1,944 results match your criteria Bartter Syndrome


Genetic Heterogeneity in Bartter Syndrome: Clinical and Practical Importance.

Front Pediatr 2022 3;10:908655. Epub 2022 Jun 3.

Department of Medical Genetics, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, Iasi, Romania.

Bartter syndrome (BS) is a rare tubulopathy that causes polyuria, hypokalemia, hypochloremic metabolic alkalosis, and normotensive hyperreninemic hyperaldosteronism. It is characterized by locus, clinical, and allelic heterogeneity. Types 1-4 of BS are inherited according to an autosomal recessive pattern, while type 5, which is transient, is X linked. Read More

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Clinical Course of Patients with Bartter Syndrome.

Iran J Kidney Dis 2022 May;16(3):162-170

1Intrdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Brazil.

Introduction: Bartter syndrome (BS) is a salt losing tubulopathy due to impairment of the transport mechanisms at the thick ascending limb of the Henle's loop. The aim of this study was to report the clinical course of patients with BS.

Methods: Patients with BS were followed from 1996 to 2020 and enrolled to a systematic protocol to confirm primary BS by evaluating the metabolic derangements, nephrolithiasis and nephrocalcinosis. Read More

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Colistin-induced Bartter-like Syndrome: Ponder before Treatment!

Indian J Crit Care Med 2022 Feb;26(2):239-243

Department of Nephrology, Safdarjung Hospital and Vardhman Mahavir Medical College, New Delhi, India.

Bartter-like syndrome (BLS) is a constellation of biochemical abnormalities which include metabolic alkalosis, hypokalemia, hypocalcemia, hypomagnesemia with normal kidney function. BLS is a very rare syndrome and can be induced by certain diseases, antibiotics, diuretics, and antineoplastic drugs. Colistin is a polymicrobial bactericidal drug and currently re-emerged as the only salvation therapy against multidrug resistant bacilli especially in critically ill patients at intensive care units. Read More

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February 2022

The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.

J Endocr Soc 2022 Jul 15;6(7):bvac079. Epub 2022 May 15.

Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology & Metabolism (OCDEM), Churchill Hospital, University of Oxford, Oxford OX3 7LJ, UK.

Bartter syndrome (BS) and Gitelman syndrome (GS) are renal tubular disorders affecting sodium, potassium, and chloride reabsorption. Clinical features include muscle cramps and weakness, in association with hypokalemia, hypochloremic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Hypomagnesemia and hypocalciuria are typical of GS, while juxtaglomerular hyperplasia is characteristic of BS. Read More

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Clinical and Genetic Characterization of Patients with Bartter and Gitelman Syndrome.

Int J Mol Sci 2022 May 18;23(10). Epub 2022 May 18.

Nephrology and Dialysis Unit, Meyer Children's Hospital, 50139 Florence, Italy.

Bartter (BS) and Gitelman (GS) syndrome are autosomal recessive inherited tubulopathies, whose clinical diagnosis can be challenging, due to rarity and phenotypic overlap. Genotype-phenotype correlations have important implications in defining kidney and global outcomes. The aim of our study was to assess the diagnostic rate of whole-exome sequencing (WES) coupled with a bioinformatic analysis of copy number variations in a population of 63 patients with BS and GS from a single institution, and to explore genotype-phenotype correlations. Read More

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Bartter-like syndrome induced by tacrolimus in a renal transplanted boy: A Case Report.

Curr Drug Saf 2022 May 18. Epub 2022 May 18.

Interdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Federal University of Minas Gerais (UFMG), Belo Horizonte, MG, Brazil.

Introduction/background: Losing-salt tubulopathies, such as Bartter syndrome, are rare and usually inherited due to mutations of tubular reabsorption channels of the nephrons. Despite its scarcity, some cases of acquired losing-salt tubulopathies have been described. In this case report, we discuss the main aspects of Bartter syndrome and present a rare pediatric case of probable tacrolimus-induced Bartter-like syndrome in a renal transplanted boy. Read More

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Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene.

BMC Nephrol 2022 May 12;23(1):182. Epub 2022 May 12.

Nephrology Department, Heraklion University Hospital, Voutes, 71500, Heraklion, Crete, Greece.

Background: Dent disease is an X-linked disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and chronic kidney disease (CKD). It is caused by mutations in the chloride voltage-gated channel 5 (CLCN5) gene (Dent disease-1), or in the OCRL gene (Dent disease-2). It is associated with chronic metabolic acidosis; however metabolic alkalosis has rarely been reported. Read More

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Nephrogenic Systemic Fibrosis with Osseous Metaplasia in a Kidney-Pancreas Transplant Patient.

Skinmed 2022 30;20(2):145-148. Epub 2022 Apr 30.

Department of Dermatology, Ed. Herriot Hospital, Lyon, France;

A French (Caucasian) woman with a history of nonobstructive hypertrophic cardiopathy, type 1 diabetes mellitus, cataract, and ante-hypophysary insufficiency had undergone multiple magnetic resonance imaging (MRI) studies. She had developed end-stage renal disease (ESRD) and had undergone hemodialysis for 10 years before receiving a kidney-pancreas allotransplantation at the age of 48 years. She received antithymocyte globulins as induction immunosuppression and steroids (5 mg/d), mycophenolate mofetil (2 g/d), and tacrolimus (5 mg/d) as maintenance immunosuppression. Read More

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Metabolic Alkalosis Pathogenesis, Diagnosis, and Treatment: Core Curriculum 2022.

Am J Kidney Dis 2022 May 4. Epub 2022 May 4.

Division of Nephrology, Department of Medicine, University of New Mexico Health Sciences Center, Albuquerque, New Mexico. Electronic address:

Metabolic alkalosis is a widespread acid-base disturbance, especially in hospitalized patients. It is characterized by the primary elevation of serum bicarbonate and arterial pH, along with a compensatory increase in Pco consequent to adaptive hypoventilation. The pathogenesis of metabolic alkalosis involves either a loss of fixed acid or a net accumulation of bicarbonate within the extracellular fluid. Read More

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Emergence of Chronic Lymphocytic Leukemia During Admission for COVID-19: Cause or Coincidence?

Cureus 2022 Mar 24;14(3):e23470. Epub 2022 Mar 24.

Department of Pulmonary and Critical Care Medicine, University of Arkansas for Medical Sciences, Little Rock, USA.

Chronic lymphocytic leukemia (CLL) is the most common leukemia affecting the western adult population. While CLL is known to be a risk factor for morbidity and mortality from coronavirus disease 2019 (COVID-19), COVID-19 has not been shown to be a risk factor for the development of CLL. We report a case of a 55-year-old man who presented with COVID-19 pneumonia and developed overt CLL during hospitalization. Read More

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Late-Onset Bartter Syndrome Type II Due to a Novel Compound Heterozygous Mutation in Gene: A Case Report and Literature Review.

Front Med (Lausanne) 2022 7;9:862514. Epub 2022 Apr 7.

Department of Nephrology, Shengjing Hospital of China Medical University, Shenyang, China.

Background: Bartter syndrome (BS) type II is a rare autosomal recessive renal tubular disorder caused by mutations in the gene, which encodes the apical renal outer medullary potassium (ROMK) channel in the thick ascending limb (TAL) of Henle's loop. BS type II is typically considered as a disorder of infancy and seldom seen in adults.

Case Presentation: A 34-year-old woman was admitted with generalized body numbness and hand convulsions, without growth retardation. Read More

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Genetic evaluation of paediatric nephrocalcinosis: phenotype-driven genetic panels reveal a rare diagnosis.

Clin Kidney J 2022 Apr 17;15(4):812-815. Epub 2021 Dec 17.

University of Glasgow, University Avenue, Glasgow G12 8QQ, UK.

Monogenic causes of paediatric nephrocalcinosis are associated with extensive phenotypic variability. We report a 14-year-old male who presented at 8 years of age with incidentally identified nephrocalcinosis alongside growth impairment and dental anomalies. Extensive genetic investigation confirmed a molecular diagnosis of Bartter syndrome type II. Read More

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Novel SLC12A1 mutations cause Bartter syndrome in two patients with different prognoses.

Clin Chim Acta 2022 Jun 28;531:120-125. Epub 2022 Mar 28.

Genetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China; Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, Guangxi Key Laboratory of Birth Defects and Stem Cell Biobank, Guangxi Key Laboratory of Birth Defects Research and Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China. Electronic address:

Background: Bartter syndrome is an inherited renal tubular disorder that is characterized by hypokalemic, hypochloremic metabolic alkalosis in which the primary defect is a deficiency of transporters involved in sodium chloride reabsorption. Bartter syndrome type 1 is caused by SLC12A1 mutations.

Methods: The patients were from two unrelated non-consanguineous Chinese families. Read More

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Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre-conception carrier screening.

J Paediatr Child Health 2022 05 29;58(5):758-761. Epub 2022 Mar 29.

Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.

Advances in the speed and accessibility of genomic sequencing are broadening the application of this technology to rapid, acute care diagnostics and pre-conception carrier screening. In both circumstances, genetic counselling plays a critical role in preparing couples for the strengths and limitations of the testing. For pre-conception carrier screening in particular, it is important that parents and clinicians are aware that even in the absence of an identified risk for recessive disease, a baby with a genetic condition may still be conceived. Read More

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Clinical exome sequencing uncovers an unsuspected diagnosis of Bartter syndrome type 2 in a child with incidentally detected nephrocalcinosis.

CEN Case Rep 2022 Feb 23. Epub 2022 Feb 23.

Department of Nephrology, Institute of Kidney Diseases and Research Centre, Gujarat University of Transplantation Sciences, Asarwa, Ahmedabad, Gujarat, 380016, India.

Nephrocalcinosis is a characteristic feature of both type 1 and type 2 Bartter syndrome. Bartter syndrome type 2 presents antenatally and very early in life. Late-onset presentation with isolated nephrocalcinosis is extremely rare. Read More

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February 2022

A new missense mutation of calcium sensing receptor with isoleucine replaced by serine at codon 857 leading to type V Bartter syndrome.

Exp Cell Res 2022 05 19;414(1):113080. Epub 2022 Feb 19.

Division of Nephrology, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan; College of Medicine, National Yang-Ming Chiao-Tung University, Taipei, Taiwan. Electronic address:

Several genetic defects on thick ascending limb (TAL) of Henle loop were reported to cause Bartter syndrome (BS) characterized by metabolic alkalosis, hypokalemia, and normal or low blood pressure. Among them, defective basolateral calcium sensing receptors (CaSR) on TAL could result in type V BS that not only presents typical characteristics of BS but also hypocalcemia. Herein we report a 54 years old female patient with a novel mutation of CaSR that leads to type V BS. Read More

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Different roles of the RAAS affect bone metabolism in patients with primary aldosteronism, Gitelman syndrome and Bartter syndrome.

BMC Endocr Disord 2022 Feb 11;22(1):38. Epub 2022 Feb 11.

Endocrinology and Metabolism Disease Department, Tianjin Medical University General Hospital, 154# Anshan Road, Heping District, Tianjin, 300052, China.

Background: Components of the RAAS may influence bone metabolism. Different roles of the RAAS are found in patients with primary aldosteronism (PA), Gitelman syndrome (GS) and Bartter syndrome (BS). We collected inpatient medical records including 20 patients with Gitelman syndrome (GS group), 17 patients with Bartter syndrome (BS group) and 20 age-matched patients with primary aldosteronism (PA group). Read More

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February 2022

Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.

Nephrol Dial Transplant 2022 Feb 7. Epub 2022 Feb 7.

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

Background: Small cohort studies have reported high parathyroid hormone (PTH) levels in patients with Bartter syndrome and lower serum phosphate levels have anecdotally been reported in patients with Gitelman syndrome. In this cross-sectional study, we assessed PTH and phosphate homeostasis in a large cohort of patients with salt-losing tubulopathies.

Methods: Clinical and laboratory data of 589 patients with Bartter and Gitelman syndrome were provided by members of the European Rare Kidney Diseases Reference Network (ERKNet) and the European Society for Pediatric Nephrology (ESPN). Read More

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February 2022

Comparison of Renal Stones and Nephrocalcinosis in Children: Findings From Two Tertiary Centers in Saudi Arabia.

Front Pediatr 2021 17;9:736308. Epub 2022 Jan 17.

Pediatric Nephrology Center of Excellence, Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia.

Renal stones (nephrolithiasis and urolithiasis) and nephrocalcinosis are uncommon in children; however, their incidences in pediatric populations have been increasing. This multicenter retrospective study compared the clinical presentation, etiology, and outcomes of childhood nephrolithiasis or urolithiasis with those of nephrocalcinosis. The study included 144 children: 93 with renal stones and 51 with nephrocalcinosis. Read More

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January 2022

The success of the Cystic Fibrosis Registry of Turkey for improvement of patient care.

Pediatr Pulmonol 2022 05 11;57(5):1245-1252. Epub 2022 Feb 11.

Department of Pediatric Allergy and Immunology, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey.

Background: Cystic fibrosis (CF) registries play an essential role in improving disease outcomes of people with CF. This study aimed to evaluate the association of newly established CF registry system in Turkey on follow-up, clinical, growth, treatment, and complications of people with this disease.

Methods: Age at diagnosis, current age, sex, z-scores of weight, height and body mass index (BMI), neonatal screening results, pulmonary function tests, history of meconium ileus, medications, presence of microorganisms, and follow-up were evaluated and compared to data of people with CF represented in both 2017 and 2019 registry data. Read More

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[Functional characterization of SLC12A1 gene variants in 3 patients with Bartter syndrome type Ⅰ].

Zhonghua Er Ke Za Zhi 2022 Feb;60(2):129-133

Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing 210008, China.

To clarify the molecular basis of patients with Bartter syndrome type I and explore the therapeutic effect of trafficking-defective variations by chemical chaperone 4-Phenylbutyric acid(4-PBA). The clinical characteristics, laboratory findings and genetic data of 3 patients diagnosed with Bartter syndrome type I who were admitted to Department of Nephrology, Children's Hospital of Nanjing Medical University from 2017 to 2018 were retrospectively analyzed. Wild type and variant SLC12A1 gene constructs were transiently overexpressed in HEK293 cells. Read More

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February 2022

Golgi Alpha1,2-Mannosidase IA Promotes Efficient Endoplasmic Reticulum-Associated Degradation of NKCC2.

Cells 2021 12 29;11(1). Epub 2021 Dec 29.

Centre de Recherche des Cordeliers, Sorbonne Université, Inserm, Université de Paris, F-75006 Paris, France.

Mutations in the apically located kidney Na-K-2Cl cotransporter NKCC2 cause type I Bartter syndrome, a life-threatening kidney disorder. We previously showed that transport from the ER represents the limiting phase in NKCC2 journey to the cell surface. Yet very little is known about the ER quality control components specific to NKCC2 and its disease-causing mutants. Read More

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December 2021

Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.

Pediatr Nephrol 2022 Jan 10. Epub 2022 Jan 10.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, India.

Background: Inherited tubulopathies are a heterogeneous group of genetic disorders making whole-exome sequencing (WES) the preferred diagnostic methodology.

Methods: This was a multicenter descriptive study wherein children (< 18 years) with clinically suspected tubular disorders were recruited for molecular testing through WES. Multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing were done when required. Read More

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January 2022

A Bartter syndrome patient presenting with severe growth retardation: Answers.

Pediatr Nephrol 2022 May 9;37(5):1043-1047. Epub 2022 Jan 9.

Department of Pediatric Nephrology, University of Health Sciences, Izmir Tepecik Training and Research Hospital, Gaziler Street No-1 35180, Yenişehir, Konak, Izmir, Turkey.

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A Bartter syndrome patient presenting with severe growth retardation: Questions.

Pediatr Nephrol 2022 May 9;37(5):1041-1042. Epub 2022 Jan 9.

Department of Pediatric Nephrology, University of Health Sciences, Izmir Tepecik Training and Research Hospital, Gaziler Street No-1 35180, Yenişehir, Konak, Izmir, Turkey.

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Utility of Continuous Glucose Monitoring vs Meal Study in Detecting Hypoglycemia After Gastric Bypass.

J Clin Endocrinol Metab 2022 04;107(5):e2095-e2102

Division of Diabetes, University of Texas Health Science Center, San Antonio, TX 78229, USA.

Context: Gastric bypass (GB) increases postprandial glucose excursion, which in turn can predispose to the late complication of hypoglycemia. Diagnosis remains challenging and requires documentation of symptoms associated with low glucose and relief of symptom when glucose is normalized (Whipple triad).

Objective: To compare the yield of mixed meal test (MMT) and continuous glucose monitoring system (CGMS) in detecting hypoglycemia after GB. Read More

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