Approach to the patient with vitamin D-deficient osteomalacia due to X-linked agammaglobulinemia / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
;
(12): 711-714, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-755699
ABSTRACT
Osteomalacia is a metabolic bone disease characterized by impaired mineralization of bone matrix. VitaminD deficiency contributes to a decrease in the efficiency of intestinal calcium and phosphorus absorption, resulting in secondary hyperparathyroidism and an inadequate calcium-phosphorus product, thereby causing osteomalacia. We present a patient who was diagnosed as vitamin D-deficient osteomalacia due to X-linked agammaglobulinemia ( XLA) , and the genetic analysis of the BTK gene revealed a missense mutation ( c.82C>T) . It should be attached great importance to etiological analysis of osteomalacia, and XLA may also be a cause of vitamin D deficiency.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Endocrinology and Metabolism
Year:
2019
Type:
Article
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