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Rickets, osteomalacia, and osteopetrosis.

S Balsan¹, M Garabédian

¹Hôpital Necker, Paris, France.

Current Opinion in Rheumatology

|June 1, 1991

Summary

Advances in rickets and osteomalacia research include mapping vitamin D-dependency rickets to chromosome 12q14 and identifying calcitriol receptor abnormalities. New findings suggest retroviral infection or impaired macrophage colony-stimulating factor may cause osteopetrosis.

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Area of Science:

Endocrinology
Genetics
Molecular Biology

Background:

Rickets and osteomalacia are bone diseases often linked to vitamin D metabolism.
Osteopetrosis is a rare genetic disorder characterized by increased bone density.

Purpose of the Study:

To explore the genetic and molecular basis of vitamin D-resistant rickets.
To investigate potential novel etiologies for osteopetrosis.

Main Methods:

Genetic mapping of vitamin D-dependency rickets type I.
Analysis of the calcitriol receptor complex in hereditary vitamin D resistance.
Detection of reverse transcriptase activity in benign osteopetrosis.
Studying macrophage colony-stimulating factor in rodent osteopetrosis models.

Main Results:

Vitamin D-dependency rickets type I mapped to chromosome 12q14.
Abnormalities in the calcitriol receptor complex identified in hereditary vitamin D resistance.
Reverse transcriptase activity found in a benign osteopetrosis patient.
Impaired macrophage colony-stimulating factor production implicated in rodent osteopetrosis.

Conclusions:

Understanding calcitriol receptor abnormalities enhances knowledge of 1,25-dihydroxyvitamin D's physiological role.
Retroviral infection is a potential cause for some forms of osteopetrosis.
Macrophage colony-stimulating factor is crucial in the pathogenesis of osteopetrosis.

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