XXXX - epidemiology, mortality and risk of complications.

@entity9474 @entity1 @entity2163 @entity410 @entity231 @entity146 @entity174 @entity281
OBJECTIVE: @entity9474 ( @entity9474 ) is caused by a mutation within the @entity2163 gene or upstream of the @entity2163 complex locus. It is characterized by target organ resistance to PTH, resulting in hypocalcaemia and hyperphosphataemia. Studies in @entity1 with @entity9474 are limited. We sought to identify all @entity1 in Denmark with @entity9474 and access their mortality data and risk of complications. DESIGN: @entity1 were identified through the Danish National @entity1 Registry and a prescription database, with subsequent validation by investigation of @entity1 charts. METHODS: For each case, three age- (  2 years) and gender-matched controls were randomly selected from the general background population. We identified a total of 60 cases, equal to a prevalence of 1  1/100 000 inhabitants. The average age at diagnosis was 13 years (range 1-62 years), and 42 were @entity1 . Only 14 @entity1 had an identified mutation in the @entity2163 gene. RESULTS: Compared with controls, @entity1 with @entity9474 had an increased risk of @entity146 (P < 0  01), @entity281 (P < 0  01), @entity410 (P < 0  01) and @entity231 (P < 0  01), whereas their risk of renal, cardiovascular, malignant disorders and @entity174 was compatible with the general background population. The same tendencies were found in a subgroup analysis in cases with genetically verified @entity9474 . CONCLUSION: @entity1 with @entity9474 have an increased risk of @entity146 , @entity281 , @entity231 and @entity410 , whereas mortality among @entity9474 @entity1 is compatible with that in the background population.
