[Hypophosphatasia in adults. Report of 3 cases].
Three adult members of the same family with hypophosphatasia are described. Two of them, aged 23 and 24 yr, developed vertebral and peripheral fractures having low bone mass values and histological findings of trabecular and cortical osteoporosis with mild mineralization defects. In these two cases, the corticosteroid treatment received may have play role in the development of the symptomatic clinical picture because the third affected member of the family did not have bone mass abnormalities suffering only from early loss of teeth. Even though adult hypophosphatasia is a rare and oligosymptomatic disease, some risk factors may induce the development of osteoporosis with bone fractures.
Barreto
S
S
Unidad de Metabolismo Oseo y Mineral, Hospital Central de Asturias.
Gómez
C
C
Menéndez
P
P
Grosso
S
S
Altadill
A
A
Cannata
J B
JB
D000328:Adult; D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree