» Articles » PMID: 23580805

Neonatal Bartter Syndrome Associated with Ileal Atresia and Cystic Fibrosis

Overview
Specialty Nephrology
Date 2013 Apr 13
PMID 23580805
Citations 2
Authors
Affiliations
Soon will be listed here.
Abstract

A rare case of neonatal Bartter syndrome presenting with severe hyperkalemia is reported in a preterm child born to consanguineous parents. This child also had ileal atresia, and meconium plugs were found at laparotomy. The diagnosis of cystic fibrosis was subsequently made on genetic testing. Despite full intensive care management and surgical interventions, he died of respiratory failure after 70 days. This is the first reported case of such conglomeration of pathologies in a newborn child. Second, in highlighting this case we want clinicians to be aware that a subtype of neonatal Bartter syndrome can present with initial hyperkalemia so that an erroneous diagnosis of pseudohypoaldosteronism is not made when this is seen in combination with hyponatraemia and hyperrenin hyperaldosteronism [corrected].

Citing Articles

Bartter Syndrome: A Systematic Review of Case Reports and Case Series.

Qasba R, Bucharles A, Piccoli M, Sharma P, Banga A, Kamaraj B Medicina (Kaunas). 2023; 59(9).

PMID: 37763757 PMC: 10537044. DOI: 10.3390/medicina59091638.


[Gene mutation analysis and prenatal diagnosis of a family with Bartter syndrome].

Li L, Ma N, Li X, Gong F, Du J Zhongguo Dang Dai Er Ke Za Zhi. 2016; 18(8):746-50.

PMID: 27530794 PMC: 7399506.

References
1.
. 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. Hum Mol Genet. 1997; 6(1):17-26. DOI: 10.1093/hmg/6.1.17. View

2.
Price J . The need to avoid general anaesthesia in cystic fibrosis. J R Soc Med. 1986; 79 Suppl 12:10-2. PMC: 1290119. View

3.
Riazuddin S, Anwar S, Fischer M, Ahmed Z, Khan S, Janssen A . Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. Am J Hum Genet. 2009; 85(2):273-80. PMC: 2725234. DOI: 10.1016/j.ajhg.2009.07.003. View

4.
Reinalter S, Jeck N, Brochhausen C, Watzer B, Nusing R, Seyberth H . Role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome. Kidney Int. 2002; 62(1):253-60. DOI: 10.1046/j.1523-1755.2002.00435.x. View

5.
Finer G, Shalev H, Birk O, Galron D, Jeck N, Sinai-Treiman L . Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome. J Pediatr. 2003; 142(3):318-23. DOI: 10.1067/mpd.2003.100. View