Large D M, Mawer E B, Davies M
Metab Bone Dis Relat Res. 1984;5(5):215-8. doi: 10.1016/0221-8747(84)90061-4.
A 19-year-old Indian girl presenting with intermittent tetany, enamel hypoplasia, bilateral cataracts, and calcification of the basal ganglia is described. Dental evidence suggested a calcification defect had been present from the age of 2-3 years. Hypocalcemia, hyperphosphatemia, and low levels of immunoassayable parathyroid hormone (iPTH), urinary cAMP, 25-hydroxyvitamin D, and 1,25-dihydroxyvitamin D were documented, suggesting hypoparathyroidism with vitamin D deficiency. A bone biopsy showed osteomalacia. Following ultraviolet irradiation and oral calciferol therapy, a symptomatic and biochemical response typical of privational vitamin D deficiency occurred. iPTH levels rose to normal and remained normal following withdrawal of treatment, indicating that the clinical features were entirely due to long-standing vitamin D deficiency.
描述了一名19岁的印度女孩，她出现间歇性手足搐搦、牙釉质发育不全、双侧白内障和基底节钙化。牙科证据表明，钙化缺陷在2至3岁时就已存在。记录到低钙血症、高磷血症以及免疫测定的甲状旁腺激素（iPTH）、尿cAMP、25-羟维生素D和1,25-二羟维生素D水平低，提示甲状旁腺功能减退伴维生素D缺乏。骨活检显示骨软化症。紫外线照射和口服骨化醇治疗后，出现了典型的营养性维生素D缺乏的症状性和生化反应。iPTH水平升至正常，停药后仍保持正常，表明临床特征完全是由于长期维生素D缺乏所致。
