[Hypophosphatasia in an adult, with late clinical manifestations (author's transl)].
A case of hypophosphatasia with osteomalacia and subtrochanteric pseudo-fractures is described in a 53 years old woman. Bone biopsy showed an excess of osteoid. Alkaline phosphatase activities in sera were low. There was no excretion in the urine of abnormal quantities of phosphoetanolamine. But alkaline phosphatase activities were low in bone and intestine. Two sons were affected by biological hypophosphatasia without clinical features. These data support the diagnosis of minimal hypophosphatasia in an adult.
D000469:Alkaline Phosphatase / Q000032:analysis / Q000097:blood; D001842:Bone and Bones / Q000201:enzymology / Q000473:pathology; D005260:Female; D005598:Fractures, Spontaneous / Q000209:etiology; D006620:Hip Fractures / Q000209:etiology; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis* / Q000235:genetics; D007422:Intestines / Q000201:enzymology / Q000473:pathology; D007962:Leukocytes / Q000201:enzymology; D008875:Middle Aged; D010018:Osteomalacia / Q000209:etiology; D013997:Time Factors
D000469:Alkaline Phosphatase
Hypophosphatasie de l'adulte à manifestations cliniques tardives.