Uhlig R
Monatsschr Kinderheilkd. 1981 Jul;129(7):420-2.
We report about a pair of Turkish siblings suffering from alopecia and severe rickets. In the elder sister we could show the causal role of extreme resistance of target organs to 1.25-(OH)2-cholecalciferol. The birth of a brother who developed the same symptoms together with two other similar cases in siblings recently published by other authors, made it possible to recognize the disorder as a typical syndrome-like entity, based on a hereditary defect. By successful administration of excessive (and so-far not previously published) doses of Vitamin-D3 a way for therapeutic progress in this new type of vitamin-D-dependent rickets is shown.
我们报告了一对患有脱发和严重佝偻病的土耳其兄妹。在姐姐身上,我们证实了靶器官对1,25-二羟胆钙化醇极度抵抗的致病作用。弟弟出生后也出现了相同症状,另外还有其他作者最近发表的两例兄弟姐妹类似病例,基于遗传缺陷,我们得以将这种病症识别为一种典型的综合征样疾病。通过成功给予过量(此前未发表过)的维生素D3,展示了在这种新型维生素D依赖性佝偻病中取得治疗进展的方法。