Pediatr. praxi. 2013;14(2):123-125

Neonatal Bartter syndrome

MUDr.Marie Kmoníčková1, doc.MUDr.Květa Bláhová2, doc.MUDr.Štěpán Kutílek1, MUDr.Marie Zemanová1, MUDr.Vladimír Němec, Ph.D.1
1 Dětské oddělení, Pardubická krajská nemocnice, a. s.
2 Pediatrická klinika FN Motol a 2. LF UK, Praha

Bartter syndrome represents a set of closely related autosomal recessive renal tubular disorders characterized by hypokalemia, hypochloremia,

metabolic alkalosis and hyperreninemia with normal blood pressure. Advances in molecular diagnostics have revealed that Bartter

syndrome results from mutation in numerous genes that affect the function of ion channels and transporters normally mediating transepithelial

salt reabsorption in the sick ascending limb of loop of Henle. We present the case of the patient who was born in Pardubice

Hospital in June 2010. The boy was diagnosed with neonatal Bartter syndrome.

Keywords: Bartter syndrome, supplements of minerals, indomethacine therapy

Published: May 1, 2013  Show citation

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Kmoníčková M, Bláhová K, Kutílek Š, Zemanová M, Němec V. Neonatal Bartter syndrome. Pediatr. praxi. 2013;14(2):123-125.
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    References

    1. Tesař V, Schück O, a kol. Klinická nefrologie. Grada a Avicenum Praha 2006: 356-358.
    2. Amirlak, Dawson KP. Bartter syndrome: an overwiew. Q. J. Med 2000; 93: 207-215. Go to original source... Go to PubMed...
    3. Collusi G. Bartter syndrome. Orphanet encyclopedia, March 2005.
    4. Devarjan P, Craig B, Langman CB, et al. Pediatric Bartter syndrome. Medscape, November 2011.
    5. Trusetto LA. Bartter syndrome. Medscape, January 2012.
    6. Ryšavá R, Reiterová J. Hypokalémie u renálních tubulopatií. Med. pro praxi 2008; 5(4): 146-149.

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