Zimmermann-Belsing T, Lund A M, Christensen L, Feldt-Rasmussen U
Department of Endocrinology, Abdominal Center, University Hospital Rigshospitalet, Copenhagen, Denmark.
J Endocrinol Invest. 1999 Jul-Aug;22(7):547-50. doi: 10.1007/BF03343607.
Osteogenesis imperfecta (OI) and hyperparathyroidism (HTP) are disorders affecting the skeletal system and calcium metabolism not evidently related to one another. We report a case in which both OI and HPT were present. Our female patient presented with hypercalcaemia (S-Ca2+ 1.59 mmol/l; normal range 1.15-1.30) and 4-gland parathyroid hyperplasia at 30 years of age. Since her first year she had fractures, blue sclera, hypermobile joints, short stature (height 1.51 m, weight 49.5 kg) but normal hearing, and dentiogenesis imperfecta (tooth disease caused by defective formation of dentin) was absent. This patient bears many similarities with the 5 patients reported previously but it is the only patient, to our knowledge, with OI and early onset of HPT (30 year old female). We have found the OI to be type 1. A minor improvement of the rate of bone turnover 10 months after parathyroidectomy indicates the HPT to be primary and suggests the OI type 1 and pHPT to be two different calcium metabolic diseases incidentally occurring in the same patient.
成骨不全症（OI）和甲状旁腺功能亢进症（HTP）是影响骨骼系统和钙代谢的疾病，彼此之间没有明显关联。我们报告了一例同时存在OI和HPT的病例。我们的女性患者在30岁时出现高钙血症（血清钙2+ 1.59 mmol/l；正常范围1.15 - 1.30）和4个甲状旁腺增生。自出生第一年起，她就有骨折、蓝色巩膜、关节活动过度、身材矮小（身高1.51米，体重49.5千克），但听力正常，且没有牙本质生成不全（由牙本质形成缺陷引起的牙齿疾病）。该患者与之前报道的5例患者有许多相似之处，但据我们所知，她是唯一一例患有OI且HPT发病较早（30岁女性）的患者。我们发现该OI为1型。甲状旁腺切除术后10个月骨转换率有轻微改善，表明HPT是原发性的，提示1型OI和pHPT是偶然发生在同一患者身上的两种不同的钙代谢疾病。
