Abstract
Epidermal growth factor (EGF) is a well characterized polypeptide factor known to be important in growth and proliferation of multiple cell types. We have described a patient (Lep Ark I) with Donahue's syndrome whose phenotypic characteristics, i.e., severe acanthosis nigricans, hirsutism, pachyderma, precocious development of teeth and breast buds, and gut hypertrophy are consistent with hypersecretion or hyperfunction of epidermal growth factor. We previously demonstrated that this patient has increased secretion of epidermal growth factor in her urine (151.9±59.4 ug EGF/gm cr compared to 26.7±4.3 ug/gm in control children) but were unable to quantify plasma concentrations at that time. We have now developed a heterologus, double antibody radioimmunoassay (RIA) based on mEGF to estimate plasma levels of EGF in human plasma. Dilutions of the patient's plasma displace 125I-EGF in a linear fashion producing a line parallel to that of the EGF standards. Mean plasma concentration levels of EGF in normal adults by this method are 4.8±1.7 (N=5) and in children 8.4±0.3 (N=5). In contrast, the mean plasma concentration of EGF in Lep Ark I is 20.2±3.3 ng/ml (N=4). Reported blood levels of EGF in humans have ranged from 273±46 pg/ml to 1.89±0.5 ng/ml. Our mean plasma concentrations for children were higher than those previously reported but were less than half the value found in Lep Ark-I. We conclude that the elevated urinary excretion of EGF in Lep Ark-I reflects hyper-secretion in this patient, thus providing a disease state for this important growth factor.
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Frindik, J., Kemp, S. & Elders, M. INCREASED EPIDERMAL GROWTH FACTOR CONCENTRATIONS IN DONAHUE'S SYNDROME (LEPRECHAUNISM). Pediatr Res 21 (Suppl 4), 212 (1987). https://doi.org/10.1203/00006450-198704010-00278
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DOI: https://doi.org/10.1203/00006450-198704010-00278