PubMed 18540256

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: ClvC4 , ClvC5 , Slo1

Title: Growth hormone improves growth rate and preserves renal function in Dent disease.

Authors: Sharone Sheffer-Babila, Manju Chandra, Phyllis W Speiser

Journal, date & volume: J. Pediatr. Endocrinol. Metab., 2008 Mar , 21, 279-86

PubMed link:

Dent disease, an X-linked recessive renal tubular disease, results from loss-of-function mutations in the CLCN5 chloride channel gene. The effects of Dent disease on growth have not been described. We report siblings who presented with proteinuria, calciuria, and phosphaturia and growth failure who responded to growth hormone (GH) treatment. Genotyping revealed a novel c.2179delG frameshift mutation at codon 727, exon 12 of the CLCNS gene. Two years after initial presentation, linear growth had slowed, and evaluation revealed isolated GH deficiency. GH therapy resulted in more than two-fold increases in height velocity and serum IGF-I levels. There was no net change in estimated glomerular filtration rate, proteinuria or calciuria in response to GH therapy, but there was a delayed improvement in phosphaturia. These cases provide insight into the effects of GH on growth and renal function in Dent disease. Furthermore, we have reported a novel CLCN5 mutation.