不同类型甲状旁腺功能减退症的临床特点

Clinical characteristics of different types of hypoparathyroidism

目的分析不同类型甲状旁腺功能减退症的临床特点。方法收集2008年10月到2014年6月在内分泌代谢科住院,并首次确诊为甲状旁腺功能减退症患者的临床资料进行回顾性分析。结果 61例甲状旁腺功能减退症患者,根据病因分为3组,其中假性甲状旁腺功能减退组19例,特发性甲状旁腺功能减退组35例,术后甲状旁腺功能减退组7例。3组患者的平均发病年龄分别为(13.9±6.3)、(33.9±18.0)和(40.8±8.6)岁,假性和特发性甲状旁腺功能减退组的误诊/漏诊年限分别为(9.4±6.6)和(6.0±6.6)年,术后甲状旁腺功能减退症无误诊。92%的患者以手足搐搦、口周/肢体麻木为首发症状。初诊时平均血清甲状旁腺素(high serum parathyroid hormone,i PTH)比较,假性甲状旁腺功能减退组(29.9 pmol/L,95%CI:23.2~36.9 pmol/L)明显高于特发性甲状旁腺功能减退组(1.4 pmol/L,95%CI:0.9~2.1 pmol/L,P<0.001)和术后甲状旁腺功能减退组(1.4 pmol/L,95%CI:0.7~2.3 pmol/L,P<0.001)。假性和特发性甲状旁腺功能减退组患者与术后甲状旁腺功能减退组患者相比,具有病程更长(9.4年,95%CI:6.7~12.6年;6.0年,95%CI:4.1~8.3年vs.0.3年,95%CI:0.1~0.6年,P=0.006)、24小时尿钙水平更低(0.53 mmol/24 h,95%CI:0.26~0.80 mmol/24 h;1.52 mmol/24 h,95%CI:0.95~2.09 mmol/24 h vs.4.40 mmol/24 h,95%CI:0.77~8.01 mmol/24 h,P<0.001)、骨吸收指标[Ⅰ型胶原羧基末端肽(carboxy-terminal telopeptide of type 1 collagen,CTX)]更高(0.81μg/L,95%CI:0.45~1.17μg/L;0.54μg/L,95%CI:0.09~1.48μg/L vs.0.16μg/L,0.04~0.25μg/L,P=0.049)、颅内钙化(78.9%,60.0%vs.0%)及脑电图异常(15.3%,14.3%vs.0%)的发生率更高的临床特点。结论假性甲状旁腺功能减退症和特发性甲状旁腺功能减退症早期的误诊率和漏诊率极高。临床医师特别是非内分泌专科医师对于不明原因癫痫样发作、口周/肢体麻木、手足搐搦的患者,应该常规进行血钙、磷及甲状旁腺素(parathyroid hormone,PTH)检测,以期尽早发现假性甲状旁腺功能减退症及特发性甲状旁腺功能减退症患者,尽早处理,减少并发症的发生。

Objective To analyze the clinical characteristics of different types of hypoparathyroidism.Methods The inpatient clinical data of hypoparathyroidism patients with first diagnosis from Oct.2008 to Aug.2014 were collected and analyzed retrospectively.Results A total of 61 hypoparathyroidism patients were included and devided into three groups according to etiology,in which 19 cases were pseudo-hypoparathyroidism,35 cases were idiopathic hypoparathyroidism,and 7 cases were postoperative hypoparathyroidism.The average age of onset was （13.9±6.3）, （33.9± 18.0） and （40.8±8.6） years old.The duration of misdiagnosis and missed diagnosis in pseudo-and idiopathic hypoparathyroidism were （9.4±6.6） years and （6.0± 6.6） years,and none misdiagnosis in postoperative hypoparathyroidism.92% of these patients first episode symptoms induded tetany,perioral or limb numbness.High serum parathyroid hormone （iPTH） level was found in pseudo-hypoparathyroidism （29.9 pmol/L,95% CI： 23.2-36.9 pmol/L）,and very low level of serum PTH in idiopathic （1.4 pmol/L,95% CI： 0.9-2.1 pmol/L,P〈0.001） and postoperative hypoparathyroidism group （1.4 pmol/L,95% CI： 0.7-2.3 pmol/L,P〈0.001）.Compared with postoperative hypoparathyroidism,pseudo-and idiopathic hypoparathyroidism patients had longer course of disease （9.4 years,95% CI： 6.7-12.6 years,and 6.0 years,95% CI： 4.1-8.3 years vs.0.3 years,95% CI： 0.1-0.6 years,P = 0.006）,lower urine calcium level （0.53 mmol/24 h,95% CI： 0.26-0.80 mmol/24 h,and 1.52 mmol/24 h,95% CI： 0.95-2.09 mmol/24 h vs.4.40 mmol/24 h,95% CI： 0.77-8.01 mmol/24 h,P〈0.001）,and higher bone resorption marker,carboxy-terminal telopeptide of type 1 collagen （CTX） level （0.81 μg/L,95% CI： 0.45-1.17 μg/L,0.54 μg/L,95% CI： 0.09-1.48 μg/L vs.0.16 μg/L,0.04-0.25 μg/L,P = 0.049）; prevalence of intracranial calcification （78.9% and 60% vs.0%） and electroencephalogram abnormality （15.3% and 14.3% vs.0%） were also found in both groups.Conclusions Very high prevalence of early misdiagnosis and missed diagnosis of pseudo-or idiopathic hypoparathyroidism was found in clinical practice.Clinical physicians,especially non-endocrine doctors should give general blood calcium,phosphorus,and PTH tests when the patients had seizure,perioral or limb numbness and tetany for unknown reasons.Earlier diagnosis and treatment of pseudo-and idiopathic hypoparathyroidism have the potential to improve prognosis.