Ehlers-Danlos syndrome type IV: a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen.
Serum levels of procollagen type III aminopropeptide (P-III-NP), a peptide released during conversion of type III procollagen to collagen, were abnormally low in six of 10 patients with Ehlers-Danlos syndrome (EDS) type IV (arterial-ecchymotic type) and low-normal in 4. The serum P-III-NP levels correlated with the amount of type III procollagen secreted by the patients' cultured fibroblasts. Serum P-III-NP determination is a simple test that identifies a major subgroup of patients with this life-threatening, dominantly inherited connective tissue disorder and may be especially helpful in making the diagnosis in children.
Steinmann
B
B
Department of Pediatrics, University of Zürich, Switzerland.
Superti-Furga
A
A
Joller-Jemelka
H I
HI
Cetta
G
G
Byers
P H
PH
D000293:Adolescent; D000328:Adult; D002478:Cells, Cultured; D002648:Child; D004535:Ehlers-Danlos Syndrome / Q000097:blood* / Q000145:classification; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D010446:Peptide Fragments / Q000097:blood* / Q000378:metabolism; D011347:Procollagen / Q000097:blood* / Q000378:metabolism
D010446:Peptide Fragments; D011347:Procollagen; C041876:procollagen Type III-N-terminal peptide