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30.10.2019 | Clinical Quiz

Hypokalemia and hearing loss in a 3-year-old boy: Answers

verfasst von: Ozlem Yuksel Aksoy, Fatma Semsa Cayci, Serdar Ceylaner, Sibel Alicura Tokgoz, Gunay Kaplan, Umut Selda Bayrakci

Erschienen in: Pediatric Nephrology | Ausgabe 4/2020

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Excerpt

Bartter syndrome with sensorineural deafness, BS type 4

BSND (type 4a), CLCNKA and CLCNKB mutations (type 4b)

BS type 4 patients may require lifelong potassium and sodium chloride supplementation. Indomethacin has limited effects. BS type 4 is associated with chronic renal failure, which is rare in other BS types. Our patient has p.G47R mutation which causes mild renal phenotype.

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Titel: Hypokalemia and hearing loss in a 3-year-old boy: Answers
verfasst von: Ozlem Yuksel Aksoy
Fatma Semsa Cayci
Serdar Ceylaner
Sibel Alicura Tokgoz
Gunay Kaplan
Umut Selda Bayrakci
Publikationsdatum: 30.10.2019
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Nephrology / Ausgabe 4/2020
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-019-04383-8

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