Increased urinary excretion of pyridinoline and deoxypyridinoline in a girl with congenital contractural arachnodactyly.
Congenital contractural arachnodactyly (CCA) is caused by mutations in the gene for fibrillin 2 glycoprotein, a component of connective tissue. The causes of osteodystrophy or osteodysplasia in CCA are unknown. We report bone metabolism in a 28 month-old girl with CCA. Serum alkaline phosphatase and osteocalcin levels were 650 IU/l and 22 ng/ml at 1.5 months old (control: 530+/-65, 16.5+/-4.3), and 580 IU/l and 21 ng/ml at 28 months old (control: 465+/-58, 15.0+/-3.5), i.e. in upper-normal levels. The urinary pyridinoline and deoxypyridinoline levels were 1176 and 194 micromol/mol creatinine at 1.5 months old (control: 329+/-76, 63+/-12), and 407 and 111 micromol/mol cr at 28 months old (control: 231+/-49, 50+/-11), apparently higher than the control values. These findings may indicate that abnormal fibrillin may impair bone metabolism and cause the osteodystrophy or osteodysplasia in CCA.
Fujisawa
Y
Y
Division of Pediatrics, Ehime Prefectural Central Hospital, Japan.
Yamashita
K
K
Nakamura
Y
Y
Kida
K
K
D000469:Alkaline Phosphatase / Q000097:blood; D000596:Amino Acids / Q000652:urine*; D001862:Bone Resorption / Q000209:etiology; D002675:Child, Preschool; D003286:Contracture / Q000097:blood / Q000151:congenital* / Q000652:urine*; D003404:Creatinine / Q000097:blood; D005260:Female; D006801:Humans; D008382:Marfan Syndrome / Q000097:blood / Q000652:urine*; D015675:Osteocalcin / Q000097:blood
D000596:Amino Acids; D015675:Osteocalcin; C015484:pyridinoline; C036020:deoxypyridinoline; D003404:Creatinine; D000469:Alkaline Phosphatase