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Diagnosis of antenatal Bartter syndrome.
Narayan R, Peres M, Kesby G. Narayan R, et al. Clin Exp Obstet Gynecol. 2016;43(3):453-4. Clin Exp Obstet Gynecol. 2016. PMID: 27328514
Other amniotic fluid biochemical markers have been described, notably increased aldosterone levels, and low total protein levels. NOVEL INSIGHT: Antenatal Bartter syndrome is a heterogeneous group of renal disorders. ...In the setting of unexplained severe po …
Other amniotic fluid biochemical markers have been described, notably increased aldosterone levels, and low total protein levels. NOVEL INSI …
Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome.
Hernández NEG, Pérez LIE, Aguilera D, Camargo-Muñiz MD, Espinosa CFC, Jaramillo MCR, Salvador C, González ZL, Hureaux M, Vargas-Poussou R. Hernández NEG, et al. Arch Med Res. 2023 Sep;54(6):102859. doi: 10.1016/j.arcmed.2023.102859. Epub 2023 Jul 27. Arch Med Res. 2023. PMID: 37516009
Loss-of-function variants in genes encoding for five proteins expressed in the thick ascending limb of Henle in the nephron, produced different genetic types of BS. AIM: Clinical and genetic analysis of families with Antenatal Bartter syndrome (ABS) and with …
Loss-of-function variants in genes encoding for five proteins expressed in the thick ascending limb of Henle in the nephron, produced differ …
Growth hormone deficiency in children with antenatal Bartter syndrome.
Spector-Cohen I, Koren A, Sakran W, Tenenbaum-Rakover Y, Halevy R. Spector-Cohen I, et al. J Pediatr Endocrinol Metab. 2019 Mar 26;32(3):225-231. doi: 10.1515/jpem-2018-0188. J Pediatr Endocrinol Metab. 2019. PMID: 30844761
The aim of our study was to determine the prevalence of GHD in children with antenatal Bartter syndrome and to assess their response to GH therapy. Methods Ten patients aged 1.5-14.5 years and diagnosed with antenatal Bartter syndrome wer …
The aim of our study was to determine the prevalence of GHD in children with antenatal Bartter syndrome and to assess t …
Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome.
Legrand A, Treard C, Roncelin I, Dreux S, Bertholet-Thomas A, Broux F, Bruno D, Decramer S, Deschenes G, Djeddi D, Guigonis V, Jay N, Khalifeh T, Llanas B, Morin D, Morin G, Nobili F, Pietrement C, Ryckewaert A, Salomon R, Vrillon I, Blanchard A, Vargas-Poussou R. Legrand A, et al. Clin J Am Soc Nephrol. 2018 Feb 7;13(2):242-250. doi: 10.2215/CJN.05670517. Epub 2017 Nov 16. Clin J Am Soc Nephrol. 2018. PMID: 29146702 Free PMC article.
BACKGROUND AND OBJECTIVES: Mutations in the MAGED2 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 proportio …
BACKGROUND AND OBJECTIVES: Mutations in the MAGED2 gene, located on the X chromosome, have been recently detected in males with a transient …
Long-term follow-up of patients with Bartter syndrome type I and II.
Puricelli E, Bettinelli A, Borsa N, Sironi F, Mattiello C, Tammaro F, Tedeschi S, Bianchetti MG; Italian Collaborative Group for Bartter Syndrome. Puricelli E, et al. Nephrol Dial Transplant. 2010 Sep;25(9):2976-81. doi: 10.1093/ndt/gfq119. Epub 2010 Mar 10. Nephrol Dial Transplant. 2010. PMID: 20219833 Free article.

In three patients, abdominal ultrasound detected gallstones. The group of patients with antenatal Bartter syndrome had a lower renin ratio (P < 0.05) and a higher standard deviation score (SDS) for height (P < 0.05) than a previously studied group of pa

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In three patients, abdominal ultrasound detected gallstones. The group of patients with antenatal Bartter syndrome had …
Recurrent urinary tract infections in an infant with antenatal Bartter syndrome.
Tasic V, Pota L, Gucev Z. Tasic V, et al. World J Pediatr. 2011 Feb;7(1):86-8. doi: 10.1007/s12519-010-0021-6. Epub 2010 Feb 1. World J Pediatr. 2011. PMID: 20127218
In this report we present a premature female baby with antenatal Barter syndrome who had three episodes of urinary tract infection (UTI), without evidence for congenital anomaly of the kidneys or urinary tract. METHODS: antenatal Bartter syndrome was diagnose …
In this report we present a premature female baby with antenatal Barter syndrome who had three episodes of urinary tract infection (UTI), wi …
The neonatal variant of Bartter syndrome and deafness: preservation of renal function.
Shalev H, Ohali M, Kachko L, Landau D. Shalev H, et al. Pediatrics. 2003 Sep;112(3 Pt 1):628-33. doi: 10.1542/peds.112.3.628. Pediatrics. 2003. PMID: 12949294
BACKGROUND: A subtype of antenatal Bartter syndrome and sensorineural deafness (BSND) was originally described among families from southern Israel, and its gene (Barttin, OMIM #606412) has recently been identified. ...
BACKGROUND: A subtype of antenatal Bartter syndrome and sensorineural deafness (BSND) was originally described among fa …
Genetic analysis in Bartter syndrome from India.
Sharma PK, Saikia B, Sharma R, Ankur K, Khilnani P, Aggarwal VK, Cheong H. Sharma PK, et al. Indian J Pediatr. 2014 Oct;81(10):1095-8. doi: 10.1007/s12098-014-1379-6. Epub 2014 Apr 4. Indian J Pediatr. 2014. PMID: 24696311
The authors have done the genetic analysis for the first time in the Bartter syndrome on two cases from India. First case was antenatal Bartter syndrome presenting with massive polyuria and hyperkalemia. ...
The authors have done the genetic analysis for the first time in the Bartter syndrome on two cases from India. First case was antenatal …
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
Birkenhäger R, Otto E, Schürmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F. Birkenhäger R, et al. Nat Genet. 2001 Nov;29(3):310-4. doi: 10.1038/ng752. Nat Genet. 2001. PMID: 11687798
Antenatal Bartter syndrome (aBS) comprises a heterogeneous group of autosomal recessive salt-losing nephropathies. ...
Antenatal Bartter syndrome (aBS) comprises a heterogeneous group of autosomal recessive salt-losing nephropathies. ...
Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes.
[No authors listed] [No authors listed] Hum Mol Genet. 1997 Jan;6(1):17-26. doi: 10.1093/hmg/6.1.17. Hum Mol Genet. 1997. PMID: 9002665
We now describe mutations in the gene encoding the inwardly-rectifying potassium channel, ROMK, in eight kindreds with the antenatal variant of Bartter syndrome. These findings indicate that antenatal Bartter syndrome is genetically heterogeneous and provide …
We now describe mutations in the gene encoding the inwardly-rectifying potassium channel, ROMK, in eight kindreds with the antenatal variant …
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