XXXX and metabolism in @entity10751 .

@entity1 @entity174 @entity10751 @entity79 @entity158 @entity1011 @entity31095 @entity14951
@entity10751 ( @entity10751 ) @entity1 suffer from @entity174 and have reduced @entity158 , which defers the diagnosis. The pathogenesis of @entity79 in @entity10751 is unknown. This study aimed to characterize bone mineral metabolism and density in @entity10751 . Seventy-nine @entity10751 @entity1 aged 8 months to 48 years (mean age 13.9 +/- 10.4 years, median 12.3) were studied. Clinical data included weight, height, bone age, weekly physical activity and history of @entity174 . @entity79 ( @entity79 ) of the lumbar spine (n = 43), femoral neck (n = 26), total hip (n = 22) and whole body (n = 15) were determined by dual-energy X-ray absorptiometry. Serum @entity14951 , osteocalcin, bone alkaline phosphatase (B-ALP), parathyroid hormone and urinary @entity31095 cross-linked type 1 collagen (NTx) were determined in 68 @entity1 and age- and sex-matched controls. Forty-two of 79 @entity1 (53%) sustained 75 @entity174 . Twenty-four of 43 @entity1 had a spine Z-score < -2.0, and 13 of 26 had a femoral neck Z-score < -2.0. Mean femoral neck @entity79 Z-score was lower in @entity1 with @entity174 compared with those without (-2.5 +/- 0.9 vs -1.5 +/- 1.0, p = 0.01). Mean body mass index (BMI) was 16 kg/m2 in prepubertal @entity1 and 18.4 kg/m2 in postpubertal @entity1 . Bone age was significantly lower than chronological age (75.5 vs 99.3 months in prepubertal @entity1 , p < 0.001; 151 vs 174 in postpubertal @entity1 , p < 0.05). NTx and osteocalcin levels were higher in @entity10751 @entity1 compared with controls (400 +/- 338 vs 303 +/- 308, BCE/mM @entity1011 p < 0.02; 90 +/- 59.5 vs 61.8 +/- 36.9 ng/ml, p < 0.001, respectively). B-ALP was lower in @entity10751 @entity1 compared with controls (44.66 +/- 21.8 vs 55.36 +/- 36.6 ng/ml, p < 0.04). Mean spine Z-score was significantly lower in physically inactive compared with active @entity1 (-3.00 +/- 1.70 vs -1.77 +/- 1.3, respectively, p = 0.05). We conclude that @entity174 in @entity10751 @entity1 are associated with reduced @entity79 . @entity10751 @entity1 have increased NTx and osteocalcin. Contributing factors include reduced BMI, failure to thrive and reduced physical activity. Preventive therapy and early diagnosis are essential.
