Skeletal dysplasias with osteopenia in the newborn: the value of alkaline phosphatase.
Alkaline phosphatase is a commonly measured enzyme in clinical practice. Normal, excessively elevated and depressed serum or plasma levels have clinical value in the approach to the differential diagnosis of skeletal dysplasias associated with osteopenia in the newborn period. Two cases are described to illustrate this contention. In the first case we describe a neonate with congenital hypophosphatasia and markedly depressed levels of plasma alkaline phosphate, and in the second case we report a patient with a fracture of the femur, congenital rickets and an elevated alkaline phosphate level. In skeletal dysplasias with osteopenia, the nature of the abnormality in alkaline phosphate values, in association with that of calcium and phosphate, is an invaluable diagnostic aid in differential diagnosis.
Samson
Gregory R
GR
Department of Neonatal Medicine, Al Corniche Hospital, Abu Dhabi, United Arab Emirates. gregsam@emirates.net.ae
D000328:Adult; D000469:Alkaline Phosphatase / Q000097:blood* / Q000172:deficiency; D001851:Bone Diseases, Metabolic / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000196:embryology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000196:embryology; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011859:Radiography
D000469:Alkaline Phosphatase