Barttin mutations in antenatal Bartter syndrome with sensorineural deafness
Letter to the Editors
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We have observed two patients with antenatal and postnatal findings pathognomonic for antenatal Bartter syndrome (aBS). In addition, both had sensorineural deafness. This entity is known as aBS with sensorineural deafness (BSND).
The male patient had been born at 30 weeks of gestation (weight 1,360 g) to consanguineous parents. Pregnancy was complicated by severe polyhydramnios. Findings at his physical examination were normal except for a triangular face, large eyes, protruding ears, tachypnea and retractions. He rapidly developed renal salt wasting, hyper-reninemic hyperaldosteronism, hypokalemic metabolic alkalosis, and impaired renal function [creatinine (Crea) 1.5 mg/dl]. The diagnosis of antenatal Bartter syndrome (aBS) was suspected. On day 49 oral administration of indomethacin was started (2–3 mg/kg per day), which could not help to regulate serum potassium levels. Instead, upon indomethacin treatment, renal function further deteriorated (Crea...
KeywordsIndomethacin Blood Urea Nitrogen Fluid Loss Newborn Period Excessive Salt
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- 1.Birkenhäger R, Otto E, Schurmann 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 (2001) Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 29:310–314CrossRefGoogle Scholar
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