摘要
目的探讨失盐型类固醇21-羟化酶缺乏症(21-OHD)的临床特点,以提高诊疗水平。方法回顾性分析64例失盐型21-OHD的临床特点、实验室检查、基因检测及治疗方法。结果 1临床症状:常见临床症状为阴蒂增大(女性)、呕吐、皮肤色素沉着。2实验室检查:100.0%(64/64)的患者血17-羟孕酮(17-OHP)增高,100.0%(46/46)血雄烯二酮(AN)增高,65.0%(26/40)血硫酸脱氢表雄酮(DHEAS)增高,59.6%(28/47)血睾酮(T)水平增高,72.1%(31/43)的患者血促肾上腺皮质激素(ACTH)增高。53.5%(23/43)的患者血皮质醇水平低下。5例行醛固酮检查的患者醛固酮明显降低[(0.11±0.07)nmol/L]。100.0%(64/64)的患者血钠水平低于135mmol/L,其中60.9%(39/64)的患者低于125mmol/L。85.9%(55/64)的患者高血钾。3基因检测:1例患者行基因检测,为CYP21A2基因内含子IVS2as-13A/C>G纯合突变,基因型与表型相一致。4治疗:57例患者给予补液,纠正电解质紊乱及酸碱失衡等对症治疗,予以氢化可的松静脉滴注,起始剂量为50~200mg/(d·m^2),3~10d,随后改为25~100mg/(d·m^2)的氢化可的松片剂,分2~3次口服。出院时有46例患儿采用糖皮质激素[氢化可的松剂量(10.29±4.22)mg/d]与盐皮质激素(氟氢可的松剂量0.025~0.1mg/d)联合治疗。11例出院后采用氢化可的松单药治疗[剂量为(18.64±2.34)mg/d]。结论 1失盐型21-OHD多在婴幼儿期发病且症状较重。2皮肤色素沉着、呕吐、女性男性化等症状以及低钠血症和高钾血症等血生化改变强烈提示失盐型21-OHD,同时血17-OHP(基础值以及快速ACTH刺激后)增高可确诊21-OHD。3CYP21A2基因检测有助于诊断和分型。4糖皮质激素替代治疗是主要治疗方法,剂量需个体化,避免用量过度。
Objective To analyze the clinical features of salt-wasting 21-hydroxylase deficiency to improve the diagnosis and therapy of this disorder.Methods The clinical data of 64 cases of salt-wasting 21-hydroxylase deficiency were retrospectively analyzed,including clinical features,results of laboratory examination and gene assay,and therapeutic methods.Results 1The common clinical symptoms of salt-wasting 21-hydroxylase deficiency included clitoromegaly（in female）,vomiting and hyperpigmentation.217-OHP levels were increased in all the patients（64/64）in this cohort,and serum AN levels elevated in 100.0% of the patients detected（46/46）.59.6% of patients（28/47）had serum testosterone levels above the normal range,and 65.0% of patients（26/40）had elevated serum DHEAS levels.There were 72.1% of patients（31/43）having elevated ACTH levels,and53.5% of patients（23/43）having low serum cortisol levels.Five patients had low serum aldosterone levels[（0.11±0.07）nmol/L].All patients（64/64）had hyponatremia,and among them,60.9%（39/64）had a serum sodium level below 125nmol/L.85.9%（55/64）had hyperkalemia.3One patient was tested for gene mutation of CYP21A2.Homozygous mutation genotype of IVS2as-13A/CG was observed and the genotype was consistent with the phenotype.4 Fifty-seven patients were given fluid infusion to correct electrolyte disturbance and acid-base imbalance.Hydrocortisone（HC）combined with normal saline was intravenously infused to the 57 patients with initial doses of HC between 50-200mg/（d·m^2）for 3-10 days,and then oral HC tablets at dosages of 25-100mg/（d·m^2）divided in 2or 3times a day instead.HC[（10.29±4.22）mg/d]combined with fludrocortisone（0.025-0.1mg/d）was given to 46 patients at discharge,and HC monotherapy[（18.64±2.34）mg/d]to 11 patients after discharge.Conclusion 1Salt-wasting 21-hydroxylase deficiency often occurs in infancy presenting with severe symptoms.2Characteristical clinical findings such as hyperpigmentation,vomiting,virilization,hyp
出处
《华中科技大学学报（医学版）》
CAS
CSCD
北大核心
2015年第6期714-717,共4页
Acta Medicinae Universitatis Scientiae et Technologiae Huazhong
