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Bone mineral density in children, adolescents and adults with glycogen storage disease type Ia: A cross‐sectional and longitudinal study
Author(s) -
Rake J. P.,
Visser G.,
Huismans D.,
Huitema S.,
Van Der Veer E.,
Piers D. A.,
Smit G. P. A.
Publication year - 2003
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1025111220095
Subject(s) - bone mineral , medicine , osteopenia , osteoporosis , bone density , hypercalciuria , endocrinology , urology , calcium
The occurrence of (symptoms related to) osteopenia is a known complication in glycogen storage disease type Ia (GSD Ia) patients. However, only limited information is available about bone mineral density (BMD). Using dual energy x‐ray absorptiometry, we studied both cross‐sectional and longitudinal lumbar spine areal BMD (BMD areal in g/cm 2 ), areal BMD corrected for delayed bone maturation (BMD bone age in g/cm 2 ), and volumetric BMD (BMD vol in g/cm 3 ). Prepubertal GSD Ia patients ( n = 8) had normal BMD (median z ‐scores BMD areal ‐0.6, BMD bone age ‐0.5 and BMD vol ‐ 0.5), whereas adolescent patients ( n = 12) and adult patients ( n = 9) had significantly reduced BMD (BMD areal ‐2.3, BMD bone age ‐1.6, BMD vol ‐2.0, and BMD areal ‐1.9, BMD vol ‐1.5, respectively). Our longitudinal study, showing a stable BMD areal but a trend to a decrease in BMD vol in prepubertal patients during follow‐up, did not clarify whether the difference in BMD between prepubertal and adolescent/adult patients reflects a diminished accretion of BMD during childhood or reflects historica l differences in treatment. In adolescent and adult GSD Ia patients, BMD areal and BMD vol were reduced but stable during follow‐up. Especially patients with delayed bone maturation were at risk for reduced BMD. No correlation between parameters of metabolic control and BMD could be detected. Daily calcium intake was within recommended allowances ranges. Abnormal biochemical results included hypomagnesaemia (29%), hypercalciuria (34%) and reduced tubular resorption of phosphate (21%).Although the underlying pathophysiology of reduced BMD in GSD Ia remains unsolved, metabolic control should be optimized to correct as much as possible metabolic and endocrine abnormalitie s that may influence both bone matrix formation and bone mineral accretion.