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在英文文献中报导过16个家族中35名患家族性糖皮质激素缺乏症(FGD)病例。家族性低磷血症性佝偻病(FHR)是一种少见病,而是在营养性VitD缺乏症不发生地区最常见的佝偻病症的变异型。病例 6岁印度女孩,父母非近亲婚配围产期正常,8个月以前生长发育正常。曾疑似VitD缺乏性佝偻病,用VitD治疗无效。13个月体检发现体重和头围低于第5个百分位,身长在第15个百分位、双腕、踝突出、靠物可坐、外生殖器正常。诊断FHR的依据:X光片示佝偻病改变;空腹血磷低、血钙正常、硷性磷酸酶高、血25-(OH)D浓度正常,尿氨基酸、血电解质、尿素氮、肝功能、血糖均正常。18个月时口唇有黑色色素沉着、面色经常是黑的,3岁时因高热抽一次,3.5岁因有色素沉着疑有肾上腺功能不全。4岁
Thirty-five familial glucocorticoid deficiency (FGD) cases were reported in 16 families in English literature. Familial hypophosphatemic rickets (FHR) is a rare disease that is the most common form of rickets in areas where nocturnal VitD deficiency occurs. Case 6-year-old Indian girl, parents non-relatives marriage normal perinatal period, normal growth and development 8 months ago. Have suspected VitD deficiency rickets, treatment with VitD ineffective. 13 months physical examination found that body weight and head circumference below the 5th percentile, height in the 15th percentile, wrist, ankle, by the material can sit, the external genitalia normal. Basis for the diagnosis of FHR: X-ray showed rickets changes; fasting blood phosphorus is low, normal serum calcium, alkaline phosphatase high blood 25- (OH) D normal concentration, urinary amino acids, blood electrolytes, urea nitrogen, liver function, blood sugar All normal. 18 months when the lips have black pigmentation, complexion is often black, 3 years old due to heat pumping once, 3.5 years old due to pigmentation suspected adrenal insufficiency. 4 years