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Bone

Non-neoplastic or metabolic disease

Hypophosphatasia

Reviewers: Dariusz Borys, M.D. (see Reviewers page)
Revised: 8 June 2012, last major update June 2012
Copyright: (c) 2003-2012, PathologyOutlines.com, Inc.

General
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● Rare genetic disease due to disturbance in synthesis of alkaline phosphatase
● Different disorder than hypophosphatemia

Autosomal recessive form:
● Severe disease in infants, rapidly fatal

Autosomal dominant form:
● May not be identified until adulthood
● May be asymptomatic, although associated with short stature
● Deformity of extremities, rickets-like disorder
● May cause painful periarticular calcification (J Bone Miner Metab 2011 Dec 15 [Epub ahead of print])

Laboratory description
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● Reduced levels of alkaline phosphatase in blood, bone, intestines, liver, kidney
● Normal serum calcium and phosphorus

Micro description
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Infants:
● Increased osteoid, irregular epiphyseal cartilage with lengthened chondrocyte columns

Adults:
● Osteomalacia with increased nonmineralized bone but reduced osteoblasts

End of Bone > Non-neoplastic or metabolic disease > Hypophosphatasia

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