[Hypophosphatasia in adults. Apropos of 2 cases].
Two very dissimilar cases of hypophosphatemia in the adult patient are described by the authors. The first case was symptomatic since childhood, with typical clinical and radiologic findings (fissures, diaphyseal bone spurs, bony deformities), whereas the second case was minimally symptomatic (loss of teeth and back pain). Articular chondrocalcinosis was observed in both cases, as was a decrease in alkaline phosphatase and the increased urinary excretion of phosphoethanolamine. Histological examination demonstrated an increase in osteoid. Review of the literature revealed 40 cases of this inborn error of metabolism seen in adulthood, enabling a detailed description of the characteristics of this polymorphic condition.
D000328:Adult; D000469:Alkaline Phosphatase / Q000172:deficiency; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D002805:Chondrocalcinosis / Q000000981:diagnostic imaging; D004983:Ethanolamines / Q000652:urine; D005260:Female; D005598:Fractures, Spontaneous / Q000209:etiology; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics / Q000628:therapy; D008875:Middle Aged; D009066:Mouth, Edentulous / Q000209:etiology; D010018:Osteomalacia / Q000209:etiology; D011859:Radiography
D004983:Ethanolamines; C005448:phosphorylethanolamine; D000469:Alkaline Phosphatase
L'hypophosphatasie à l'âge adulte. A propos de 2 observations.