Rare Diseases Symptoms Automatic Extraction

C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.

[achondroplasia]

Context: C-type natriuretic peptide (CNP) is a crucial regulator of endochondral bone growth. In a previous report of a child with acromesomelic dysplasia, Maroteaux type (AMDM), due to loss-of-function of the CNP receptor (NPR-B), plasma levels of CNP were elevated. In vitro studies have shown that activation of the MEK/ERK MAP kinase pathway causes functional inhibition of NPR-B. Achondroplasia, hypochondroplasia, and thanatophoric dysplasia are syndromes of short-limbed dwarfism caused by activating mutations of fibroblast growth factor receptor-3, which result in over-activation of the MEK/ERK MAP kinase pathway. Objective: To determine if these syndromes exhibit evidence of CNP resistance as reflected by increases of plasma CNP and its amino terminal propeptide (NTproCNP). Design: This was a prospective, observational study. Subjects: Participants were 63 children and 20 adults with achondroplasia, 6 children with hypochondroplasia, 2 children with thanatophoric dysplasia, and 4 children and 1 adult with AMDM. Results: Plasma levels of CNP and NTproCNP were higher in children with achondroplasia with CNP SD scores (SDS) of 1.0 (0.3-1.4) [median (intraquartile range)] and NTproCNP SDS of 1.4 (0.4-1.8) (p<0.0005). NTproCNP levels correlated with height velocity. Levels were also elevated in adults with achondroplasia, CNP SDS 1.5 (0.7-2.1) and NTproCNP SDS 0.5 (0.1-1.0), p<0.005. In children with hypochondroplasia, CNP SDS were 1.3 (0.7-1.5)(p=0.08) and NTproCNP SDS were 1.9 (1.8-2.3)(p<0.05). In children with AMDM, CNP SDS were 1.6 (1.4-3.3) and NTproCNP SDS were 4.2 (2.7-6.2) (p<0.01). Conclusions: In these skeletal dysplasias, elevated plasma levels of proCNP products suggest the presence of tissue resistance to CNP.

Diseases presenting "elevated plasma levels of procnp products suggest the presence of tissue resistance to cnp" symptom

  • achondroplasia

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