D-vitamin-1 alpha-hydroxylase-mangel som årsag til svaer rakitis hos en etårig dreng

Signe Sparre Beck-Nielsen, Niels Thomas Hertel, Bendt Brock-Jacobsen

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Abstrakt

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.

OriginalsprogDansk
TidsskriftUgeskrift for Laeger
Vol/bind168
Udgave nummer7
Sider (fra-til)700-2
Antal sider3
StatusUdgivet - 13. feb. 2006

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Emneord

  • 25-Hydroxyvitamin D3 1-alpha-Hydroxylase
  • Calcium
  • Growth Disorders
  • Hand
  • Humans
  • Hydroxycholecalciferols
  • Infant
  • Male
  • Motor Skills
  • Rickets
  • Steroid Hydroxylases

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