Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia.

ABSTRACT:

Context

Five different activating PTH/PTH-related peptide (PTHrP) receptor (PTHR1) mutations have been reported as causes of Jansen metaphyseal chondrodysplasia (JMC), a rare disorder characterized by severe growth plate abnormalities and PTH-independent hypercalcemia.

Objectives

Assess the natural history of clinical and laboratory findings in 24 patients with JMC and characterize the disease-causing mutant receptors in vitro.

Patients and methods

The H223R mutation occurred in 18 patients. T410P, I458R and I458K each occurred in single cases; T410R was present in a father and his two sons. Laboratory records were analyzed individually and in aggregate.

Results

Postnatal calcium levels were normal in most patients, but elevated between 0.15 and 10 years (11.8

SUBMITTER: Saito H 

PROVIDER: S-EPMC6486824 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature