2,119 results match your criteria Bartter Syndrome
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
Urolithiasis 2018 Nov 23. 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
Urolithiasis 2018 Nov 20. Epub 2018 Nov 20.
Division of Nephrology and Hypertension, Inselspital, Bern University Hospital, University of Bern, Freiburgstrasse 15, 3010, Bern, Switzerland.
Twin and genealogy studies suggest a strong genetic component of nephrolithiasis. Likewise, urinary traits associated with renal stone formation were found to be highly heritable, even after adjustment for demographic, anthropometric and dietary covariates. Recent high-throughput sequencing projects of phenotypically well-defined cohorts of stone formers and large genome-wide association studies led to the discovery of many new genes associated with kidney stones. Read More
Pediatr Clin North Am 2019 Feb;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
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
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
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
Pediatr Int 2018 Nov 2. Epub 2018 Nov 2.
Dipartimento di Pediatria, Università degli Studi di Pavia (Pavia, IT).
Background: Bartter's syndrome (BS) is a rare genetic salt-wasting renal disease characterized by hypokalemia and metabolic alkalosis, which presents with a wide phenotypic variation. Failure to thrive is a common clinical feature of BS, but growth is usually improved by an adequate treatment and correction of salt unbalance. However, some cases of growth hormone deficiency (GHD) in BS children have been described previously. Read More
Matern Child Nutr 2018 Oct;14 Suppl 3:e12649
School of Veterinary Science and School of Life and Environmental Sciences, Charles Perkins Centre, The University of Sydney, New South Wales, Australia.
Undernutrition resulting from inadequate access to high-quality, nutritious food is a widespread issue in sub-Saharan Africa impacting the health and survival of mothers and their children. Inadequate dietary intake leads to a deficiency in nutrients including calcium, required for growth and physiological functioning. This study investigated the potential of increasing dietary calcium intake by the addition of heat-treated ground eggshell to locally prepared food. Read More
J Clin Ultrasound 2018 Sep 23. Epub 2018 Sep 23.
Department of Obstetrics and Gynecology, Rambam Medical Center, Haifa, Israel.
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
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
Cancer Treat Res Commun 2018 19;14:1-6. Epub 2017 Aug 19.
Department of Environmental and Occupational Health, University of Arkansas for Medical Sciences, United States; The Winthrop P. Rockefeller Cancer Institute, University of Arkansas for Medical Sciences, United States. Electronic address:
Background: Treatment of lung cancer is evolving from the use of cytotoxic drugs to drugs that interrupt pathways specific to a malignancy. The field of metabolomics has promise with respect to identification of tumor-specific processes and therapeutic targets, but to date has yielded inconsistent data in patients with lung cancer. Lymph nodes are often aspirated in the process of evaluating lung cancer, as malignant cells in lymph nodes are used for diagnosis and staging. Read More
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
J Thorac Dis 2018 Jun;10(6):3874-3878
Division of Pulmonary and Critical Care, Interventional Pulmonary, Department of Internal Medicine, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Background: With increased availability of techniques to address pleural effusions including medical thoracoscopy (MT) and tunneled pleural catheter (TPC), we anticipate there has been an evolution in the practice pattern. We sought to evaluate the current practice patterns in the management of exudative pleural effusion in the interventional pulmonary (IP) community.
Methods: A questionnaire was developed and was disseminated to all listed American Association of Bronchology and Interventional Pulmonology (AABIP) members. Read More
J Bronchology Interv Pulmonol 2018 Jul 25. Epub 2018 Jul 25.
Division of Pulmonary and Critical Care Medicine, University of Arkansas for Medical Sciences, Little Rock, AR.
Background: When patients present with pleural effusion and structural abnormalities consistent with malignancy on imaging, the traditional approach has been to perform a thoracentesis and await the results before proceeding to more invasive diagnostic procedures. The objective of this study was to evaluate whether concurrent thoracentesis and tissue biopsy is superior to sequential sampling.
Methods: Retrospective chart review was performed for patients who had a pleural cytology from May 2014 until January 2017. Read More
Nephrol Dial Transplant 2018 Jul 2. Epub 2018 Jul 2.
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
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
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
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
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
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
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
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
J Biol Chem 2018 Jun 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
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
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
Front Med 2018 Mar 9. 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
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
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
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
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:
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
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
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
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
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
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
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
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.
N Engl J Med 2017 11;377(18):1797
University of Arkansas for Medical Sciences, Little Rock, AR
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
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
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
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
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
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
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
Zhonghua Nei Ke Za Zhi 2017 09;56(9):679-680