in ROMK underlying most Bartter syndrome-associated mutations. To this end, we employed a ROMK-dependent yeast growth assay and tested single amino acid variants selected by a series of computational tools representative of different approaches to predict each variants' pathogenicity. Read More

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http://dx.doi.org/10.1371/journal.pcbi.1007749DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7162551PMC

Inherited Tubulopathies of the Kidney: Insights from Genetics.

Clin J Am Soc Nephrol 2020 Apr 1. Epub 2020 Apr 1.

Department of Renal Medicine, University College London, London, United Kingdom; and

The kidney tubules provide homeostasis by maintaining the external milieu that is critical for proper cellular function. Without homeostasis, there would be no heartbeat, no muscle movement, no thought, sensation, or emotion. The task is achieved by an orchestra of proteins, directly or indirectly involved in the tubular transport of water and solutes. Read More

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http://dx.doi.org/10.2215/CJN.14481119DOI Listing

Etiological Profile of Nephrocalcinosis in Children from Southern India.

Indian Pediatr 2020 May 12;57(5):415-419. Epub 2020 Mar 12.

Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.

Objective: To study the etiological profile and patterns of clinical presentation of nephrocalcinosis.

Methods: In this observational study, patients 18 years or younger, referred to the pediatric nephrology clinic with nephrocalcinosis were evaluated for etiology. Symptoms/signs at presentation, estimated glomerular filtration rate (eGFR) at presentation and follow-up, and growth parameters were recorded. Read More

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[Secondary hyperaldosteronism and medullary nephrocalcinosis caused by self-administered and uncontrolled laxative use in an adolescent patient].

Probl Endokrinol (Mosk) 2019 12 25;65(4):263-267. Epub 2019 Dec 25.

Arkhangelsk Children's Clinical Hospital named after P.G. Vyzhletsov.

Secondary hyperaldosteronism is respondent aldosterone secretion increase, occurring due to some diseases or drug use. It may be accompanied by normal arterial pressure with/without water retention or arterial hypertension without water retention. Secondary hyperaldosteronism without arterial hypertension and without water retention is usually caused by the use of laxative and diuretic drugs. Read More

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http://dx.doi.org/10.14341/probl9946DOI Listing
December 2019

Isolated nephrocalcinosis due to compound heterozygous mutations in renal outer medullary potassium channel.

CEN Case Rep 2020 Aug 17;9(3):232-236. Epub 2020 Mar 17.

Division of Nephrology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, 110029, India.

Identification of a monogenic etiology is possible in a proportion of patients with childhood-onset nephrolithiasis or nephrocalcinosis. Bartter syndrome (BS), a hereditary tubulopathy characterized by polyuria, hypokalemic alkalosis and growth retardation that rarely presents with isolated nephrocalcinosis. Patients with defect in renal outer medullary potassium channel, encoded by the KCNJ1 gene causing BS type 2, typically present during the neonatal period. Read More

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http://dx.doi.org/10.1007/s13730-020-00464-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7320131PMC

DHHC7-mediated palmitoylation of the accessory protein barttin critically regulates the functions of ClC-K chloride channels.

J Biol Chem 2020 May 17;295(18):5970-5983. Epub 2020 Mar 17.

Department of Cellular Neurophysiology, Hannover Medical School, 30625 Hannover, Germany

Barttin is the accessory subunit of the human ClC-K chloride channels, which are expressed in both the kidney and inner ear. Barttin promotes trafficking of the complex it forms with ClC-K to the plasma membrane and is involved in activating this channel. Barttin undergoes post-translational palmitoylation that is essential for its functions, but the enzyme(s) catalyzing this post-translational modification is unknown. Read More

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http://dx.doi.org/10.1074/jbc.RA119.011049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196637PMC
May 2020
4.573 Impact Factor

Splicing Characterization of Variants in Four Patients With Type III Bartter Syndrome.

Front Genet 2020 21;11:81. Epub 2020 Feb 21.

Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.

Objective: Type III Bartter syndrome (BS) is caused by loss-of-function mutations in the gene encoding basolateral chloride channel ClC-Kb (), and is characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism. Here, we investigated the molecular defects in four Chinese children with clinical manifestations of Bartter syndrome.

Methods: The genomic DNA of the four patients was screened for gene variations using whole-exome sequencing (WES). Read More

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http://dx.doi.org/10.3389/fgene.2020.00081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7047732PMC
February 2020

Recent insights into sodium and potassium handling by the aldosterone-sensitive distal nephron: implications on pathophysiology and drug discovery.

J Nephrol 2020 Jun 14;33(3):447-466. Epub 2020 Feb 14.

UO Nefrologia, Azienda Ospedaliero-Universitaria Di Parma, Parma, Italy.

As our understanding of the physiology of the aldosterone-sensitive distal nephron (ASDN) advanced in light of novel acquisitions, mainly pertaining the regulation of key ion channels and transporters by with-no-lysine kinases, the pathophysiology of a variety of conditions affecting this segment of the nephron was partly or fully elucidated as well. The pathophysiology of tubulopathies affecting the ASDN or strictly related nephron segments, and disorders causing aldosteronism, pseudoaldosteronism and pseudohypoaldosteronism are here reviewed. The clinical features, with a strong emphasis on pathophysiology, of a variety of disorders are discussed, including: Liddle, Gordon (and calcineurin inhibitor-related hypertension), and Geller syndrome; apparent mineralocorticoid excess; Bartter and Gitelman syndromes; primary aldosteronism, including familial forms; generalized glucocorticoid resistance (Chrousos syndrome). Read More

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http://dx.doi.org/10.1007/s40620-020-00700-9DOI Listing

Colistin-induced acquired Bartter-like syndrome: an unusual cause of meltdown.

BMJ Case Rep 2020 Feb 5;13(2). Epub 2020 Feb 5.

Medicine, All India Institute of Medical Sciences, New Delhi, India.

Colistin-induced nephrotoxicity is commonly associated with elevation of serum creatinine level or a reduction of urine output. Uncommonly, tubulopathy associated with colistin has been reported. Here we present a unique case of a 46-year-old man who developed polyuria, hypokalaemia, hypocalcaemia, hypomagnesemia and metabolic alkalosis after 3 days of therapy with intravenous colistimethate sodium. Read More

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http://dx.doi.org/10.1136/bcr-2019-232630DOI Listing
February 2020

Global knockout of ROMK potassium channel worsens cardiac ischemia-reperfusion injury but cardiomyocyte-specific knockout does not: Implications for the identity of mitoKATP.

J Mol Cell Cardiol 2020 02 29;139:176-189. Epub 2020 Jan 29.

Division of Cardiology, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:

The renal-outer-medullary‑potassium (ROMK) channel, mutated in Bartter's syndrome, regulates ion exchange in kidney, but its extra-renal functions remain unknown. Additionally, ROMK was postulated to be the pore-forming subunit of the mitochondrial ATP-sensitive K channel (mitoK), a mediator of cardioprotection. Using global and cardiomyocyte-specific knockout mice (ROMK-GKO and ROMK-CKO respectively), we characterize the effects of ROMK knockout on mitochondrial ion handling, the response to pharmacological K channel modulators, and ischemia/reperfusion (I/R) injury. Read More

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http://dx.doi.org/10.1016/j.yjmcc.2020.01.010DOI Listing
February 2020

Gentamicin Induced Bartter Like Syndrome.

Authors:
Ranitha Gopi

J Assoc Physicians India 2020 Jan;68(1):75

Kasturba Hospital Manipal.

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January 2020

Hot Summer Shines Light on Diagnosis of Pseudo-Bartter Syndrome.

Indian J Pediatr 2020 Jun 20;87(6):473. Epub 2019 Dec 20.

Department of Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences (SGPGI), Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1007/s12098-019-03136-7DOI Listing

The Urinary Excretion of Uromodulin is Regulated by the Potassium Channel ROMK.

Sci Rep 2019 12 20;9(1):19517. Epub 2019 Dec 20.

Institute of Physiology, University of Zurich, Zurich, Switzerland.

Uromodulin, the most abundant protein in normal urine, is produced by cells lining the thick ascending limb (TAL) of the loop of Henle. Uromodulin regulates the activity of the potassium channel ROMK in TAL cells. Common variants in KCNJ1, the gene encoding ROMK, are associated with urinary levels of uromodulin in population studies. Read More

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http://dx.doi.org/10.1038/s41598-019-55771-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925250PMC
December 2019

Bartter syndrome: An infrequent tubulopathy of prenatal onset.

Rev Chil Pediatr 2019 Aug;90(4):437-442

Unidad de Gestión Clínica del Niño, Hospital Padre Hurtado, Chile.

Introduction: Bartter syndrome (BS) is a rare inherited tubulopathy that has two presentation forms, the first one is a severe form of antenatal onset (neonatal Bartter) and the second one is a later on set form during the first years of life (classic Bartter). In the antenatal form, it manifests with fetal polyuria, polyhydramnios of early and severe onset, premature delivery, and intrauterine growth restriction. In the postnatal stage, it presents recurrent episodes of dehydration and electrolyte im balance that can compromise the survival of the patient. Read More

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http://dx.doi.org/10.32641/rchped.v90i4.932DOI Listing

Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3.

Endocrine 2020 Apr 13;68(1):192-202. Epub 2019 Dec 13.

Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, No. 5 Donghai Middle Road, Qingdao, 266071, PR China.

Purpose: Analyze the genotype of 42 Chinese patients with Bartter syndrome type 3 (BS3) and investigate their correlation between genotype and phenotype.

Methods: Identify CLCNKB gene variants by the next-generation sequencing and the multiplex ligation-dependent probe amplification (MLPA), and then evaluate their mutation effects according to 2015 American College of Medical Genetics and Genomics (ACMG) standards and guidelines.

Results: Thirty-six different variants in CLCNKB gene, including 13 novel ones, were found. Read More

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http://dx.doi.org/10.1007/s12020-019-02156-9DOI Listing

Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathy.

Pediatr Int 2020 Apr 13;62(4):428-437. Epub 2020 Apr 13.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

Bartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characterized by hypokalemia and metabolic alkalosis. Clinically, BS is classified into two types: the severe antenatal/neonatal type, which develops during the fetal period with polyhydramnios and preterm delivery; and the relatively mild classic type, which is usually found during infancy with failure to thrive. GS can be clinically differentiated from BS by its age at onset, usually after school age, or laboratory findings of hypomagnesemia and hypocalciuria. Read More

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http://dx.doi.org/10.1111/ped.14089DOI Listing

Adjunctive acetazolamide therapy for the treatment of Bartter syndrome.

Int Urol Nephrol 2020 Jan 9;52(1):121-128. Epub 2019 Dec 9.

Department of Pediatrics, Division of Nephrology, Zahedan University of Medical Sciences, Zahedan, Iran.

Purpose: Bartter syndrome is a rare hereditary salt-losing tubulopathy caused by mutations of several genes in the thick ascending limb of Henle's loop, characterized by polyuria, hypokalemic metabolic alkalosis, growth retardation and normal blood pressure. Cyclooxygenase inhibitors, potassium-sparing diuretics and angiotensin-converting enzyme inhibitors are currently used to treat electrolyte derangements, but with poor response. Whether treatment with acetazolamide, a carbonic-anhydrase inhibitor, would result in better clinical outcomes is unknown. Read More

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http://dx.doi.org/10.1007/s11255-019-02351-7DOI Listing
January 2020

Analysis of CLCNKB mutations at dimer-interface, calcium-binding site, and pore reveals a variety of functional alterations in ClC-Kb channel leading to Bartter syndrome.

Hum Mutat 2020 Apr 24;41(4):774-785. Epub 2019 Dec 24.

Institut NeuroMyoGène, Univ Lyon, Université Claude Bernard Lyon 1, Lyon, France.

Pathological missense mutations in CLCNKB gene give a wide spectrum of clinical phenotypes in Bartter syndrome type III patients. Molecular analysis of the mutated ClC-Kb channels can be helpful to classify the mutations according to their functional alteration. We investigated the functional consequences of nine mutations in the CLCNKB gene causing Bartter syndrome. Read More

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http://dx.doi.org/10.1002/humu.23962DOI Listing

Cystic fibrosis in Turkey: First data from the national registry.

Pediatr Pulmonol 2020 02 11;55(2):541-548. Epub 2019 Nov 11.

Division of Pediatric Pulmonology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

Background: Cystic fibrosis (CF) care has been implemented in Turkey for a long time; however, there had been no patient registry. For this purpose, the Turkish National CF Registry was established. We present the first results of registry using data collected in 2017. Read More

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http://dx.doi.org/10.1002/ppul.24561DOI Listing
February 2020

Hypokalemia and hearing loss in a 3-year-old boy: Questions.

Pediatr Nephrol 2020 Apr 30;35(4):615. Epub 2019 Oct 30.

Department of Pediatric Nephrology, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, University of Health Sciences, Ankara, Turkey.

Bartter syndrome with sensorineural deafness (Bartter syndrome type 4) is an autosomal recessive disorder characterized with polyhydramniosis, premature birth, massive polyuria, renal salt-wasting, hypokalemic metabolic alkalosis, normotensive hyperreninemic hyperaldosteronism, and hearing loss. Homozygous mutations in BSND, CLCNKA, and CLCNKB mutations cause the disorder. Here we report a 3-year-old boy who had not been evaluated and investigated before cochlear implantation. Read More

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http://dx.doi.org/10.1007/s00467-019-04379-4DOI Listing
April 2020
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Bartter and Gitelman syndromes: Questions of class.

Pediatr Nephrol 2019 Oct 29. Epub 2019 Oct 29.

Renal Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

Bartter and Gitelman syndromes are rare inherited tubulopathies characterized by hypokalaemic, hypochloraemic metabolic alkalosis. They are caused by mutations in at least 7 genes involved in the reabsorption of sodium in the thick ascending limb (TAL) of the loop of Henle and/or the distal convoluted tubule (DCT). Different subtypes can be distinguished and various classifications have been proposed based on clinical symptoms and/or the underlying genetic cause. Read More

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http://dx.doi.org/10.1007/s00467-019-04371-yDOI Listing
October 2019
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Bartter syndrome type III with only a synonymous mutation of the gene
.

Clin Nephrol 2019 Dec;92(6):325-328

Bartter syndrome (BS), a rare autosomal recessive disorder affecting renal tubular potassium handling, is characterized by hypokalemia, metabolic alkalosis, and renal salt wasting. In this report, we describe an adult patient with longstanding clinical symptoms of fatigue, polyuria, polydipsia, mental retardation, and physical dysplasia along with hypokalemia and metabolic alkalosis as laboratory findings. With these clinical symptoms, a patient can be diagnosed with BS type III. Read More

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http://dx.doi.org/10.5414/CN109784DOI Listing
December 2019
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Severe edema after cessation of laxative abuse and use of a loop diuretic: Case report.

Int J Eat Disord 2020 01 15;53(1):149-151. Epub 2019 Oct 15.

Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.

Stimulant laxatives are the class of laxatives most often abused by patients with eating disorders. The abrupt cessation of high-dose stimulant laxatives is known to cause edema. We present the case of a patient with anorexia nervosa with binge-purge subtype who was taking ∼100 stimulant laxatives per day. Read More

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http://dx.doi.org/10.1002/eat.23186DOI Listing
January 2020
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Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in .

Indian J Nephrol 2019 Sep-Oct;29(5):360-363

Department of Pediatric Nephrology and Rheumatology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.

Antenatal Bartter syndrome (BS) is an autosomal recessive hereditary renal tubular disorder caused by mutation in the () on chromosome 15q21.1. This syndrome is characterized by polyuria, hyponatremia, hypokalemic hypochloremic metabolic alkalosis, and hypercalciuria associated with increased urinary loss of electrolytes. Read More

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http://dx.doi.org/10.4103/ijn.IJN_175_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6755923PMC
October 2019
2 Reads

Gitelmans Syndrome- A Rare Cause of Recurrent Syncope.

J Assoc Physicians India 2019 Sep;67(9):92-93

Resident Cardiology, Mount Sinai Hospital, New york, United States.

Gitelman's syndrome, or congenital hypokalemic hypomagnesemic hypocalciuria with metabolic alkalosis, is widely described as a benign or milder variant of Barter's syndrome. It presents with variable clinical symptoms including tetanic episodes, muscle cramps, muscle paralysis, tingling numbness, perioral tingling sensation, salt craving and nocturia. This milder salt wasting syndrome can rarely cause significant ventricular arrhythmias and even death. Read More

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September 2019
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Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan.

J Pediatr 2019 11 30;214:151-157.e6. Epub 2019 Aug 30.

Department of Medical Biochemistry, Kurume University School of Medicine, Kurume, Japan.

Objective: To clarify clinical and genetic features of Japanese children with congenital chloride diarrhea (CCD).

Study Design: This was a multi-institutional, retrospective survey of 616 pediatric centers in Japan with identified patients with CCD between 2014 and 2018. Mutations involving SLC26A3 were detected by Sanger sequencing. Read More

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http://dx.doi.org/10.1016/j.jpeds.2019.07.039DOI Listing
November 2019
6 Reads

A novel compound heterozygous KCNJ1 gene mutation presenting as late-onset Bartter syndrome: Case report.

Medicine (Baltimore) 2019 Aug;98(34):e16738

Department of Endocrinology, The First Affiliated Hospital, Tsinghua University.

Rationale: Bartter syndrome is an autosomal-recessive inherited disease in which patients present with hypokalemia and metabolic alkalosis. We present 1 case with Bartter syndrome, due to a novel compound heterozygous mutation in the KCNJ1 gene encoding the ATP-sensitive inward rectifier potassium channel in the thick ascending limb of the loop of Henle.

Patient Concerns: A patient was admitted to our hospital because of weakness, polyuria, and polydipsia. Read More

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http://Insights.ovid.com/crossref?an=00005792-201908230-0001
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http://dx.doi.org/10.1097/MD.0000000000016738DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6716717PMC
August 2019
3 Reads

A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report.

BMC Med Genet 2019 08 13;20(1):137. Epub 2019 Aug 13.

Department of Pediatrics, The First Hospital of China Medical University, No. 155 Nanjing North Street, Heping District, Shenyang, 110001, Liaoning Province, People's Republic of China.

Background: Bartter syndrome (BS) is a rare autosomal recessive disorder of salt reabsorption at the thick ascending limb of the Henle loop, characterized by hypokalemia, salt loss, metabolic alkalosis, hyperreninemic hyperaldosteronism with normal blood pressure. BS type III, often known as classic BS (CBS), is caused by loss-of-function mutations in CLCNKB (chloride voltage-gated channel Kb) encoding basolateral ClC-Kb.

Case Presentation: We reported a 15-year-old CBS patient with a compound heterozygous mutation of CLCNKB gene. Read More

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http://dx.doi.org/10.1186/s12881-019-0869-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693093PMC
August 2019
6 Reads
2.083 Impact Factor

Tacrolimus ameliorates the phenotypes of type 4 Bartter syndrome model mice through activation of sodium-potassium-2 chloride cotransporter and sodium-chloride cotransporter.

Biochem Biophys Res Commun 2019 09 27;517(2):364-368. Epub 2019 Jul 27.

Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo, Tokyo, 113-8519, Japan.

Type 4 Bartter syndrome (BS) is caused by genetic mutations in barttin, which is coded for by BSND. Barttin serves as the β-subunit of the ClC-K chloride (Cl) channel, which is widely expressed in distal nephrons. Type 4 BS is characterized by severely impaired reabsorption of salt, which may cause polyuria, hypokalemia, and metabolic alkalosis. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0006291X193144
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http://dx.doi.org/10.1016/j.bbrc.2019.07.086DOI Listing
September 2019
2 Reads

Should isolated Pseudo-Bartter syndrome be considered a CFTR-related disorder of infancy?

Pediatr Pulmonol 2019 10 21;54(10):1578-1583. Epub 2019 Jul 21.

Department of Pediatrics, Regional support Centre for Cystic Fibrosis, Children's Hospital - ASST Spedali Civili, University of Brescia, Brescia, Italy.

Background: Infants that are negative to cystic fibrosis (CF) newborn screening (NBS) programs, or in countries without NBS, may present with metabolic alkalosis and severe salt depletion, a well-known clinical manifestation of CF termed Pseudo-Bartter syndrome (PBS). Here, we report the cases of three CF-negative children, who carry rare mutations in the CF transmembrane conductance regulator (CFTR) gene, and, for whom, PBS was the only manifestation of CFTR protein dysfunction. There is no diagnostic label for these cases. Read More

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http://dx.doi.org/10.1002/ppul.24433DOI Listing
October 2019
4 Reads

The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis.

Eur J Med Genet 2019 Oct 17;62(10):103728. Epub 2019 Jul 17.

Department of Pediatrics B, Emek Medical Center, Afula, Israel; Genetic Institute, Emek Medical Center, Afula, Israel; Rappaport School of Medicine, Technion, Haifa, Israel. Electronic address:

Persistent hypokalemic hypochloremic metabolic alkalosis represents a heterogeneous group of genetic disorders of which the most common is Bartter syndrome (BS). BS is an inherited renal tubulopathy caused by defective salt reabsorption in the thick ascending loop of Henle, which results in persistent hypokalemic hypochloremic metabolic alkalosis. Here we report a 10-year-old girl of a consanguineous family. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.103728DOI Listing
October 2019
7 Reads