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      Childhood Bartter’s syndrome: An Indian case series

      case-report

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          Abstract

          This is a retrospective analysis of children diagnosed with Bartter’s syndrome (BS) between 2001 and 2009 in our hospital. Seven children (six males) were diagnosed with BS. The mean age at presentation was 6.5 ± 4.9 months. The presenting features were failure to thrive,vomiting, polyuria, and dehydration. All children were normotensive at admission. The children exhibited alkalemia (pH, 7.58 ± 0.03), hypokalemia (serum potassium, 2.62 ± 0.47 mEq/l), hypochloremia (serum chloride, 82.83 ± 16.7 mEq/l), and hyponatremia (serum sodium, 126.85 ± 3.56 mEq/l). Disproportionate urinary wasting of sodium, potassium, and chloride were seen. The diagnosis was confirmed by elevated serum levels of both renin and aldosterone with normotension. Indomethacin or ibuprofen therapy resulted in marked improvement in general condition of these children. In conclusion, a high index of suspicion should be entertained in children with failure to thrive to diagnose BS. Therapy with NSAIDs leads to marked improvement in the general well being.

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          Most cited references14

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          Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome.

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            Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.

            ABSTRACT.: Inherited hypokalemic renal tubulopathies are differentiated into at least three clinical subtypes: (1) the Gitelman variant of Bartter syndrome (GS); (2) hyperprostaglandin E syndrome, the antenatal variant of Bartter syndrome (HPS/aBS); and (3) the classic Bartter syndrome (cBS). Hypokalemic metabolic alkalosis and renal salt wasting are the common characteristics of all three subtypes. Hypocalciuria and hypomagnesemia are specific clinical features of Gitelman syndrome, while HPS/aBS is a life-threatening disorder of the newborn with polyhydramnios, premature delivery, hyposthenuria, and nephrocalcinosis. The Gitelman variant is uniformly caused by mutations in the gene for the thiazide-sensitive NaCl-cotransporter NCCT (SLC12A3) of the distal tubule, while HPS/aBS is caused by mutations in the gene for either the furosemide-sensitive NaK-2Cl-cotransporter NKCC2 (SLC12A1) or the inwardly rectifying potassium channel ROMK (KCNJ1). Recently, mutations in a basolateral chloride channel CLC-Kb (CLCNKB) have been described in a subset of patients with a Bartter-like phenotype typically lacking nephrocalcinosis. In this study, the screening for CLCNKB mutations showed 20 different mutations in the affected children from 30 families. The clinical characterization revealed a highly variable phenotype ranging from episodes of severe volume depletion and hypokalemia during the neonatal period to almost asymptomatic patients diagnosed during adolescence. This study adds 16 novel mutations to the nine already described, providing further evidence that mutations in the gene for the basolateral chloride channel CLC-Kb are the molecular basis of classic Bartter syndrome. Interestingly, the phenotype elicited by CLCNKB mutations occasionally includes HPS/aBS, as well as a Gitelman-like phenotype.
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              Molecular pathogenesis of Bartter's and Gitelman's syndromes.

              I Kurtz (1998)
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                Author and article information

                Journal
                Indian J Nephrol
                IJN
                Indian Journal of Nephrology
                Medknow Publications (India )
                0971-4065
                1998-3662
                October 2010
                : 20
                : 4
                : 207-210
                Affiliations
                Department of Nephrology, Meenakshi Mission Hospital and Research Centre, Madurai - 625 107, India
                [1 ]Department of Pediatrics, Meenakshi Mission Hospital and Research Centre, Madurai - 625 107, India
                Author notes
                Address for correspondence: Dr. K Sampathkumar, 36, Radhakrishnan Street, Bibikulam, Madurai - 625 002, India. E-mail: drksampath@ 123456gmail.com
                Article
                IJN-20-207
                10.4103/0971-4065.73455
                3008951
                21206684
                f0c17112-67e6-4e8c-8534-29ad4bd907f7
                © Indian Journal of Nephrology

                This is an open-access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Categories
                Case Report

                Nephrology
                bartter’s syndrome,indomethacin,metabolic alkalosis,childhood
                Nephrology
                bartter’s syndrome, indomethacin, metabolic alkalosis, childhood

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