Back to Search
Start Over
Growth hormone improves growth rate and preserves renal function in Dent disease.
- Source :
-
Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2008 Mar; Vol. 21 (3), pp. 279-86. - Publication Year :
- 2008
-
Abstract
- 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.
- Subjects :
- Body Height
Calcium urine
Child
Chloride Channels genetics
Frameshift Mutation genetics
Glomerular Filtration Rate
Growth Disorders genetics
Human Growth Hormone deficiency
Humans
Hypophosphatemia, Familial etiology
Insulin-Like Growth Factor I metabolism
Kidney Function Tests
Male
Proteinuria etiology
Renal Tubular Transport, Inborn Errors genetics
Siblings
Growth Disorders drug therapy
Human Growth Hormone therapeutic use
Kidney metabolism
Renal Tubular Transport, Inborn Errors drug therapy
Subjects
Details
- Language :
- English
- ISSN :
- 0334-018X
- Volume :
- 21
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Journal of pediatric endocrinology & metabolism : JPEM
- Publication Type :
- Academic Journal
- Accession number :
- 18540256
- Full Text :
- https://doi.org/10.1515/jpem.2008.21.3.279