Early clinical signs in lysosomal diseases.

Background And Aim: The lysosomal storage diseases are a group of monogenic diseases with multisystemic impairment and chronic progression induced by the deficiency of lysosomal acid hydrolases involved in the breakdown of various macromolecules. The accumulation occurs in the macrophages of the reticule-endothelial system and causes enlargement and functional impairment. The mainly involved organs are the brain, liver, spleen, bones, joints, airways, lungs, and heart.

Bone mineral density and bone turnover in Romanian children and young adults with classical 21-hydroxylase deficiency are influenced by glucocorticoid replacement therapy.

Objective: It remains controversial if glucocorticoid replacement therapy impairs bone mineral density (BMD) in young patients with 21-hydroxylase deficiency. We aimed to analyze the impact of treatment variables, phenotype and genotype on BMD and bone metabolism in these patients.

Design: Cross-sectional study.