Novel mutation in the epithelial sodium channel causing type I pseudohypoaldosteronism in a patient misdiagnosed with cystic fibrosis.

Unlabelled: Cystic fibrosis (CF) is an inherited disorder with a devastating prognosis. Determination of chloride concentration in sweat has been the gold standard test for diagnosing CF for over 50 years and still remains the primary screening test. However, now that the genetic cause is known and can be studied, genetic confirmation is mandatory in every suspected patient.

Predicting the growth response of children with idiopathic growth hormone deficiency to one year of recombinant growth hormone treatment: derivation and validation of a useful method.

Patients with idiopathic growth hormone (GH) deficiency (iGHD) show a wide interindividual variability in their response to recombinant GH (rGH) therapy. Accurate growth prediction would provide clinicians a helpful tool for planning and optimizing growth promoting therapy. We develop and validate a model to predict the growth response, using accessible parameters and simple calculations.

[GHBP, IGF-1 and IGFBP-3 serum levels in familial short-statured and normal-statured children].

Background And Objective: Growth hormone binding protein (GHBP), insuline-like growth factor 1 (IGF-1) and insuline-like growth factor binding protein 3 (IGFBP-3) serum concentrations were studied in familial short-statured patients (FSS) and age-matched normal-statured subjects. The aim of the study was to ascertain whether differences in growth factors concentrations between groups could be shown and whether they may contribute to explaining the different patterns of growth in both groups.

Subjects And Method: Serum samples of 38 FSS patients (20 boys) and 31 normal-statured subjects (15 boys) in Tanner I stage (prepubertal), were analysed in a central laboratory.