XXXX : scintigraphic studies of an affected family.

@entity5 @entity730 @entity1391 @entity460 @entity3151
@entity5 is a rare, @entity730 associated with hyperphosphataemia. A family in which seven of 13 siblings had demonstrable, clinical, radiological and pathological findings of @entity5 was evaluated. The purposes were to compare the efficacy of bone scintiscans with serum @entity3151 determination in detecting subclinical disease early in asymptomatic siblings and to assess therapeutic results in affected family members following initiation of @entity1391 depletion therapy. History, physical examination, serum @entity460 , serum @entity3151 and bone scintiscans were performed in 12 of 13 siblings. All the affected siblings had markedly elevated serum @entity3151 levels and abnormal bone scintiscans while the unaffected siblings had normal serum @entity3151 levels and normal bone scintiscans. All the siblings, affected and unaffected, were normocalcaemic. After initiation of @entity1391 depletion therapy, gross changes in the appearance of lesions were detected on bone scintiscans. Serum @entity3151 levels likewise showed a modest decline, although still remaining in the hyperphosphataemic range. In conclusion, bone scintiscans and serum @entity3151 determinations are equally sensitive in detecting subclinical disease. However, the scintiscans are helpful in assessing not only the extent of the disease, but also whole-body and regional changes following any therapeutic interventions.
