A novel compound heterozygous ROMK mutation presenting as late onset Bartter syndrome associated with nephrocalcinosis and elevated 1,25(OH)(2) vitamin D levels

Clin Exp Nephrol. 2011 Aug;15(4):572-6. doi: 10.1007/s10157-011-0431-3. Epub 2011 Mar 25.

Abstract

Bartter syndrome (BS) is a rare renal tubular disorder presenting with hypokalemic metabolic alkalosis, which is classified into five types. KCNJ1 mutations usually cause the neonatal form of BS, type II BS (OMIM 241200). However, this report concerns a female patient with a novel, compound heterozygous KCNJ1 mutation that causes late-onset BS. The unique clinical findings of this case include persistently elevated 1,25(OH)(2) vitamin D levels, possibly due to increase prostaglandin E(2) levels, and medullary nephrocalcinosis. Treatment with COX-2 inhibitors resolved her hypercalciuria and improved her height and weight; renal function remains stable and there is no progression of nephrocalcinosis.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Amino Acid Substitution
  • Bartter Syndrome / complications*
  • Bartter Syndrome / genetics
  • Base Sequence
  • Calcitriol / blood*
  • Child
  • Child, Preschool
  • Female
  • Heterozygote
  • Humans
  • Nephrocalcinosis / etiology*
  • Nephrocalcinosis / genetics
  • Pedigree
  • Potassium Channels, Inwardly Rectifying / genetics*

Substances

  • KCNJ1 protein, human
  • Potassium Channels, Inwardly Rectifying
  • Calcitriol

Supplementary concepts

  • Bartter syndrome, antenatal , type 2