Bartter syndrome and growth hormone deficiency: Three siblings with a novel CLCNKB mutation

Pediatr Int. 2019 Feb;61(2):193-197. doi: 10.1111/ped.13726. Epub 2019 Feb 21.

Authors

Ilaria Brambilla¹, Dimitri Poddighe², Simona Semeria Mantelli¹, Carmen Guarracino¹, Gian Luigi Marseglia¹

Affiliations

¹ Department of Pediatrics, University of Pavia, Pavia, Italy.
² Department of Medicine, Nazarbayev University School of Medicine, Astana, Kazakhstan.

PMID: 30387909
DOI: 10.1111/ped.13726

No abstract available

Keywords: CLCNKB; Bartter syndrome; failure to thrive; growth hormone deficiency.

Publication types

Case Reports

MeSH terms

Bartter Syndrome / complications
Bartter Syndrome / genetics*
Child
Child, Preschool
Chloride Channels / genetics*
Diagnosis, Differential
Dwarfism, Pituitary / complications
Dwarfism, Pituitary / diagnosis
Dwarfism, Pituitary / genetics*
Female
Genetic Testing / methods
Growth Hormone / blood*
Growth Hormone / therapeutic use
Humans
Male
Mutation
Potassium / blood
Siblings

Substances

CLCNKB protein, human
Chloride Channels
Growth Hormone
Potassium