de Castro P, Collado F, Torreblanca J
An Esp Pediatr. 1979 Mar;12(3):189-98.
X-linked familial hypophosphatemic rickets (X.L.F.H.R.) is one of the D resistant rickets. The inheritance pattern is related to the X chromosome. Most constant feature is hypophosphatemia. Pathogenesis is still a subject of controversy. There are three main theories: a) An abnormal vitamin D metabolism. b) Secondary hyperparathyroidism developping as a result of the diminished calcium absorption by gut. c) A primary deffect of phosphate transport al various levels. Authors study and comment six cases of X.L.F.H.R., three of which belong to the same family. Clinical, radiological and higtological findings correspond to those of severe rickets. It is a chronic disease which affects children during growth period, giving rise to deforming bones invalidism. Treatment consists on continuous administration of oral phosphate and vitamin D.
X连锁家族性低磷血症佝偻病（X.L.F.H.R.）是抗维生素D佝偻病之一。其遗传模式与X染色体有关。最常见的特征是低磷血症。发病机制仍是一个有争议的话题。有三种主要理论：a）维生素D代谢异常。b）由于肠道钙吸收减少导致继发性甲状旁腺功能亢进。c）不同水平磷酸盐转运的原发性缺陷。作者研究并评论了6例X.L.F.H.R.病例，其中3例属于同一家族。临床、放射学和组织学检查结果与重度佝偻病相符。这是一种影响儿童生长期的慢性疾病，会导致骨骼变形和残疾。治疗方法是持续口服磷酸盐和维生素D。
