Growth factor deficiency in patients with ataxia telangiectasia

Abstract

One prominent feature of patients with the autosomal recessive disease ataxia telangiectasia (AT) is somatic growth retardation. Due to their essential roles in development we examined levels of insulin-like growth factor-I (IGF-I) as well as its main binding protein (IGFBP-3) in a group of AT patients. Growth status of 19 patients was assessed by body mass index (BMI) and nutritional protocols. As suspected, BMI was low in AT patients despite adequate nutrition. Serum levels of IGF-I were found to be below the 3rd percentile in 9 (56%) out of 16 patients and of IGFBP-3 in 13 (81%) out of 16 patients. Our observations demonstrate that IGF-I and IGFBP-3 levels reflect the impaired growth status in patients with AT.

Figures

Fig. 1

Growth status of AT patients. Growth status of 19 patients with AT was assessed by body mass index (BMI). Patients were grouped as ≤ 12 years of age; > 12−18 years of age; and > 18 years of age. Results are shown as single values and median. † died during observation.

Fig. 2

Growth factors of AT patients. (a) IGF-I and (b) IGFBP-3 levels of 16 patients with AT presented as percentiles. Shaded area shows the reference intervals for healthy children and adults defined as protein levels between the 3rd the 97th percentile (Nicholsen Advantage, Bad Nauheim, Germany; Mediagnost, Reutlingen, Germany).