Approach to the patient with vitamin D-deficient osteomalacia due to X-linked agammaglobulinemia

VernacularTitle:X连锁无丙种球蛋白血症相关的维生素D缺乏性骨软化症的临诊应对
Author: Xueru CHEN ¹ ; Yixin NIU ; Weixia JIAN ; Qing SU
Author Information

1. 上海交通大学医学院附属新华医院内分泌科 200092
Keywords: Osteomalacia; Vitamin D deficiency; X-linked agammaglobulinemia
From: Chinese Journal of Endocrinology and Metabolism 2019;35(8):711-714
CountryChina
Language:Chinese
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.