Bartter syndrome: benefits and side effects of long-term treatment

Vaisbich, María Helena; Fujimura, Maria Danisi; Koch, Vera H.

doi:10.1007/s00467-004-1527-8

Cited by 85 publications

(60 citation statements)

References 21 publications

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“…However, even though it decreased to 0.15 g/d after indomethacin withdrawal, it had increased to a maximum of 2.14 g/d three months later: our data therefore do not support the hypothesis regarding antiprostaglandin drugs. Furthermore, two recent papers regarding possible side effects in patients receiving long-term indomethacin treatment made no mention of proteinuria (25,26).…”

Section: Clcnkb/slc12a3 Mutations In Cbsmentioning

confidence: 99%

Simultaneous Mutations in the CLCNKB and SLC12A3 Genes in Two Siblings with Phenotypic Heterogeneity in Classic Bartter Syndrome

Bettinelli¹,

Borsa

Syrén

et al. 2005

Pediatr Res

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Two siblings (brother and sister) with renal tubular hypokalemic alkalosis underwent clinical, biochemical and molecular investigations. Although the biochemical findings were similar (including hypokalemia, metabolic alkalosis, hyperreninemia, hyperaldosteronism and normal blood pressure), the clinical findings were different: the boy, who also presented syndromic signs, developed glomerular proteinuria and renal biopsy revealed focal segmental glomerular sclerosis; the girl showed the typical signs of classic Bartter syndrome. As described in a previous paper, a heterozygous mutation (frameshift 2534delT) was demonstrated in the gene encoding the thiazide-sensitive NaCl co-transporter (SLC12A3) of the distal convoluted tubule; the second molecular analysis revealed a compound heterozygous mutation (A61D/V149E) in the CLCNKB chloride channel gene in both subjects, inherited in trans from the parents. The children were finally diagnosed as having classic Bartter syndrome. These cases represent the first report of the simultaneous presence of heterozygous and compound heterozygous mutations in the SLC12A3 and CLCNKB genes, both of which are involved in renal salt losing tubulopathies, and confirm previous observations regarding classic Bartter syndrome phenotype variability in the same kindred. Bartter syndromes are inherited disorders characterized by hypokalemia, metabolic alkalosis, hyperreninemic-hyperaldosteronism and renal salt wasting in the presence of normal blood pressure that have at least three different phenotypes: a) antenatal Bartter syndrome (aBS) [OMIM 241200 and 601678] that is characterized by polyhydramnios, premature delivery, a failure to thrive, hypercalciuria and nephrocalcinosis (1), and may be caused by genetic variants in the genes encoding the luminal Na-K-2Cl co-transporter (2) and the ROMK potassium channel (3); b) the Bartter syndrome associated with sensorineural deafness [OMIM 602522] (4), in which the defects reside in the BSND gene (5); and c) classic Bartter syndrome (cBS) [OMIM 607364] which usually onsets in the first year of life.The main findings in cBS are a failure to thrive and marked salt wasting, and there may be nephrocalcinosis and hypercalciuria (6). The causative mutations are located in the CLCNKB gene encoding the basolateral chloride channel (ClC-Kb) (6,7), which is located in the thick ascending limb of Henle's loop (TAL) and the distal tubule (DCT) (7). The characteristics of cBS are similar to those observed during combined thiazide and furosemide treatments (8).Gitelman syndrome (GS) [OMIM 263800] is a different form of inherited hypokalemic metabolic alkalosis that usually onsets during childhood but may also emerge in adult life (9). It is characterized by hypomagnesemia and hypocalciuria, muscle weakness and tetanic crises, and its phenotype is due to mutations in the gene encoding the thiazide-sensitive NaCl co-transporter (SLC12A3) expressed in the DCT (10,11). Unlike cBS, GS resembles the effect of long-term thiazide administration alone (8).The over...

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Section: Clcnkb/slc12a3 Mutations In Cbsmentioning

confidence: 99%

Simultaneous Mutations in the CLCNKB and SLC12A3 Genes in Two Siblings with Phenotypic Heterogeneity in Classic Bartter Syndrome

Bettinelli¹,

Borsa

Syrén

et al. 2005

Pediatr Res

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“…Bartter's syndrome type 2 is due to a mutation in ROMK gene (renal outer medullary potassium channel gene) that encodes ATP sensitive potassium channels disrupting the regulation of potassium in the tubular lumen (9). Bartter syndrome type 3 is a salt losing tubulopathy due to a mutation on chromosome 1 that encodes for Barttin and renders only kidney-specific chloride channel B (ClCKB) non-functional (10 (15,17). Rofecoxib can also be administered in patients, refractory to indomethacin treatment (18).…”

Section: Discussionmentioning

confidence: 99%

A unique finding of normal aldosterone level in Bartter’s syndrome

Raina¹,

Chaturvedi²,

Polaconda³

et al. 2017

J Nephropathol

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“…Hastaların çoğu indometazin ve KCl tedavisinden fayda görmektedir (9,10). İndometazinden fayda görmeyen BS'li hastalarda rofecoxib (selektif siklooksijeaz-2 inhibitörü) ile başarılı sonuçlar alındığı bildirilmiştir (11,12). Potasyum kaybını azaltmak için kullanılan spironolakton ile hiperkalsiüri ve nefrokalsinozisin daha da arttığı görülmüştür (5).…”

Section: Discussionunclassified

Neonatal Bartter Sendromu: Bir Yenidoğan Olgusu

Özdemir¹,

Küçüktaşçi²,

Özdemir³

et al. 2014

jpr

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ABS TRACTNeonatal Bartter syndrome (BS) is an inherited renal tubular disorder characterized with normal blood pressure, hypokalemia, hypochloremic metabolic alkalosis, hyperreninemia and increased urinary loss of sodium, potassium and chloride. In this disorder complications such as severe dehydration episodes, recurrent vomiting, hypercalciuria, and subsequently nephrocalcinosis, growth and development retardations. Herein, we reported a premature infant with neonatal BS, who successfully treated by oral indomethacin and potassium supplements without any complications.

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Bartter syndrome: benefits and side effects of long-term treatment

Cited by 85 publications

References 21 publications

Simultaneous Mutations in the CLCNKB and SLC12A3 Genes in Two Siblings with Phenotypic Heterogeneity in Classic Bartter Syndrome

Simultaneous Mutations in the CLCNKB and SLC12A3 Genes in Two Siblings with Phenotypic Heterogeneity in Classic Bartter Syndrome

A unique finding of normal aldosterone level in Bartter’s syndrome

Neonatal Bartter Sendromu: Bir Yenidoğan Olgusu

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