Shah B R, Fiordalisi I, Sheinbaum K, Finberg L
Department of Pediatrics, State University of New York, Brooklyn 11203.
Am J Dis Child. 1988 Aug;142(8):900-3. doi: 10.1001/archpedi.1988.02150080106036.
Familial glucocorticoid deficiency is a rare multisystem disorder characterized by glucocorticoid deficiency with normal mineralocorticoid activity, achalasia of the cardia, and alacrima. Familial hypophosphatemic rickets is characterized by selective renal phosphate wasting with subsequent hypophosphatemia and an inappropriately low 1,25-dihydroxyvitamin D concentration for the degree of hypophosphatemia. A 6-year-old girl with both disorders is described. A biochemical relationship between familial glucocorticoid deficiency and familial hypophosphatemic rickets could not be defined; the influence of cortisol on her serum calcium level, phosphorus level, and rickets, as well as the natural history of these two entities, is described.
家族性糖皮质激素缺乏症是一种罕见的多系统疾病，其特征为糖皮质激素缺乏但盐皮质激素活性正常、贲门失弛缓症和无泪症。家族性低磷血症性佝偻病的特征是选择性肾磷酸盐流失，随后出现低磷血症，且1,25 - 二羟维生素D浓度相对于低磷血症程度而言过低。本文描述了一名患有这两种疾病的6岁女孩。未明确家族性糖皮质激素缺乏症与家族性低磷血症性佝偻病之间的生化关系；描述了皮质醇对其血清钙水平、磷水平和佝偻病的影响，以及这两种疾病的自然病史。
