Pseudo-vitamin D deficiency: absence of 25-hydroxyvitamin D 1 alpha-hydroxylase activity in human placenta decidual cells

Pseudo-Vitamin D Deficiency Rickets (PDDR), an heritable defect in renal 25-hydroxyvitamin D 1 alpha-hydroxylase activity, leads to insufficient synthesis of 1 alpha, 25-dihydroxyvitamin D (calcitriol) and the early onset of severe rickets which can only be offset by replacement therapy with calcitr...

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Published inThe journal of clinical endocrinology and metabolism Vol. 80; no. 7; p. 2255
Main Authors Glorieux, F H, Arabian, A, Delvin, E E
Format Journal Article
LanguageEnglish
Published United States 01.07.1995
Subjects
25-Hydroxyvitamin D3 1-alpha-Hydroxylase - analysis
25-Hydroxyvitamin D3 1-alpha-Hydroxylase - deficiency
Adult
Calcifediol - blood
Calcitriol - blood
Decidua - enzymology
Ergocalciferols - blood
Female
Humans
Pedigree
Placenta - enzymology
Pregnancy
Rickets - blood
Rickets - enzymology
Rickets - genetics
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Summary:Pseudo-Vitamin D Deficiency Rickets (PDDR), an heritable defect in renal 25-hydroxyvitamin D 1 alpha-hydroxylase activity, leads to insufficient synthesis of 1 alpha, 25-dihydroxyvitamin D (calcitriol) and the early onset of severe rickets which can only be offset by replacement therapy with calcitriol. The nature of the underlying mutation remains unknown. Hydroxylation of 25-hydroxyvitamin D in the 1 alpha-position is not restricted to the renal tubular cells. We have previously shown that human decidual cells do produce calcitriol and that the enzyme activity was regulated by feedback mechanisms. We now demonstrate that cells isolated from the decidua of PDDR patients lack that function making them likely targets for the mutation. This suggests that the decidual and renal enzymes (or a controller of their activity) are encoded by the same gene. Thus the PDDR placenta represents a source of mutant cells for further investigation of the PDDR molecular defect.
ISSN:0021-972X
1945-7197
DOI:10.1210/jc.80.7.2255