【作者】 王欣；

【导师】 何庆；

【作者基本信息】 天津医科大学 ， 内科学 内分泌与代谢病（专业学位）， 2018， 硕士

【摘要】 目的回顾分析不同类型甲状旁腺功能减退症(hypoparathyroidism,HPP,简称甲旁减)临床特点和并发症及其影响因素,提高临床医师对该病的认识,减少漏诊与误诊。方法回顾性分析2001年1月——2017年7月于天津医科大学总医院内分泌与代谢病科首次住院的甲状旁腺功能减退患者临床特点,分析并发症及其影响因素。结果129例甲状旁腺功能减退症患者,按照病因分为3组,假性甲状旁腺功能减退症(pseudo-hypoparathyroidism,PHP)17例,特发性甲状旁腺功能减退症(idiopathic hypoparathyroidism,IHP)82例,手术后甲状旁腺功能减退症(postsurgical hypoparathyroidism,PHypo)30例。三组患者发病年龄中位数分别为13(9.5~20)岁,26(16~42)岁,49(32~57.5)岁,P<0.001。PHP和IHP组与PHypo组相比,病程更长:[7.0(1.0~12.5)年;4.5(2.0~15.5)年vs.0.17(0.03~5.5)年,P=0.001],误诊/漏诊率更高:(35.3%;30.5%vs.0%,P<0.001)。临床症状以手足搐搦84/129(65.1%)最多见,其中PHP组阳性率最高。其他临床表现包括感觉异常、癫痫样发作、乏力、智力减退等症状及Chvostek征、Trousseau征、外胚层发育不良等体征,三组之间差异无统计学意义。实验室检查方面,PHP组与IHP和PHypo组相比,甲状旁腺素(parathyroidism,PTH)是明显升高的:[23.5(15.3~50.3)pmol/L vs.0.32(0.32~1.48)pmol/L;0.32(0.32~1.49)pmol/L,P<0.001];24h尿钙更低:[0.61(0.33~2.16)mmol/24h vs.1.88(1.02~5.17)mmol/24h;3.51(1.64~5.66)mmol/24h,P=0.003];骨转换标志物更高:骨钙素(osteocalcin,OC)(54.8±48.8 ng/ml vs.19.7±13.8 ng/ml;13.3±4.2ng/ml,P=0.003);骨形成标志物更高:总I型前胶原氨基端肽(Procollagen 1N-terminal Peptide,P1NP)(107.96±40.55 ng/ml vs.50.04±19.51 ng/ml;36.62±19.00 ng/ml,P<0.001);骨吸收标志物更高:交联胶原(crosslinked collagen,CROSSL)(1.40±0.85ng/ml vs.0.57±0.56 ng/ml;0.28±0.14ng/ml,P=0.023)。PHP和IHP组与PHypo相比,血磷更高(1.92±0.45mmol/L;1.80±0.57 mmol/Lvs.1.52±0.45 mmol/L,P=0.02)。并发症方面,IHP组与PHP和PHypo组相比,股骨颈骨密度(femoral neck bone mineral density,FNBMD)更高(1.008±0.163 g/cm2vs.0.902±0.139g/cm2;0.899±0.156g/cm2)。腰椎骨密度(lumbar spine bone mineral density,LSBMD)三者无显著差异。多重线性回归分析提示FNBMD与病程呈显著正相关,与P1NP呈负相关,LSBMD与病程呈正相关。假性、特发性、手术后甲状旁腺功能减退症三者颅内钙化的发生率分别为80.0%(12/15),44.7%(21/47),10.0%(1/10),P=0.002。二元Logistic回归分析提示病程是颅内钙化的独立危险因素,血钙是颅内钙化的保护性因素,手足搐搦的症状是颅内钙化的预测因素。三者白内障发生率差异有统计学意义,二元Logistic回归分析提示病程是白内障发生的独立危险因素。结论假性、特发性及手术后甲状旁腺功能减退症三者比较,患者一般情况、临床表现、实验室检查及并发症之间有相似之处,但程度存在差异,假性及特发性甲状旁腺功能减退症容易出现误诊及漏诊。骨密度升高、颅内钙化、白内障等并发症的出现与病程呈正相关,早期诊断,积极规律治疗是减少并发症、提高生活质量的关键。更多还原

【Abstract】 ObjectiveTo analyse the clinical characteristics of different types of hypoparathyroidism and analyse complications as well as related factors in order to deepen physicians’understanding of the disease and reduce misdiagnosis and missed diagnosis.MethodsThe inpatient clinical data of hypoparathyroidism patients first treated in Tianjin Medical University General Hospital from Jan.2001 to Jul.2017 were collected and analyzed retrospectively.ResultsA total of 129 hypoparathyroidism patients were included and devided into 3 groups according to etiology,in which 17 cases were pseudo-hypoparathyroidism(PHP),82 cases were idiopathic hypoparathyroidism(IHP),and 30 cases were postsurgical hypoparathyroidism(PHypo).The median age of onset was 13(9.5～20),26(16～42)and 49(32～57.5)years old,P<0.001.The duration of PHP and IHP were longer compared with PHypo[7.0(1.0～12.5)years;4.5(2.0～15.5)years vs.0.17(0.03～5.5)years,P=0.001].And the rate of misdiagnosis or missed diagnosis were higher(35.3%;30.5%vs.0%,P<0.001).Most patients take tetany as the first episode symptom with PHP the most prominent.Other clinical manifestations include paresthesia,seizure,fatigue,hypophrenia and Chvostek’s sign,Trousseau’s sign,ectodermal dysplasia,showing no significant difference among three groups.In the aspect of biochemical features,compared with IHP and PHypo,PHP patients had higher serum parathyroid hormone(PTH)level[23.5(15.3～50.3)pmol/L vs.0.32(0.32～1.48)pmol/L;0.32(0.32～1.49)pmol/L,P<0.001];lower urine calcium level[0.61(0.33～2.16)mmol/24h vs.1.88(1.02～5.17)mmol/24h;3.51(1.64～5.66)mmol/24h,P=0.003];higher bone turnover marker,osteocalcin(OC)level(54.8±48.8 ng/ml vs.19.7±13.8ng/ml;13.3±4.2ng/ml,P=0.003);higher bone formation marker,Procollagen 1 N-terminal Peptide(P1MP)level(107.96±40.55 ng/ml vs.50.04± 19.51 ng/ml;36.62± 19.00 ng/ml,P<0.001);higher bone resorption marker,crosslinked collagen(CROSSL)level(1.40±0.85ng/ml vs.0.57±0.56 ng/ml;0.28±0.14ng/ml,P＝ 0.023).Compared with PHypo,PHP and IHP had higher serum inorganic phosphorus level(1.92±0.45 mmol/L;1.80±0.57 mmol/L vs.1.52±0.45 mmol/L,P=0.02).As for complications,IHP patients had higher femoral neck bone mineral density(FNBMD)compared with PHP and PHypo(1.008±0.163 g/cm2 vs.0.902±0.139 g/cm2;0.899±0.156 g/cm2).No significant difference was found in lumbar spine bone mineral density(LSBMD).On multiple linear regression analysis,FNBMD showed positive association with duration(P=0.033)and inverse association with P1NP(P=0.02).LSBMD showed positive association with duration(P=0.018).Prevalence of intracranial calcification were respectively 80.0%(12/15),44.7%(21/47),10.0%(1/10),P=0.002.Through the Binary Logistic Analysis,duration of disease emerged as the independent risk factor of intracranial calcification,high serum calcium emerged as the protective factor of intracranial calcification,and tetany emerged as the predictor of intracranial calcification.In addition,duration appears to be the independent risk factor of cataract.ConclusionClinical characteristics were similar but order of severity was different among different types of hypoparathyroidism.Very high prevalence of early misdiagnosis and missed diagnosis of PHP and IHP was found in clinical practice.Complications including high BMD,intracranial calcification and cataract showed significant positive association with duration.Earlier diagnosis and regular treatment of hypoparathyroidism were the critical factors to reduce complications and improve quality of life.更多还原