Journal
HORMONE RESEARCH IN PAEDIATRICS
Volume 82, Issue 4, Pages 222-229Publisher
KARGER
DOI: 10.1159/000365049
Keywords
Growth; Natriuretic peptide; Short stature; Tall stature; Skeletal dysplasia
Categories
Funding
- Sao Paulo Research Foundation (FAPESP) [2013/03236-5, 2011/11801-9]
- National Council for Scientific and Technological Development (CNPq) [307922/2013-8, 304678/2012-0]
Ask authors/readers for more resources
The C-type natriuretic peptide (CNP) and its receptor (NPR-B) are recognized as important regulators of longitudinal growth. Animal models involving CNP or NPR-B genes (Nppc or Npr2) support the fundamental role of CNP/NPR-B for endochondral ossification. Studies with these animals allow the development of potential drug therapies for dwarfism. Polymorphisms in two genes related to the CNP pathway have been implicated in height variability in healthy individuals. Biallelic loss-of-function mutations in NPR-B gene (NPR2) cause acromesomelic dysplasia type Maroteux, a skeletal dysplasia with extremely short stature. Heterozygous mutations in NPR2 are responsible for nonsyndromic familial short stature. Conversely, heterozygous gain-of-function mutations in NPR2 cause tall stature, with a variable phenotype. A phase 2 multicenter and multinational trial is being developed to evaluate a CNP analog treatment for achondroplasia. Pediatricians and endocrinologists must be aware of growth disorders related to natriuretic peptides, although there is still much to be learned about its diagnostic and therapeutic use. (C) 2014 S. Karger AG, Basel
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available