AI Article Synopsis
- - A 15-month-old boy experienced developmental delays and growth issues, leading to a hospital referral where tests indicated rickets.
- - He initially received oral calcium and vitamin D, showing limited improvement, and tests revealed undetectable levels of 1,25-dihydroxyvitamin D.
- - Suspecting vitamin D1alpha-hydroxylase deficiency, genetic testing confirmed a mutation in the CYP27B1 gene; treatment was switched to alphacalcidol, resulting in significant recovery.
Article Abstract
We describe a 15-month-old boy referred to the hospital because of delayed development of motor skills and growth retardation. Blood samples and X-rays of the wrists and knees revealed rickets. He was treated with oral calcium and vitamin D with modest clinical and biochemical effect. 1,25-dihydroxyvitamin D was undetectable in laboratory tests. Vitamin D1alpha-hydroxylase deficiency was suspected and confirmed by DNA analysis, which revealed a 7 bp duplication in exon 8 of the CYP27B1 gene. The treatment was changed to an activated formula of vitamin D, alphacalcidol, whereupon the clinical and biochemical symptoms rapidly improved.
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Article Synopsis
- - A 15-month-old boy experienced developmental delays and growth issues, leading to a hospital referral where tests indicated rickets.
- - He initially received oral calcium and vitamin D, showing limited improvement, and tests revealed undetectable levels of 1,25-dihydroxyvitamin D.
- - Suspecting vitamin D1alpha-hydroxylase deficiency, genetic testing confirmed a mutation in the CYP27B1 gene; treatment was switched to alphacalcidol, resulting in significant recovery.
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