Database : MEDLINE
Search on : Bartter and Syndrome [Words]
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[PMID]: 29520692
[Au] Autor:Qiu L; Yang F; He Y; Yuan H; Zhou J
[Ad] Address:Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, 430030, China.
[Ti] Title:Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis.
[So] Source:Front Med;, 2018 Mar 09.
[Is] ISSN:2095-0225
[Cp] Country of publication:China
[La] Language:eng
[Ab] Abstract:Cystic fibrosis (CF) is a fatal autosomal-recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. CF is characterized by recurrent pulmonary infection with obstructive pulmonary disease. CF is common in the Caucasian population but is rare in the Chinese population. The symptoms of early-stage CF are often untypical and may sometimes manifest as Bartter syndrome (BS)-like hypokalemic alkalosis. Therefore, the ability of doctors to differentiate CF from BS-like hypokalemic alkalosis in Chinese infants is a great challenge in the timely and accurate diagnosis of CF. In China, sporadic CF has not been diagnosed in children younger than three years of age to date. Three infants, who were initially admitted to our hospital over the period of June 2013 to September 2014 with BS-like hypokalemic alkalosis, were diagnosed with CF through exome sequencing and sweat chloride measurement. The compound heterozygous mutations of the CFTR gene were detected in two infants, and a homozygous missense mutation was found in one infant. Among the six identified mutations, two are novel point mutations (c.1526G > C and c.3062C > T) that are possibly pathogenic. The three infants are the youngest Chinese patients to have been diagnosed with sporadic CF at a very early stage. Follow-up examination showed that all of the cases remained symptom-free after early intervention, indicating the potential benefit of very early diagnosis and timely intervention in children with CF. Our results demonstrate the necessity of distinguishing CF from BS in Chinese infants with hypokalemic alkalosis and the significant diagnostic value of powerful exome sequencing for rare genetic diseases. Furthermore, our findings expand the CFTR mutation spectrum associated with CF.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher
[do] DOI:10.1007/s11684-017-0567-y

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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]: 29442545
[Au] Autor:Wang C; Chen Y; Zheng B; Zhu M; Fan J; Wang J; Jia Z; Huang S; Zhang A
[Ad] Address:Department of Medical Genetics, Nanjing Key Laboratory of pediatrics, Nanjing Children's Hospital Affiliated to Nanjing Medical University, China.
[Ti] Title:Novel Compound Heterozygous CLCNKB Gene Mutations (c.1755A>G/ c.848_850delTCT) Cause Classic Bartter Syndrome.
[So] Source:Am J Physiol Renal Physiol;, 2018 Feb 14.
[Is] ISSN:1522-1466
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Inactivated variants in CLCNKB gene encoding the basolateral chloride channel ClC-Kb cause classic Bartter syndrome characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism. Here we identified two cBS siblings presenting hypokalemia in a Chinese family due to novel compound heterozygous CLCNKB mutations (c.848_850delTCT/c.1755A>G). Compound heterozygosity was confirmed by amplifying and sequencing the patient's genomic DNA. The synonymous mutation c.1755A>G (Thr585Thr) was located at +2bp from the 5' splice donor site in exon 15, further transcript analysis demonstrated that this single nucleotide mutation causes exclusion of exon 15 in the cDNA from the proband and his mother. Furthermore, we investigated the expression and protein trafficking change of c.848_850delTCT (TCT) and exon 15 deletion(E15)mutation in vitro. The E15 mutation markedly decreased the expression of ClC-Kb and resulted in a low-molecular-weight band (~55kD) trapping in the endoplasmic reticulum, while the TCT mutant only decreased the total and plasma membrane ClC-Kb protein expression but did not affect the subcellular localization. Finally, we studied the physiological functions of mutations by using whole-cell patch clamp and found that E15 or TCT mutation decreased the current of ClC-Kb/barttin channel. These results suggested that the compound defective mutations of CLCNKB gene are the molecular mechanism of the two cBS siblings.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180214
[Lr] Last revision date:180214
[St] Status:Publisher
[do] DOI:10.1152/ajprenal.00077.2017

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[PMID]: 29384908
[Au] Autor:Tariq H; Kamal MU; Reddy P; Bajantri B; Niazi M; Matela A; Zeana C; Ihimoyan A; Dev A; Chilimuri S
[Ad] Address:Department of Medicine.
[Ti] Title:Anemia, intractable vomiting, chronic diarrhea, and syndrome of inappropriate antidiuretic secretion: a diagnostic dilemma: Disseminated strongyloidosis in a patient with newly diagnosed HTLV infection-case report and review of literature.
[So] Source:Medicine (Baltimore);96(52):e9229, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:RATIONALE: Strongyloidiasis hyperinfection and disseminated disease have high mortality rates due to several complications and early detection of Strongyloides infection is therefore prudent. PATIENT CONCERNS: A 37-year-old male patient came with chronic diarrhea, intractable vomiting and was found to have hyponatremia, and anemia on the initial laboratory tests. DIAGNOSES: Further work up revealed syndrome of inappropriate antidiuretic secretion to be the cause of the hyponatremia in addition to gastrointestinal loses. His hospital course was complicated by persistent hyponatremia and later development of partial small bowel obstruction. INTERVENTIONS: Considering his symptoms we had a suspicion of small bowel pathology for which he underwent an esophagogastroduodenoscopywith biopsies that revealed strongyloidosis as the cause of his symptoms. He was also found to have human T-cell lymphotropic virus infection, likely contributing to the disseminated disease. OUTCOMES: He was started on ivermectin with complete resolution of symptoms and improvement of hyponatremia. LESSONS: It is very important to suspect Strongyloides infection in a patient presenting with syndrome ofinappropriate antidiuretic secretion as hyperinfection and disseminated disease can be life threatening without antihelmintic therapy.
[Mh] MeSH terms primary: Anemia/etiology
Diarrhea/etiology
HTLV-I Infections/complications
Inappropriate ADH Syndrome/etiology
Strongyloidiasis/diagnosis
Vomiting/etiology
[Mh] MeSH terms secundary: Adult
Animals
HTLV-I Infections/diagnosis
Humans
Inappropriate ADH Syndrome/diagnosis
Inappropriate ADH Syndrome/therapy
Male
Strongyloides stercoralis
Strongyloidiasis/complications
Strongyloidiasis/therapy
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Entry month:1802
[Cu] Class update date: 180209
[Lr] Last revision date:180209
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180201
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009229

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[PMID]: 29421779
[Au] Autor:Bastug F; Nalcacioglu H; Ozaltin F; Korkmaz E; Yel S
[Ti] Title:Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.
[So] Source:Iran J Kidney Dis;12(1):61-63, 2018 Jan.
[Is] ISSN:1735-8604
[Cp] Country of publication:Iran
[La] Language:eng
[Ab] Abstract:Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene. The clinical phenotype of nephropathic cystinosis is characterized by renal tubular Fanconi syndrome and development of end-stage renal disease during the first decade. Although metabolic acidosis is the classically prominent finding of the disease, a few cases may present with hypokalemic metabolic alkalosis mimicking Bartter syndrome. Bartter-like presentation may lead to delay in diagnosis and initiation of specific treatment for cystinosis. We report a case of a 6-year-old girl initially presenting with the features of Bartter syndrome that was diagnosed 2 years later with nephropathic cystinosis and a novel CTNS mutation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[St] Status:In-Data-Review

  6 / 4288 MEDLINE  
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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

  7 / 4288 MEDLINE  
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[PMID]: 29385379
[Au] Autor:Galaviz-Ballesteros MJ; Acosta-Rodríguez-Bueno CP; Consuelo-Sánchez A; Franco-Álvarez I; Olalla-Mera OI; Vázquez-Frias R
[Ad] Address:Departamento de Gastroenterología y Nutrición, Hospital Infantil de México Federico Gómez, Ciudad de México, México.
[Ti] Title:Fe de errores de "Síndrome de pseudo-Bartter como presentación de fibrosis quística con mutación DF508". [Erratum to "Pseudo-Bartter syndrome as manifestation of cystic fibrosis with DF508 mutation"].
[So] Source:Bol Med Hosp Infant Mex;74(1):79, 2017 Jan - Feb.
[Is] ISSN:1665-1146
[Cp] Country of publication:Mexico
[La] Language:spa
[Pt] Publication type:PUBLISHED ERRATUM
[Em] Entry month:1802
[Cu] Class update date: 180131
[Lr] Last revision date:180131
[St] Status:In-Data-Review

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[PMID]: 29335841
[Au] Autor:Germeni E; Vallini I; Bianchetti MG; Schulz PJ
[Ad] Address:Health Economics and Health Technology Assessment (HEHTA), Institute of Health and Wellbeing, University of Glasgow, 1 Lilybank Gardens, Glasgow, G12 8RZ, UK. evi.germeni@glasgow.ac.uk.
[Ti] Title:Reconstructing normality following the diagnosis of a childhood chronic disease: does "rare" make a difference?
[So] Source:Eur J Pediatr;, 2018 Jan 16.
[Is] ISSN:1432-1076
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Living with a childhood chronic disease can be challenging, especially if the diagnosis involves a rare condition. This study sought to elucidate how the diagnosis of a rare disease, as compared to a common, chronic condition, may influence maternal experiences of childhood illness. We conducted face-to-face, semi-structured interviews with 26 mothers of children treated in a pediatric hospital in the province of Lecco, Italy. Half of the participants had a child diagnosed with Bartter syndrome (BS), and the rest had a child suffering from celiac disease (CD). Interviews were recorded, transcribed, and analyzed using an inductive thematic approach. We identified three main themes from the analysis of our data: (1) disrupted normality and the need to know, (2) reconstructing normality, and (3) acting "normal." Although most participants experienced the disclosure of diagnosis as a relief, processes that facilitated normality reconstruction in celiac families, notably access to appropriate information, social support, and personal contact with comparison others, were found to be important stressors for mothers living with BS. CONCLUSION: This comparative qualitative study provides evidence on how well-known problems associated with the rarity of childhood diseases impact on families' efforts to cope with the illness and regain a sense of normality. What is Known: • Families living with a rare disease have been found to experience a range of common problems, directly linked to the rarity of these pathologies. What is New: • Maximization of both emotional and instrumental social support, through provision of appropriate information or establishment of disease-specific support groups, could greatly contribute to rare disease families' efforts to cope with childhood illness and regain a sense of normality.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180116
[Lr] Last revision date:180116
[St] Status:Publisher
[do] DOI:10.1007/s00431-017-3085-7

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[PMID]: 28460866
[Au] Autor:Lubomski M; Brown L; Markus R
[Ad] Address:Department of Neurology, St Vincent's Hospital, 390 Victoria St, Darlinghurst, NSW, 2010 Sydney, Australia; The University of Notre Dame Australia, School of Medicine, Sydney, 160 Oxford St, Darlinghurst, NSW, 2010 Sydney, Australia. Electronic address: michal.lubomski@nd.edu.au.
[Ti] Title:An unusual presentation of varicella zoster virus with acute cerebellitis and SIADH without a rash.
[So] Source:J Clin Neurosci;41:90-91, 2017 Jul.
[Is] ISSN:1532-2653
[Cp] Country of publication:Scotland
[La] Language:eng
[Ab] Abstract:We report a case of varicella-zoster virus (VZV) infection with acute cerebellitis and encephalitis with associated Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH) in an elderly man presenting with acute cerebellar ataxia without antecedent rash. Cerebrospinal fluid examination (CSF) revealed a mononuclear pleocytosis, high protein, normal glucose, positive for VZV polymerase chain reaction (PCR). Early acyclovir treatment is beneficial for acute VZV cerebellitis. Clinicians should consider infectious Central Nervous System (CNS) causes for presentations of acute cerebellar ataxia in adult patients, particularly if there is an accompanying clouded sensorium.
[Mh] MeSH terms primary: Encephalitis, Varicella Zoster/diagnosis
Inappropriate ADH Syndrome/diagnosis
[Mh] MeSH terms secundary: Acyclovir/therapeutic use
Aged, 80 and over
Antiviral Agents/therapeutic use
Cerebellum/pathology
Encephalitis, Varicella Zoster/drug therapy
Exanthema/diagnosis
Humans
Male
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Antiviral Agents); X4HES1O11F (Acyclovir)
[Em] Entry month:1801
[Cu] Class update date: 180112
[Lr] Last revision date:180112
[Js] Journal subset:IM
[Da] Date of entry for processing:170503
[St] Status:MEDLINE

  10 / 4288 MEDLINE  
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[PMID]: 29168366
[Au] Autor:Basaran AE; Karatas-Torun N; Maslak IC; Bingöl A; Alper ÖM
[Ad] Address:Division of Pediatric Pulmonology, Department of Pediatrics, Akdeniz University Faculty of Medicine, Antalya, Turkey.
[Ti] Title:Normal sweat chloride test does not rule out cystic fibrosis.
[So] Source:Turk J Pediatr;59(1):68-70, 2017.
[Is] ISSN:0041-4301
[Cp] Country of publication:Turkey
[La] Language:eng
[Ab] Abstract:Basaran AE, Karatas-Torun N, Maslak IC, Bingöl A, Alper ÖM. Normal sweat chloride test does not rule out cystic fibrosis. Turk J Pediatr 2017; 59: 68-70. A 5-month-old patient presented with complaints of fever and cough. He was hospitalized with the diagnosis of bronchopneumonia and pseudo-Bartter's syndrome. Patient was further investigated for diagnosis of cystic fibrosis. The chloride (Cl) level in sweat was determined within the normal range (25.1 mmol/L, 20.3 mmol/L). CFTR (Cystic Fibrosis Transmembrane Regulator gene; NM_000492.2) genotyping results were positive for p.E92K; p.F1052V mutations. The patient was diagnosed with cystic fibrosis. In our patient, with features of CF and normal sweat test, mutation analysis was helpful for the diagnosis of cystic fibrosis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171123
[Lr] Last revision date:171123
[St] Status:In-Process


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