Dezateux C A, Hyde J C, Hoey H M, O'Riordan J L, Spitz L, Taylor G W, Grant D B
Eur J Pediatr. 1984 Jun;142(2):135-6. doi: 10.1007/BF00445595.
We describe a girl with congenital hyperparathyroidism who presented soon after birth with respiratory distress, hypotonia, feeding difficulties, and bone deformities. Hypercalcaemia, hypophosphataemia, and raised alkaline phosphatase were present and plasma parathyroid hormone levels measured by radioassay and bioassay were raised. X-rays showed gross demineralisation with metaphyseal fractures, erosions, and sub-periostal reaction along the bones. Following surgical removal of four hyperplastic parathyroid glands and subsequent maintainance therapy with 1-alpha-hydroxycholecalciferol there has been virtually complete reversal of her bone abnormalities.
我们描述了一名患有先天性甲状旁腺功能亢进症的女孩,她出生后不久就出现了呼吸窘迫、肌张力减退、喂养困难和骨骼畸形。存在高钙血症、低磷血症和碱性磷酸酶升高,通过放射免疫测定法和生物测定法测得的血浆甲状旁腺激素水平升高。X线显示严重脱矿质,伴有干骺端骨折、侵蚀以及沿骨骼的骨膜下反应。在手术切除四个增生的甲状旁腺并随后用1-α-羟胆钙化醇进行维持治疗后,她的骨骼异常几乎完全得到了逆转。