Bartter syndrome and growth hormone deficiency: three cases

Pediatr Nephrol. 2012 Nov;27(11):2145-2148. doi: 10.1007/s00467-012-2212-y. Epub 2012 Jun 16.


Background: Bartter syndrome is a rare autosomal recessive disorder characterized by hypokalemia, salt loss, and metabolic alkalosis. Short stature is one of the clinical manifestations in these children. Although polyuria, polydipsia, hypokalemia, and salt loss may be responsible for growth retardation, the exact pathogenesis of short stature in Bartter syndrome is not known.

Case diagnosis and treatment: In this study, we present three children diagnosed as having Bartter syndrome with short stature and growth hormone (GH) deficiency. After recombinant human growth hormone therapy (rhGH), their growth velocities were improved.

Conclusions: These results indicate that GH deficiency may contribute to short stature in children with Bartter syndrome, and rhGH therapy would be an excellent adjunctive treatment for short children with this syndrome whose condition is resistant to conventional therapies in terms of growth.

Publication types

  • Case Reports
  • Twin Study

MeSH terms

  • Bartter Syndrome / blood
  • Bartter Syndrome / diagnosis
  • Bartter Syndrome / genetics*
  • Bartter Syndrome / therapy
  • Biomarkers / blood
  • Body Height / drug effects
  • Body Height / genetics*
  • Child
  • Female
  • Genetic Predisposition to Disease
  • Growth Disorders / blood
  • Growth Disorders / diagnosis
  • Growth Disorders / drug therapy
  • Growth Disorders / genetics*
  • Hormone Replacement Therapy
  • Human Growth Hormone / blood
  • Human Growth Hormone / deficiency*
  • Human Growth Hormone / therapeutic use
  • Humans
  • Male
  • Phenotype
  • Treatment Outcome


  • Biomarkers
  • Human Growth Hormone