Random Disorders

Question 1

Hypophosphatasia

Answer 1

inactivating mutations of gene that encodes tissue nonspecific Alk phos.

Features range from fetal demise, rickets/osteomalacia, dental abnormalities, multiple fractures, OP

Labs: low alkP, elevated B6, high urine phosphoethanolamine

Question 2

Osteopetrosis

Answer 2

Marble bone disease, defective osteoclast function.

Osteoclasts unable to make acidic environment and impairs resorption.

Dense, chalky, fragile bones and bone marrow replacement.

Generalized osteosclerosis