1,757 results match your criteria Bartter Syndrome


Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.

Orphanet J Rare Dis 2019 Feb 13;14(1):41. Epub 2019 Feb 13.

Genome Research Division, Human Genetics department, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525KL, Nijmegen, The Netherlands.

Background: Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis. Mutations in several genes encoding for ion channels localizing to the renal tubules including SLC12A1, KCNJ1, BSND, CLCNKA, CLCNKB, MAGED2 and CASR have been identified as underlying molecular cause. No genetically defined cases have been described in the Iranian population to date. Read More

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http://dx.doi.org/10.1186/s13023-018-0981-5DOI Listing
February 2019
1 Read

Osteomalacia in a Case of Adult-Onset Bartter Syndrome.

Eur J Case Rep Intern Med 2018 21;5(3):000764. Epub 2018 Mar 21.

Internal Medicine, Liaquat College of Medicine and Dentistry and Darul Sehat Hospital, Karachi, Pakistan.

Bartter syndrome is a rare heterogeneous disease characterised by a deficiency in sodium and chloride absorption. Gain-of-function mutations in the CASR gene have been described in some patients with Bartter syndrome associated with hypocalcaemia and hypercalciuria. We describe a case of adult-onset Bartter syndrome with hypocalcaemia severe enough to cause osteomalacia. Read More

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http://dx.doi.org/10.12890/2018_000764DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346954PMC
March 2018
1 Read

New Insights into the Mechanism of NO Selectivity in the Human Kidney Chloride Channel ClC-Ka and the CLC Protein Family.

J Am Soc Nephrol 2019 Feb 11;30(2):293-302. Epub 2019 Jan 11.

Dulbecco Telethon Laboratory, Istituto di Biofisica, Consiglio Nazionale delle Ricerche, Genova, Italy; and

Background: The mechanism of anion selectivity in the human kidney chloride channels ClC-Ka and ClC-Kb is unknown. However, it has been thought to be very similar to that of other channels and antiporters of the CLC protein family, and to rely on anions interacting with a conserved Ser residue (Ser) at the center of three anion binding sites in the permeation pathway S. In both CLC channels and antiporters, mutations of Ser alter the anion selectivity. Read More

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http://dx.doi.org/10.1681/ASN.2018060593DOI Listing
February 2019
2 Reads

Urinary proteome in inherited nephrolithiasis.

Urolithiasis 2019 Feb 18;47(1):91-98. Epub 2018 Dec 18.

Chair of Nephrology, Department of Translational Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.

In the last decades, proteomics has been largely applied to the Nephrology field, with the double aim to (1) elucidate the biological processes underlying renal diseases; (2) identify disease-specific biomarkers, predictor factors of therapeutic efficacy and prognostic factors of disease progression. Kidney stone disease, and in particular, inherited nephrolithiasis (INL) are not an exception. Given the multifactorial origin of these disorders, the combination of genomics and proteomics studies may complement each other, with the final objective to give a global and comprehensive mechanistic view. Read More

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http://dx.doi.org/10.1007/s00240-018-01104-yDOI Listing
February 2019
2 Reads

Bartter syndrome: causes, diagnosis, and treatment.

Int J Nephrol Renovasc Dis 2018 9;11:291-301. Epub 2018 Nov 9.

Nephrology Division, Universidade Federal de São Paulo (UNIFESP), Escola Paulista de Medicina, São Paulo, Brazil,

Bartter syndrome is an inherited renal tubular disorder caused by a defective salt reabsorption in the thick ascending limb of loop of Henle, resulting in salt wasting, hypokalemia, and metabolic alkalosis. Mutations of several genes encoding the transporters and channels involved in salt reabsorption in the thick ascending limb cause different types of Bartter syndrome. A poor phenotype-genotype relationship due to the interaction with other cotransporters and different degrees of compensation through alternative pathways is currently reported. Read More

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https://www.dovepress.com/bartter-syndrome-causes-diagnosis-
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http://dx.doi.org/10.2147/IJNRD.S155397DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233707PMC
November 2018
12 Reads

Living kidney donation from people at risk of nephrolithiasis, with a focus on the genetic forms.

Urolithiasis 2019 Feb 23;47(1):115-123. Epub 2018 Nov 23.

UOC Nefrologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Deciding whether to accept a donor with nephrolithiasis is a multifaceted task because of the challenge of finding enough suitable donors while at the same time ensuring the safety of both donors and recipients. Until not long ago, donors with a history of renal stones or with stones emerging during screening on imaging were not considered ideal, but recent guidelines have adopted less stringent criteria for potential donors at risk of stones. This review goes through the problems that need to be approached to arrive at a wise clinical decision, balancing the safety of donors and recipients with the need to expand the organ pool. Read More

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http://dx.doi.org/10.1007/s00240-018-1092-4DOI Listing
February 2019
8 Reads

Bartter Syndrome and Gitelman Syndrome.

Pediatr Clin North Am 2019 02;66(1):121-134

Department of Pediatrics, Inova Children's Hospital, 3300 Gallows Road, Falls Church, VA 22042, USA; Division of Nephrology and Hypertension, Pediatric Specialists of Virginia, 3023 Hamaker Court, Suite 600, Fairfax, VA 22031, USA; Virginia Commonwealth School of Medicine, Richmond, VA, USA. Electronic address:

Bartter and Gitelman syndromes are conditions characterized by renal salt-wasting. Clinical presentations range from severe antenatal disease to asymptomatic with incidental diagnosis. Hypokalemic hypochloremic metabolic alkalosis is the common feature. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00313955183013
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http://dx.doi.org/10.1016/j.pcl.2018.08.010DOI Listing
February 2019
11 Reads

Effect of nonsteroidal anti-inflammatory drugs in children with Bartter syndrome.

Pediatr Nephrol 2018 Nov 13. Epub 2018 Nov 13.

Pediatric Nephrology Department, Robert Debre University Hospital, APHP, 48, Bd Serurier, 75019, Paris, France.

Background: Bartter syndrome (BS) is a salt-wasting tubulopathy with induced expression of cyclooxygenase-2 in the macula densa, leading to increased prostaglandin production and hyperreninemia. Nonsteroidal anti-inflammatory drugs (NSAIDs) are currently used in BS; however, there is limited information on the impact of NSAIDs at treatment initiation or the potential utility of plasma renin level to guide therapy in patients with BS.

Methods: We included 19 patients with BS treated with NSAIDs between 1994 and 2016. Read More

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http://link.springer.com/10.1007/s00467-018-4135-8
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http://dx.doi.org/10.1007/s00467-018-4135-8DOI Listing
November 2018
12 Reads

Two neonates with Bartter syndrome.

J Pak Med Assoc 2018 Nov;68(11):1721-1723

Children hospital, Pakistan Institute of Medical Sciences, Islamabad.

Bartter syndrome is an autosomal recessive disorder caused by gene mutations that involve hypokalaemia, hypochloraemia and metabolic alkalosis along with raised serum renin, hyperaldosteronism and normal blood pressure. We report two cases of neonatal Bartter syndrome. Case 1 was a product of non-consanguineous marriage and mother had unexplained polyhydramnios in pregnancy while case 2 was a product of consanguineous marriage. Read More

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November 2018
10 Reads

Barttin Regulates the Subcellular Localization and Posttranslational Modification of Human Cl/H Antiporter ClC-5.

Front Physiol 2018 23;9:1490. Epub 2018 Oct 23.

Institute for Neurophysiology, Hannover Medical School, Hanover, Germany.

Dent disease 1 (DD1) is a renal salt-wasting tubulopathy associated with mutations in the Cl/H antiporter ClC-5. The disease typically manifests with proteinuria, hypercalciuria, nephrocalcinosis, and nephrolithiasis but is characterized by large phenotypic variability of no clear origin. Several DD1 cases have been reported lately with additional atypical hypokalemic metabolic alkalosis and hyperaldosteronism, symptoms usually associated with another renal disease termed Bartter syndrome (BS). Read More

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https://www.frontiersin.org/article/10.3389/fphys.2018.01490
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http://dx.doi.org/10.3389/fphys.2018.01490DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6206076PMC
October 2018
5 Reads

Bartter syndrome and growth hormone deficiency: Three siblings with a novel CLCNKB mutation.

Pediatr Int 2018 Nov 2. Epub 2018 Nov 2.

Department of Pediatrics, University of Pavia, Pavia, Italy.

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http://doi.wiley.com/10.1111/ped.13726
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http://dx.doi.org/10.1111/ped.13726DOI Listing
November 2018
4 Reads

A novel differential diagnosis to nonobstructive diffuse and dilated bowel loops with polyhydramnios: Bartter syndrome.

J Clin Ultrasound 2019 Jan 23;47(1):42-43. Epub 2018 Sep 23.

Department of Obstetrics and Gynecology, Rambam Medical Center, Haifa, Israel.

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http://dx.doi.org/10.1002/jcu.22642DOI Listing
January 2019
7 Reads

Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome.

Int J Pediatr Otorhinolaryngol 2018 Oct 10;113:46-50. Epub 2018 Jul 10.

Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco. Electronic address:

Objectives: Hearing loss (HL) is one of the most common sensorineural disorders. In the present study, we identified two novel missense mutations in BSND gene causing Bartter syndrome type IV which is a genetic disease with an autosomal recessive transmission, characterized by hypokalaemia, metabolic alkalosis, an elevation in plasma renin activity and hyperaldosteronism as well as sensorineural deafness.

Methods: Whole-exome sequencing was performed to study the genetic causes of Hearing loss in two unrelated patients from two Moroccan families. Read More

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http://dx.doi.org/10.1016/j.ijporl.2018.07.010DOI Listing
October 2018
12 Reads

Bartter syndrome-like phenotype in a patient with diabetes: a case report.

J Med Case Rep 2018 Aug 17;12(1):222. Epub 2018 Aug 17.

Department of Medicine, University of Peradeniya, Peradeniya, Sri Lanka.

Background: Bartter's syndrome is a rare genetic tubulopathy affecting the loop of Henle leading to salt wasting. It is commonly seen in utero or in early neonatal period. Rare cases of acquired Bartter's syndrome are reported in association with infections like tuberculosis, granulomatous conditions like sarcoidosis, autoimmune diseases, and drugs. Read More

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http://dx.doi.org/10.1186/s13256-018-1752-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097298PMC
August 2018
16 Reads

Etiological Search and Epidemiological Profile in Patients Presenting with Hypokalemic Paresis: An Observational Study.

Indian J Endocrinol Metab 2018 May-Jun;22(3):397-404

Department of Medicine, Midnapore Medical College and Hospital, Medinipur, West Bengal, India.

Introduction: Hypokalemia is associated with increased morbidity and at times mortality. "Hypokalemic paralysis", particularly if recurrent, has often been considered synonymous with "hypokalemic periodic paralysis (HPP)"; however, diseases such as Gitelman syndrome (GS), Bartter syndrome (BS), and renal tubular acidosis (RTA) can have identical presentation. We have tried to explore the etiological spectrum along with epidemiological and certain clinical, biochemical, and electrophysiological features in patients with hypokalemic paralysis. Read More

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http://www.ijem.in/text.asp?2018/22/3/397/236794
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http://dx.doi.org/10.4103/ijem.IJEM_633_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063177PMC
August 2018
5 Reads

Liquorice, Liddle, Bartter or Gitelman-how to differentiate?

Nephrol Dial Transplant 2019 Jan;34(1):38-39

UCL Centre for Nephrology, Royal Free Hospital, University College, London, UK.

Hypokalaemia with alkalosis can suggest excess aldosterone. Aldosterone stimulates the collecting duct mineralocorticoid receptor (MR) to upregulate the epithelial sodium channel (ENaC) and stimulate electrogenic sodium reabsorption, with secretion of potassium and protons. Gitelman, Bartter and Liddle syndrome, and liquorice ingestion all cause hypokalaemic alkalosis. Read More

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http://dx.doi.org/10.1093/ndt/gfy199DOI Listing
January 2019
11 Reads

Genetic screening for Bartter syndrome and Gitelman syndrome pathogenic genes among individuals with hypertension and hypokalemia.

Clin Exp Hypertens 2018 Jun 28:1-8. Epub 2018 Jun 28.

b Hypertension Center of Fuwai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases , Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing , China.

Purpose: Bartter syndrome (BS) and Gitelman syndrome (GS) are hereditary diseases characterized by hypokalemia with decreased or normal blood pressure (BP). However, BS or GS patients who present with elevated BP levels have been increasingly reported recently. Therefore, this study aimed to investigate the presence of BS and GS among individuals with unexplained hypokalemia with hypertension in a clinical setting. Read More

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https://www.tandfonline.com/doi/full/10.1080/10641963.2018.1
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http://dx.doi.org/10.1080/10641963.2018.1489547DOI Listing
June 2018
9 Reads

Clinical and diagnostic features of Bartter and Gitelman syndromes.

Clin Kidney J 2018 Jun 10;11(3):302-309. Epub 2017 Nov 10.

Department of Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

Background: Bartter and Gitelman syndromes are autosomal recessive disorders of renal tubular salt handling. Due to their rarity, limited long-term data are available to inform prognosis and management.

Methods: Long-term longitudinal data were analysed for 45 children with pathogenic variants in ( = 8), ( = 8), ( = 17), ( = 2) and ( = 10) seen at a single centre between 1984 and 2014. Read More

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http://dx.doi.org/10.1093/ckj/sfx118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007694PMC
June 2018
15 Reads

Ion Channels in Drug Discovery and Safety Pharmacology.

Methods Mol Biol 2018 ;1800:313-326

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

Ion channels are membrane proteins involved in almost all physiological processes, including neurotransmission, muscle contraction, pace-making activity, secretion, electrolyte and water balance, immune response, and cell proliferation. Due to their broad distribution in human body and physiological roles, ion channels are attractive targets for drug discovery and safety pharmacology. Over the years ion channels have been associated to many genetic diseases ("channelopathies"). Read More

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http://dx.doi.org/10.1007/978-1-4939-7899-1_15DOI Listing
January 2018
17 Reads

Bartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen.

Front Pediatr 2018 30;6:153. Epub 2018 May 30.

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

To investigate the phenotype-genotype correlation in different genetic kinds of Bartter syndrome type 3 in children. Clinical and genetic data of 2 patients with different mutations in Bartter syndrome type 3 was analyzed while the prognosis was compared after a 6-year follow-up or 2-year follow-up, respectively. Bartter syndrome is a kind of autosomal recessive inherited renal disorder. Read More

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http://dx.doi.org/10.3389/fped.2018.00153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5989644PMC
May 2018
3 Reads

Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome.

J Hum Genet 2018 Jul 30;63(8):887-892. Epub 2018 May 30.

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

Pseudo-Bartter/Gitelman syndrome (p-BS/GS) encompasses a clinically heterogeneous group of inherited or acquired disorders similar to Bartter syndrome (BS) or Gitelman syndrome (GS), both renal salt-losing tubulopathies. Phenotypic overlap frequently occurs between p-BS/GS and BS/GS, which are difficult to diagnose based on their clinical presentation and require genetic tests for accurate diagnosis. In addition, p-BS/GS can occur as a result of other inherited diseases such as cystic fibrosis, autosomal dominant hypocalcemia, Dent disease, or congenital chloride diarrhea (CCD). Read More

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http://dx.doi.org/10.1038/s10038-018-0470-7DOI Listing
July 2018
38 Reads

[Bartter syndrome, severe rare orphan kidney disease: a step towards therapy through pharmacogenetic and epidemiological studies].

G Ital Nefrol 2018 May;35(3)

Dipartimento di Farmacia - Scienze del Farmaco, Università di Bari, Italia.

Bartter syndromes (BS) types 1-5 are rare salt-losing tubulopathies presenting with overlapping clinical phenotypes including marked salt wasting and hypokalemia leading to polyuria, polydipsia, volume contraction, muscle weakness and growth retardation. These diseases are due to an impairment of sodium, potassium, chloride reabsorption caused by mutations in genes encoding for ion channel or transporters expressed in specific nephron tubule segments. Particularly, BS type 3 is a clinically heterogeneous form caused by mutations in CLCNKB gene which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. Read More

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May 2018
16 Reads

Critical gaps in the medical knowledge base of eating disorders.

Eat Weight Disord 2018 Aug 21;23(4):419-430. Epub 2018 Apr 21.

ACUTE, at Denver Health, 777 Bannock Street, Denver, CO, 80204, USA.

Eating disorders are unique in that they inherently have much medical comorbidity both as a part of restricting-type eating disorders and those characterized by purging behaviors. Over the last three decades, remarkable progress has been made in the understanding and treatment of the medical complications of eating disorders. Yet, unfortunately, there is much research that is sorely needed to bridge the gap between current medical knowledge and more effective and evidence-based medical treatment knowledge. Read More

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http://dx.doi.org/10.1007/s40519-018-0503-4DOI Listing
August 2018
6 Reads

MAGED2: a novel form of antenatal Bartter's syndrome.

Curr Opin Nephrol Hypertens 2018 07;27(4):323-328

INSERM/UPMC/CNRS-U1138, ERL8228, Team 3, Paris Cedex 06, France.

Purpose Of Review: Antenatal Bartter's syndrome (aBS) is the most severe form of Bartter's syndrome, requiring close follow-up, in particular during the neonatal period, primarily because of prematurity. The recent identification of a novel and very severe form of aBS merits an update on this topic.

Recent Finding: Despite the identification of several genes involved in Bartter's syndrome, about 20% of patients clinically diagnosed with aBS remained without genetic explanation for decades. Read More

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http://dx.doi.org/10.1097/MNH.0000000000000422DOI Listing
July 2018
5 Reads

Activation of renal ClC-K chloride channels depends on an intact N terminus of their accessory subunit barttin.

J Biol Chem 2018 06 19;293(22):8626-8637. Epub 2018 Apr 19.

From the Institute for Neurophysiology, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany

ClC-K channels belong to the CLC family of chloride channels and chloride/proton antiporters. They contribute to sodium chloride reabsorption in Henle's loop of the kidney and to potassium secretion into the endolymph by the stria vascularis of the inner ear. Their accessory subunit barttin stabilizes the ClC-K/barttin complex, promotes its insertion into the surface membrane, and turns the pore-forming subunits into a conductive state. Read More

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http://dx.doi.org/10.1074/jbc.RA117.000860DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986197PMC
June 2018
10 Reads

Furosemide-induced tubular dysfunction responding to prostaglandin synthesis inhibitor therapy in a child with nephrotic syndrome.

CEN Case Rep 2018 11 22;7(2):195-197. Epub 2018 Mar 22.

Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.

Furosemide is one of the most common drug used to treat anasarca in childhood nephrotic syndrome. It has minimal side effects on short-term usage, but prolonged use can result in polyuria, hypokalemia and metabolic alkalosis. This pseudo-bartter complication can be treated by discontinuation of the drug with adequate potassium replacement. Read More

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http://dx.doi.org/10.1007/s13730-018-0324-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6181891PMC
November 2018
13 Reads

Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus.

Case Rep Pediatr 2018 21;2018:9175271. Epub 2018 Feb 21.

Medical Genetics Laboratory, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy.

Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis. Read More

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http://dx.doi.org/10.1155/2018/9175271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841104PMC
February 2018
7 Reads

Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis.

Front Med 2018 Oct 9;12(5):550-558. Epub 2018 Mar 9.

Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, 430030, China.

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. Read More

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http://dx.doi.org/10.1007/s11684-017-0567-yDOI Listing
October 2018
7 Reads

Novel compound heterozygous CLCNKB gene mutations (c.1755A>G/c.848_850delTCT) cause classic Bartter syndrome.

Am J Physiol Renal Physiol 2018 Oct 14;315(4):F844-F851. Epub 2018 Feb 14.

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

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. Read More

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http://dx.doi.org/10.1152/ajprenal.00077.2017DOI Listing
October 2018
10 Reads

Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.

Iran J Kidney Dis 2018 01;12(1):61-63

Kayseri Education and Research Hospital, Department of Pediatric Nephrology, Kayseri, Turkey.

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. Read More

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January 2018
6 Reads

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.

Kidney Int 2018 04 15;93(4):961-967. Epub 2018 Feb 15.

Centre for Nephrology, University College London, London, UK; Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. Electronic address:

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. Read More

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http://dx.doi.org/10.1016/j.kint.2017.10.016DOI Listing
April 2018
29 Reads
2 Citations
8.560 Impact Factor

[Erratum to "Pseudo-Bartter syndrome as manifestation of cystic fibrosis with DF508 mutation"].

Bol Med Hosp Infant Mex 2017 Jan - Feb;74(1):79. Epub 2017 Feb 27.

Departamento de Gastroenterología y Nutrición, Hospital Infantil de México Federico Gómez, Ciudad de México, México. Electronic address:

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http://dx.doi.org/10.1016/j.bmhimx.2017.01.001DOI Listing
February 2017
3 Reads

Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases.

Clin Exp Nephrol 2018 Aug 25;22(4):881-888. Epub 2018 Jan 25.

Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

Background: Comprehensive genetic approaches for diagnosing inherited kidney diseases using next-generation sequencing (NGS) have recently been established. However, even with these approaches, we are still failing to detect gene defects in some patients who appear to suffer from genetic diseases. One of the reasons for this is the difficulty of detecting copy number variations (CNVs) using our current approaches. Read More

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http://dx.doi.org/10.1007/s10157-018-1534-xDOI Listing
August 2018
19 Reads

Reconstructing normality following the diagnosis of a childhood chronic disease: does "rare" make a difference?

Eur J Pediatr 2018 Apr 16;177(4):489-495. Epub 2018 Jan 16.

Institute of Communication and Health (ICH), Faculty of Communication Sciences, Università della Svizzera Italiana, 6900, Lugano, Switzerland.

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. Read More

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http://dx.doi.org/10.1007/s00431-017-3085-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5851707PMC
April 2018
12 Reads

Mutation spectrum of Chinese patients with Bartter syndrome.

Oncotarget 2017 Nov 27;8(60):101614-101622. Epub 2017 Sep 27.

Central Laboratory, Affiliated Hospital, Qingdao University, Qingdao 266003, P.R. China.

Objective: Bartter syndrome (BS) has been rarely reported in Chinese population except for a few case reports. This investigation was aimed to analyze the mutations of the causal genes in sixteen Chinese patients with BS, and review their followup and treatment.

Methods: Identify mutations by the next generation sequencing and the multiplex ligation-dependent probe amplification (MLPA). Read More

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http://dx.doi.org/10.18632/oncotarget.21355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5731900PMC
November 2017
5 Reads

Salt-Losing Tubulopathies in Children: What's New, What's Controversial?

J Am Soc Nephrol 2018 Mar 13;29(3):727-739. Epub 2017 Dec 13.

UCL Centre for Nephrology and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom

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. Read More

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http://dx.doi.org/10.1681/ASN.2017060600DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5827598PMC
March 2018
10 Reads

Potassium Homeostasis, Oxidative Stress, and Human Disease.

Int J Clin Exp Physiol 2017 ;4(3):111-122

Molecular Toxicology Research laboratory, NIH RCMI-Center for Environmental Health, College of Science, Engineering and Technology, Jackson State University, Jackson, Mississippi, MS 39217, USA.

Potassium is the most abundant cation in the intracellular fluid and it plays a vital role in the maintenance of normal cell functions. Thus, potassium homeostasis across the cell membrane, is very critical because a tilt in this balance can result in different diseases that could be life threatening. Both Oxidative stress (OS) and potassium imbalance can cause life threatening health conditions. Read More

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http://dx.doi.org/10.4103/ijcep.ijcep_43_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5716641PMC
January 2017
6 Reads

Prevalence of Novel Mutations in Antenatal Bartter Syndrome.

Clin J Am Soc Nephrol 2018 Feb 16;13(2):242-250. Epub 2017 Nov 16.

Due to the number of contributing authors, the affiliations are provided in the Supplemental Material.

Background And Objectives: Mutations in the gene, located on the X chromosome, have been recently detected in males with a transient form of antenatal Bartter syndrome or with idiopathic polyhydramnios. The aim of this study is to analyze the proportion of the population with mutations in this gene in a French cohort of patients with antenatal Bartter syndrome.

Design, Setting, Participants, & Measurements: The French cohort of patients with antenatal Bartter syndrome encompasses 171 families. Read More

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http://dx.doi.org/10.2215/CJN.05670517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5967426PMC
February 2018
49 Reads

Antenatal Bartter syndrome presenting with vomiting and constipation mimicking subacute intestinal obstruction in a 20-day-old neonate.

BMJ Case Rep 2017 Nov 14;2017. Epub 2017 Nov 14.

Hamad Medical Corporation, Doha, Qatar.

Antenatal Bartter syndrome is a rare condition that can present with different clinical features. These features include early onset maternal polyhydramnios, failure to thrive, prematurity and nephrocalcinosis.We are presenting this 20-day-old girl who had an antenatal history of polyhydramnios. Read More

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http://dx.doi.org/10.1136/bcr-2017-221062DOI Listing
November 2017
18 Reads

Pseudo-Bartter Syndrome in a Chinese Infant with Cystic Fibrosis Caused by c.532G>A Mutation in .

Chin Med J (Engl) 2017 11;130(22):2771-2772

National Clinical Research Center for Respiratory Diseases, Department of Respiratory Medicine, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.

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http://dx.doi.org/10.4103/0366-6999.218015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5695073PMC
November 2017
11 Reads

Urinary bladder hypertrophy characteristic of male ROMK Bartter's mice does not occur in female mice.

Am J Physiol Regul Integr Comp Physiol 2018 03 1;314(3):R334-R341. Epub 2017 Nov 1.

Department of Cellular and Molecular Physiology, Yale University, School of Medicine , New Haven, Connecticut.

The renal outer medullary potassium channel (ROMK; K1.1) plays an important role in Na and K homeostasis. ROMK knockout (KO) mice show a similar phenotype to Bartter's syndrome of salt wasting and dehydration due to reduced Na-2Cl-K-cotransporter activity but not in ROMK1 KO mice. Read More

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http://dx.doi.org/10.1152/ajpregu.00315.2017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5899254PMC
March 2018
11 Reads

Unusual Complication of Multidrug Resistant Tuberculosis.

Case Rep Nephrol 2017 18;2017:6835813. Epub 2017 Sep 18.

Division of Medicine, Seth G.S. Medical College & KEM Hospital, Parel, Mumbai 400 012, India.

Introduction: Capreomycin is a second-line drug often used for multidrug-resistant tuberculosis which can result in nephrotoxic effects similar to other aminoglycosides. We describe a case of capreomycin induced Bartter-like syndrome with hypocalcemic tetany.

Case Report: 23-year-old female patient presented with carpopedal spasms and tingling sensations in hands. Read More

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http://dx.doi.org/10.1155/2017/6835813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5624136PMC
September 2017
11 Reads

[A clinical and hereditary analysis of novel complex heterozygous mutation in a Bartter syndrome type Ⅱ patient].

Zhonghua Nei Ke Za Zhi 2017 Oct;56(10):760-762

Department of Endocrinology, Key Laboratory of Endocrinology of National Health and Family Planning Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.

Bartter syndrome (BS) is a hereditary condition transmitted as an autosomal recessive (Bartter type 1 to 4) or dominant trait (Bartter type 5). The disease associates hypokalemic alkalosis with varying degrees of hypercalciuria. Here we presented a case (BS type Ⅱ) of a 17 years old female presented with polyhydramnios, polyuria, nephrocalcinosis and hypokalemia, which was alleviated after treatment with celecoxib and vitamin D(3). Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1426.2017.10.010DOI Listing
October 2017
10 Reads

Maternal Pseudo-Bartter Syndrome Associated with Severe Perinatal Brain Injury.

Indian Pediatr 2017 Sep;54(9):771-773

Department of Neonatology, KK Women's and Children's Hospital, 100, Bukit Timah Road, Singapore. Correspondence to: Dr Shrenik Vora, Senior Staff Registrar, Department of Neonatology, KK Women's and Children's Hospital, 100, Bukit Timah Road, Singapore 229899,

Background: Maternal electrolyte imbalance is rarely reported as causative factor of severe perinatal brain injury.

Case Characteristics: This case outlines a unique maternal and neonatal pseudo-Bartter syndrome presented with metabolic alkalosis and hypochloremia due to maternal severe vomiting.

Observation: Neonatal MRI brain revealed extensive brain hemorrhages with porencephalic cysts. Read More

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September 2017
12 Reads

Late-onset Bartter syndrome type II.

Clin Kidney J 2017 Oct 8;10(5):594-599. Epub 2017 May 8.

Experimental and Clinical Research Center (ECRC), a joint cooperation between the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine (MDC) in the Helmholtz Association of National Research Centers, Berlin, Germany.

Mutations in the ROMK1 potassium channel gene () cause antenatal/neonatal Bartter syndrome type II (aBS II), a renal disorder that begins , accounting for the polyhydramnios and premature delivery that is typical in affected infants, who develop massive renal salt wasting, hypokalaemic metabolic alkalosis, secondary hyperreninaemic hyperaldosteronism, hypercalciuria and nephrocalcinosis. This BS type is believed to represent a disorder of the infancy, but not in adulthood. We herein describe a female patient with a remarkably late-onset and mild clinical manifestation of BS II with compound heterozygous missense mutations, consisting of a novel c. Read More

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http://dx.doi.org/10.1093/ckj/sfx033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5622898PMC
October 2017
15 Reads

Neonatal bartter syndrome in an extremely low birth weight baby.

Saudi J Kidney Dis Transpl 2017 Sep-Oct;28(5):1162-1164

Department of Neonatology, Lokmanya Tilak Municipal Medical College and Hospital, Mumbai, Maharashtra, India.

Early diagnosis of Bartter syndrome (BS) in the neonatal period is a clinical challenge, more so in an extremely low birth weight (ELBW) baby because of the inherent renal immaturity and the associated difficulty in fluid management. However, once a diagnosis is made, the disorder is known to respond well to fluid and electrolyte management, prostaglandin inhibitors, and potassium-sparing diuretics. Herein, we report a case of neonatal BS in a very premature ELBW infant. Read More

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http://dx.doi.org/10.4103/1319-2442.215121DOI Listing
September 2017
10 Reads

Association of Amelogenesis Imperfecta and Bartter's Syndrome.

Indian J Nephrol 2017 Sep-Oct;27(5):399-401

Department of Nephrology, Sri Venkateswara Institute of Medical Sciences, Tirupati, Andhra Pradesh, India.

Bartter's syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure. Bartter's syndrome is associated with hypercalciuria and nephrocalcinosis. Amelogenesis imperfecta (AI) is a group of hereditary disorders that affect dental enamel. Read More

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http://dx.doi.org/10.4103/ijn.IJN_203_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590420PMC
September 2017
14 Reads

[Expert consensus for the diagnosis and treatment of patients with Gitelman syndrome].

Authors:

Zhonghua Nei Ke Za Zhi 2017 Sep;56(9):712-716

Gitelman syndrome (GS) is an autosomal recessive, salt-losing tubulopathy caused by inactivating mutations in the 123 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. GS is one of the most common inherited renal tubulopathy with a prevalence estimated at about one to ten per 40 000 people. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1426.2017.09.021DOI Listing
September 2017
33 Reads

[Gene analysis in a family with adult onset Bartter syndrome type 2].

Authors:
Y Han F Wang Y G Wang

Zhonghua Nei Ke Za Zhi 2017 09;56(9):679-680

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http://dx.doi.org/10.3760/cma.j.issn.0578-1426.2017.09.012DOI Listing
September 2017
8 Reads