Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Rickets is defined by a deficiency in vitamin D resulting in growth retardation and bone deformity.
The differentiation of rickets starts with vitamin D (colecalciferol) substitution when hypercalcemia is excluded. In cases where in spite of this therapy a low concentration of 1,25-dihydroxy vitamin D3 can be found and a kidney disease can be excluded a defect in 1-alpha hydroxylation can be suspected. In cases where 1,25-dihydroxy vitamin D3 is normal a vitamin D receptor defect must be taken into account.
The disease is most often caused by inadequate intake of vitamin precursors or insufficient exposure to sun light. Some rare hereditary forms are due to mutations of the vitamin D activating enzyme (type 1) or the vitamin D receptor (type 2).
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