1,881 results match your criteria Bartter Syndrome

Correcting hypokalaemia in a paediatric patient with Bartter syndrome through oral dose of potassium chloride intravenous solution.

SAGE Open Med Case Rep 2021 30;9:2050313X211019789. Epub 2021 May 30.

Al Adan Paediatric Pharmacy, Kuwait-Al Adan Joint Hospital, Kuwait Hospital, Sabah Al Salem, Kuwait.

Bartter syndrome is a rare autosomal recessive disorder characterized by hypokalaemia. Hypokalaemia is defined as low serum potassium concentration ˂3.5 mmol/L, which may lead to arrhythmia and death if left untreated. Read More

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Antenatal Indomethacin Use Altering the Initial Presentation of Type 4A Bartter Syndrome.

Indian J Pediatr 2021 Jun 7. Epub 2021 Jun 7.

Department of Medical Genetics, Fernandez Foundation, Hyderabad, Telangana, India.

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Cystic fibrosis in the kidney: new lessons from impaired renal HCO3- excretion.

Curr Opin Nephrol Hypertens 2021 Jul;30(4):437-443

Department of Biomedicine, Physiology, Health, Aarhus University, Aarhus, Denmark.

Purpose Of Review: A key role of cystic fibrosis transmembrane conductance regulator (CFTR) in the kidney has recently been uncovered. This needs to be integrated into the understanding of the developed phenotypes in cystic fibrosis (CF) patients.

Recent Findings: In the beta-intercalated cells of the collecting duct , CFTR functions in very similar terms as established in the exocrine pancreatic duct and both CFTR and SLC26A4 (pendrin) orchestrate regulated HCO3- secretion. Read More

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ACE2 and SARS-CoV-2 Infection Risk: Insights From Patients With Two Rare Genetic Tubulopathies, Gitelman's and Bartter's Syndromes.

Front Med (Lausanne) 2021 4;8:647319. Epub 2021 May 4.

Department of Nutrition, University of California, Davis, Davis, CA, United States.

COVID-19 is spreading globally with the angiotensin converting enzyme (ACE)-2 serving as the entry point of SARS-CoV-2 virus. This raised concerns how ACE2 and the Renin-Angiotensin (Ang)-System (RAS) are to be dealt with given their roles in hypertension and their involvement in COVID-19's morbidity and mortality. Specifically, increased ACE2 expression in response to treatment with ACE inhibitors (ACEi) and Ang II receptor blockers (ARBs) might theoretically increase COVID-19 risk by increasing SARS-CoV-2 binding sites. Read More

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Diagnosis and outpatient management of Gitelman syndrome from the first trimester of pregnancy.

BMJ Case Rep 2021 May 12;14(5). Epub 2021 May 12.

Emergency Admission Unit, Colchester General Hospital, Colchester, UK.

A 32-year-old woman presented with an incidental finding of hypokalaemia on routine bloods at 9 weeks of a second pregnancy, on a background of lifelong salt craving. Her previous pregnancy was uncomplicated. She had no previous significant medical or family history. Read More

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New insights into the role of endoplasmic reticulum-associated degradation in Bartter Syndrome Type 1.

Hum Mutat 2021 May 11. Epub 2021 May 11.

Centre de Recherche des Cordeliers, Sorbonne Université, Inserm, Université de Paris, Paris, France.

Mutations in Na-K-2Cl co-transporter, NKCC2, lead to type I Bartter syndrome (BS1), a life-threatening kidney disease. Yet, our knowledge of the molecular regulation of NKCC2 mutants remains poor. Here, we aimed to identify the molecular pathogenic mechanisms of one novel and three previously reported missense NKCC2 mutations. Read More

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Type 3 antenatal Bartter syndrome presenting with mild polyuria.

BMJ Case Rep 2021 Apr 7;14(4). Epub 2021 Apr 7.

Department of Pediatrics, Dokkyo Medical University, Shimotsuga-gun, Tochigi, Japan.

Bartter syndrome (BS) is a well-recognised inherited tubular dysfunction that causes polyuria, metabolic alkalosis and hypokalaemia. Among BS cases, antenatal/neonatal BS (ABS) usually shows distinct polyhydramnios prenatally and presents features of BS in the early neonatal period. We encountered a premature infant with type 3 ABS presenting with mild polyuria and discuss the pathogenesis of mild polyuria in type 3 ABS. Read More

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Pseudo-Bartter Syndrome and Intermediate Sweat Chloride Levels-It Could Still be Cystic Fibrosis!

Indian J Pediatr 2021 06 7;88(6):600. Epub 2021 Apr 7.

Department of Pediatrics, Christian Medical College, Vellore, 632004, Tamil Nadu, India.

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A Rare Cause of Refractory Severe Polyhydramnios: Antenatal Bartter Syndrome.

Medicina (Kaunas) 2021 Mar 16;57(3). Epub 2021 Mar 16.

Department of Obstetrics and Gynecology, Ewha Womans University School of Medicine, Seoul 07804, Korea.

: Antenatal Bartter syndrome is an autosomal recessive disorder causing severe polyuria that leads to severe polyhydramnios and preterm labor. Prenatal diagnosis of antenatal Bartter syndrome is difficult because the genetic diagnosis can only be confirmed following a clinical diagnosis in infants. Reports of prenatal diagnosis and treatment of antenatal Bartter syndrome are limited. Read More

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Simultaneous Homozygous Mutations in and in an Inbred Chinese Pedigree.

Genes (Basel) 2021 Mar 5;12(3). Epub 2021 Mar 5.

Department of Nephrology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Long-quan Branch, Longquan 323716, China.

Gitelman syndrome (GS) and Bartter syndrome (BS) type III are both rare, recessively inherited salt-losing tubulopathies caused by and mutations, respectively. We described a 48-year-old male patient with fatigue, carpopedal spasm, arthralgia, hypokalemic alkalosis, mild renal dysfunction, hypomagnesemia, hypocalciuria, hyperuricemia, normotension, hyperreninemia and chondrocalcinosis in knees and Achilles tendons. His parents are first cousin. Read More

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Pathophysiological aspects of the thick ascending limb and novel genetic defects: HELIX syndrome and transient antenatal Bartter syndrome.

Pediatr Nephrol 2021 Mar 17. Epub 2021 Mar 17.

Department of Molecular Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges-Pompidou, 20-40 rue Leblanc, 75015, Paris, France.

The thick ascending limb plays a central role in human kidney physiology, participating in sodium reabsorption, urine concentrating mechanisms, calcium and magnesium homeostasis, bicarbonate and ammonium homeostasis, and uromodulin synthesis. This review aims to illustrate the importance of these roles from a pathophysiological point of view by describing the interactions of the key proteins of this segment and by discussing how recently identified and long-known hereditary diseases affect this segment. The descriptions of two recently described salt-losing tubulopathies, transient antenatal Bartter syndrome and HELIX syndrome, which are caused by mutations in MAGED2 and CLDN10 genes, respectively, highlight the role of new players in the modulation of sodium reabsorption the thick ascending limb. Read More

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Patient with Bartter syndrome in whom chronic potassium depletion was considered one of the causes of hyponatremia.

BMJ Case Rep 2021 Mar 10;14(3). Epub 2021 Mar 10.

Department of Internal Medicine, Shitennoji Hospital, Osaka, Japan

A 53-year-old man was admitted to our hospital because of general fatigue and disorientation. He had been diagnosed with Bartter syndrome in his teens and had been taking potassium preparations since then. However, his serum potassium concentration (K) remained persistently low. Read More

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Differential Effects of STCH and Stress-Inducible Hsp70 on the Stability and Maturation of NKCC2.

Int J Mol Sci 2021 Feb 23;22(4). Epub 2021 Feb 23.

Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, USPC, Université Paris Descartes, Université Paris Diderot, 75006 Paris, France.

Mutations in the Na-K-2Cl co-transporter NKCC2 lead to type I Bartter syndrome, a life-threatening kidney disease. We previously showed that export from the ER constitutes the limiting step in NKCC2 maturation and cell surface expression. Yet, the molecular mechanisms involved in this process remain obscure. Read More

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February 2021

Hypokalemic metabolic alkalosis in an adolescent female: Answers.

Pediatr Nephrol 2021 Jul 23;36(7):2119-2121. Epub 2021 Feb 23.

Department of Pediatric Nephrology, Ankara City Hospital, Ankara Yıldırım Beyazıt University, Ankara, Turkey.

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Generation of an induced pluripotent stem cell line from a Bartter syndrome patient with the homozygote mutation p.A244D (c.731C>A) in SLC12A1 gene.

Stem Cell Res 2021 Apr 10;52:102228. Epub 2021 Feb 10.

Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China. Electronic address:

Bartter Syndrome (BS) is a group of rare inherited autosome-recessive disease, which can be caused by the gene mutations of sodium-potassium-chloride cotransporter gene (SLC12A1). Here, the urine cells (UCs) derived from a 4-year-old female BS patient with the homozygote SLC12A1 gene mutation p.A244D (c. Read More

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Type-5 Bartter syndrome presenting with metabolic seizure in adulthood.

BMJ Case Rep 2021 Feb 17;14(2). Epub 2021 Feb 17.

Pulmonary Medicine, All India Institute of Medical Science-Bhopal, Bhopal, Madhya Pradesh, India.

Bartter syndrome is a very rare and heterogeneous disease with variable age of onset and symptom severity. Genotypically they have inherited disorders of the thick ascending limb in the renal tubular system, which manifest phenotypically as electrolyte imbalance due to loss of sodium, chloride and potassium. Gain of function mutations in the calcium-sensing receptor has been described in some patients with Bartter's syndrome (type-5 Bartter syndrome or autosomal dominant hypocalcaemia with Bartter syndrome) associated with hypocalcaemia and hypercalciuria differentiating it from Gitelman syndrome. Read More

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February 2021

An Unusual Case of Neurosyphilis Manifesting as Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH).

Am J Case Rep 2021 Feb 16;22:e929050. Epub 2021 Feb 16.

Department of Hospital Medicine, University of Massachusetts Medical School, Worcester, MA, USA.

BACKGROUND Syphilis has increased in prevalence in the United States by 72.7% from 2013 to 2017, with the highest rates recorded in men who have sex with men. There is an increased incidence of syphilis in patients with a concomitant HIV infection, estimated at a 77-fold increase. Read More

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February 2021

Differential diagnosis of perinatal Bartter, Bartter and Gitelman syndromes.

Clin Kidney J 2021 Jan 25;14(1):36-48. Epub 2020 Oct 25.

Department of Pediatrics, Kings County Hospital, Brooklyn, NY, USA.

The common finding of hypokalemic alkalosis in several unrelated disorders may confound the early diagnosis of salt-losing tubulopathy (SLT). Antenatal Bartter syndrome (BS) must be considered in idiopathic early-onset polyhydramnios. Fetal megabladder in BS may allow its distinction from third-trimester polyhydramnios that occurs in congenital chloride diarrhea (CCD). Read More

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January 2021

Rare diseases caused by abnormal calcium sensing and signalling.

Endocrine 2021 Mar 2;71(3):611-617. Epub 2021 Feb 2.

Department of Internal Medicine and Oncology, Semmelweis University, Budapest, Hungary.

The calcium-sensing receptor (CaSR) provides the major mechanism for the detection of extracellular calcium concentration in several cell types, via the induction of G-protein-coupled signalling. Accordingly, CaSR plays a pivotal role in calcium homeostasis, and the CaSR gene defects are related to diseases characterized by serum calcium level changes. Activating mutations of the CaSR gene cause enhanced sensitivity to extracellular calcium concentration resulting in autosomal dominant hypocalcemia or Bartter-syndrome type V. Read More

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Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders.

Kidney Int 2021 02;99(2):324-335

Department of Renal Medicine, University College London, London, United Kingdom; Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

Bartter syndrome is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemic and hypochloremic metabolic alkalosis and low to normal blood pressure. The primary pathogenic mechanism is defective salt reabsorption predominantly in the thick ascending limb of the loop of Henle. There is significant variability in the clinical expression of the disease, which is genetically heterogenous with 5 different genes described to date. Read More

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February 2021

Bartter-Like Renal Phenotype in a Child with Donnai-Barrow Syndrome.

Indian J Pediatr 2021 04 6;88(4):390. Epub 2021 Jan 6.

Division of Genetics & Metabolism, Department of Pediatrics, Lok Nayak Hospital and Maulana Azad Medical College, New Delhi, India.

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Far di Necessità Virtù, using rare tubulopathies, Gitelman's and Bartter's syndromes, to inform the fight against COVID-19.

J Nephrol 2021 04 2;34(2):281-283. Epub 2021 Jan 2.

Department of Nutrition, University of California, Davis, USA.

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A neonate with intrauterine growth restriction and pseudo-Bartter syndrome due to severe maternal eating disorder: A case report.

Clin Case Rep 2020 Dec 6;8(12):2541-2544. Epub 2020 Aug 6.

2nd Department of Neonatology and NICU Aristotle University of Thessaloniki "Papageorgiou" Hospital Thessaloniki Greece.

Maternal diet before and during pregnancy plays an important role for the developing fetus. Any eating disorder in this period can cause transient or/and permanent negative effects on the mother and her offspring. Read More

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December 2020

Prenatal biochemical diagnosis of two forms of congenital diarrheal disorders (congenital chloride diarrhea and congenital sodium diarrhea): A series of 12 cases.

Prenat Diagn 2021 Mar 3;41(4):434-439. Epub 2021 Jan 3.

Unité de Biochimie Prénatale, Laboratoire de Biochimie-Hormonologie, Hôpital Robert Debré, AP-HP, Paris, France.

Objective: Congenital diarrheal disorders (CDDs) are a group of rare diseases among which some present as inherited disorders of intestinal electrolyte transportation: congenital chloride diarrhea (CCD) and congenital sodium diarrhea (CSD) with prenatal manifestations, mainly polyhydramnios, leading to premature delivery. Affected neonates present with watery stools, sometimes mistaken as urine, leading to a misdiagnosis of Bartter syndrome. The aim of this study was to study the value of a prenatal biochemical pattern in the case of suspected CDD. Read More

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Electrolyte Replacement in Bartter Syndrome With Abnormal Small Bowel: A Case Report.

J Investig Med High Impact Case Rep 2020 Jan-Dec;8:2324709620982440

White River Health System, Batesville, AR, USA.

Bartter syndrome is a rare disorder that is characterized by weakness and fatigue with laboratory findings of hypokalemia and metabolic alkalosis with increased aldosterone and angiotensin. It specifically acts on the ascending loop of Henle, characterized by miscoded proteins affecting NaCl transports and channels. Patients will require replacement of potassium and sometimes magnesium due to the kidneys' inability to reabsorb these ions. Read More

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December 2020

Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood.

Hum Mutat 2021 Mar 31;42(3):300-309. Epub 2020 Dec 31.

Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.

Gitelman syndrome (GS), an autosomal recessive kidney disorder, is characterized by hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. Generally, diagnosis is made in school-aged children but multiple cases have been diagnosed in adulthood. This study examines the phenotypic differences between genetically confirmed cases and mutation-negative cases in adults. Read More

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Acquired Bartter Syndrome in Primary Sjögren Syndrome.

Saudi J Kidney Dis Transpl 2020 Sep-Oct;31(5):1144-1147

Department of Internal Medicine A, Charles Nicolle Hospital, Tunis, Tunisia.

Renal tubular involvement in Sjögren's syndrome (SS) often described with renal tubular acidosis, nephrogenic diabetes insipidus, or rarely with Fanconi syndrome. SS presenting with clinical features of Bartter's syndrome or Gitelman's syndrome is rare. We report a case of a female patient who presented an acquired Bartter syndrome with a primary SS. Read More

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November 2020

Dehydrated patient without clinically evident cause: A case report.

World J Clin Cases 2020 Oct;8(20):4838-4843

Department of Woman, Child and of General and Specialized Surgery, Università degli Studi della Campania "Luigi Vanvitelli", Naples 80138, Italy.

Background: Patients affected by cystic fibrosis can present with metabolic alkalosis such as Bartter's syndrome. In this case report we want to underline this differential diagnosis and we aimed focusing on the suspect of cystic fibrosis, also in case of a negative newborn screening.

Case Summary: In a hot August -with a mean environmental temperature of 36 °C- an 8-mo-old female patient presented with severe dehydration complicated by hypokalemic metabolic alkalosis, in absence of fever, diarrhea and vomiting. Read More

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October 2020

Transient Bartter-like syndrome in a child with extensively drug-resistant tuberculosis: Questions.

Pediatr Nephrol 2021 Jul 5;36(7):1973-1974. Epub 2020 Nov 5.

Department of Pediatrics, B J Wadia Hospital for Children, Parel, Mumbai, 400012, India.

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Transient Bartter-like syndrome in a child with extensively drug-resistant tuberculosis: Answers.

Pediatr Nephrol 2021 Jul 5;36(7):1975-1976. Epub 2020 Nov 5.

Department of Pediatrics, B J Wadia Hospital for Children, Parel, Mumbai, 400012, India.

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