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指南共识 l 2018美国ES临床实践指南:21羟化酶缺陷症所致CAH-1/13-摘要和推荐**

 CK医学Pro 2020-09-14


2018美国ES临床实践指南

21羟化酶缺陷症所致CAH

CK全文译本


内容:

  1. 摘要和推荐清单

  2. 介绍和委托进行的系统评价

  3. 新生儿筛查

  4. 产前治疗CAH

  5. CAH的诊断

  6. 经典CAH的治疗

  7. 治疗NCCAH

  8. CAH患者的长期管理

  9. 通过CAH个体手术恢复功能性解剖

  10. 实验疗法和未来方向

  11. 心理健康

  12. 未来研究的目标

  13. 方法学和资源


一、摘要和推荐


摘要

Abstract


目的

更新由(美国)内分泌学会于2010年发表的21-羟化酶缺乏症所致的先天性肾上腺增生的临床实践指南。

结论

编写委员会根据已发表的证据和专家意见,并考虑患者安全,生活质量,成本和使用情况,提供有关先天性肾上腺增生临床管理的最新最佳实践指南。


推荐清单:

List  ofRecommendtions


新生儿筛查

Newborn screening


成本效益

Cost-effectiveness

1.1 我们推荐所有新生儿筛查项目都应整合21-羟化酶缺陷所致CAH的筛查。 (1 |⊕⊕⊕○)

1.1 We recommend that all newborn screening programs incorporate screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (1|⊕⊕⊕○)

1.2 我们推荐第一层筛选使用常规技术检测17-羟孕酮的标准化方法,并按照孕龄分层标准。 (1 |⊕⊕⊕○)

1.2 We recommend that first-tier screens use 17-hydroxyprogesterone assays standardized to a common technology with norms stratified by gestational age. (1|⊕⊕⊕○)

技术评论:临床医生应该意识到免疫测定仍在使用,并且仍然是假阳性结果的来源。通过有机萃取可以改善特异性以除去交叉反应物。

1.3 我们推荐筛查实验室采用液相色谱 - 串联质谱用于二级筛选,此方法应优先于所有其他方法(如基因分型),以提高CAH筛查的阳性预测价值。 (1 |⊕⊕○○)

1.3 We recommend that screening laboratories employ a second-tier screen by liquid chromatography–tandem mass spectrometry in preference to all other methods (e.g., genotyping) to improve the positive predictive value of congenital adrenal hyperplasia screening. (1|⊕⊕○○)

技术评论:利用液相色谱 - 串联质谱的实验室应参与适当的质量保证计划。此外,临床医生应该意识到免疫测定会导致更多的假阳性结果。因此,如果实验室资源不包括液相色谱 - 串联质谱,应在开始皮质类固醇治疗前进行ACTH刺激试验以确认诊断


产前治疗CAH

Prenatal treatment of congenital adrenal hyperplasia


2.1 我们建议(advise)临床医生继续将产前治疗视为实验性治疗。因此,我们不推荐特定的治疗方案。 (未分级的良好实践声明)

2.1 We advise that clinicians continue to regard prenatal therapy as experimental. Thus, we do not recommend specific treatment protocols. (Ungraded Good Practice Statement)

2.2 在胎儿有CAH症风险的孕妇和正在考虑进行产前治疗的孕妇,我们推荐只能通过机构审查委员会批准的方案,在能够收集足够大量患者的结果的中心进行产前治疗,以便可以更精确地定义风险和收益。 (1 |⊕⊕⊕○)

2.2 In pregnant women at risk for carrying a fetus affected with congenital adrenal hyperplasia and who are considering prenatal treatment we recommend obtaining prenatal therapy only through protocols approved by Institutional Review Boards at centers capable of collecting outcomes from a sufficiently large number of patients, so that risks and benefits can be defined more precisely. (1|⊕⊕⊕○)

2.3 我们建议(advise)产前治疗的研究方案包括对母体血液中Y-染色体DNA进行遗传筛查,以排除潜在治疗组的男性胎儿。 (未分级的良好实践声明)

2.3 We advise that research protocols for prenatal therapy include genetic screening for Y-chromosomal DNA in maternal blood to exclude male fetuses from potential treatment groups. (Ungraded Good Practice Statement)


先天性肾上腺皮质增生的诊断

Diagnosis of congenital adrenal hyperplasia


3.1 对于CAH新生儿筛查阳性的婴儿,我们推荐转诊给儿科内分泌科医生(如果在区域内有),并根据需要采用ACTH(cosyntopin)刺激测试进行评估。 (1 |⊕⊕⊕○)

3.1 In infants with positive newborn screens for congenital adrenal hyperplasia we recommend referral to pediatric endocrinologists (if regionally available) and evaluation by cosyntropin stimulation testing as needed. (1|⊕⊕⊕○)

3.2 在婴儿期的有症状个体中,我们推荐通过液相色谱 - 串联质谱法在早晨(早上8点之前)检测基线血清17-羟孕酮进行筛查。 (1 |⊕⊕⊕○)

3.2 In symptomatic individuals past infancy, we recommend screening with an early-morning (before 8 AM) baseline serum 17-hydroxyprogesterone measurement by liquid chromatography–tandem mass spectrometry. (1|⊕⊕⊕○)

3.3 对于具有临界17-羟孕酮水平的个体,我们推荐在进行ACTH(cosyntropin)刺激试验后获得完整的肾上腺皮质分泌情况,以鉴别21-羟化酶缺陷与其他酶缺陷。 (1 |⊕⊕⊕○)

3.3 In individuals with borderline 17-hydroxyprogesterone levels, we recommend obtaining a complete adrenocortical profile after a cosyntropin stimulation test to differentiate 21-hydroxylase deficiency from other enzyme defects. (1|⊕⊕⊕○)

3.4 在CAH个体中,我们建议仅在ACTH(cosyntropin)刺激试验后肾上腺皮质分泌的结果仍不明确,或不能准确地进行ACTH(cosyntropin)刺激(即已接受糖皮质激素的患者),或以遗传咨询的目的时,进行基因分型。 (2 |⊕⊕⊕○)

3.4 In individuals with congenital adrenal hyperplasia, we suggest genotyping only when results of the adrenocortical profile after a cosyntropin stimulation test are equivocal, or cosyntropin stimulation cannot be accurately performed (i.e., patient receiving glucocorticoid), or for purposes of genetic counseling. (2|⊕⊕⊕○)

技术评论:由于CYP21A2基因座的复杂性,基因分型至少有一个亲本有助于解释基因检测结果。


治疗经典型先天性肾上腺皮质增生症

Treatment of classic congenital adrenal hyperplasia


4.1 在患有经典型CAH的成长个体中,我们推荐使用氢化可的松进行维持治疗。 (1 |⊕⊕⊕○)

4.1 In growing individuals with classic congenital adrenal hyperplasia, we recommend maintenance therapy with hydrocortisone. (1|⊕⊕⊕○)

4.2 在CAH的成长个体中,我们建议不要使用口服氢化可的松悬液,以及不要长期使用长效强效糖皮质激素。 (1 |⊕⊕⊕○)

4.2 In growing individuals with congenital adrenal hyperplasia, we recommend against the use of oral hydrocortisone suspension and against the chronic use of long-acting potent glucocorticoids. (1|⊕⊕⊕○)

4.3 在新生儿和婴儿早期,我们推荐在治疗方案中使用氟氢可的松和氯化钠补充剂。 (1 |⊕⊕⊕○)

4.3 In the newborn and in early infancy, we recommend using fludrocortisone and sodium chloride supplements to the treatment regimen. (1|⊕⊕⊕○)

4.4 对于患有经典型CAH成人,我们推荐每日使用氢化可的松和/或长效糖皮质激素联合盐皮质激素,如有临床指征。 (1 |⊕⊕⊕○)

4.4 In adults with classic congenital adrenal hyperplasia, we recommend using daily hydrocortisone and/or long-acting glucocorticoids plus mineralocorticoids, as clinically indicated. (1|⊕⊕⊕○)

4.5 在所有患有经典型CAH个体中,我们推荐监测糖皮质激素过量的征象,以及雄激素正常化不足的征象,以优化肾上腺类固醇治疗的情况。 (1 |⊕⊕⊕○)

4.5 In all individuals with classic congenital adrenal hyperplasia, we recommend monitoring for signs of glucocorticoid excess, as well as for signs of inadequate androgen normalization, to optimize the adrenal steroid treatment profile. (1|⊕⊕⊕○)

4.6 在所有患有经典型CAH个体中,我们推荐监测盐皮质激素缺乏或过量的症状。 (1 |⊕⊕⊕○)

4.6 In all individuals with classic congenital adrenal hyperplasia, we recommend monitoring for signs of mineralocorticoid deficiency or excess. (1|⊕⊕⊕○)

应激剂量

Stress dosing

4.7 在所有需要糖皮质激素治疗的CAH患者中,对于发热性疾病(> 38.5°C),伴有脱水的胃肠炎,伴有全身麻醉的大手术和严重创伤等情况,我们推荐增加糖皮质激素剂量。 (1 |⊕⊕⊕○)

4.7 In all patients with congenital adrenal hyperplasia who require glucocorticoid treatment, for situations such as febrile illness (>38.5°C), gastroenteritis with dehydration, major surgery accompanied by general anesthesia, and major trauma we recommend increasing the glucocorticoid dosage. (1|⊕⊕⊕○)

4.8 CAH患者,对于在日常精神应激和情绪应激,以及轻微疾病和/或常规体育锻炼之前,我们推荐不要增加糖皮质激素剂量。 (1 |⊕⊕○○)

4.8 In patients with congenital adrenal hyperplasia under everyday mental and emotional stress and minor illness and/or before routine physical exercise we recommend against the use of increased glucocorticoid doses. (1|⊕⊕○○)

4.9 对于需要治疗的CAH患者,我们推荐始终佩戴或携带医学证明,表明他们患有肾上腺皮质功能不全。 (1 |⊕⊕⊕○)

4.9 In patients with congenital adrenal hyperplasia who require treatment, we recommend always wearing or carrying medical identification indicating that they have adrenal insufficiency. (1|⊕⊕⊕○)

4.10 对于CAH患者,我们推荐对患者及其监护人,以及密切接触者进行肾上腺危象预防教育,并在并发疾病期间增加糖皮质激素(但不是盐皮质激素)的剂量。 (1 |⊕⊕⊕○)

4.10 In patients with congenital adrenal hyperplasia, we recommend educating patients and their guardians and close contacts on adrenal crisis prevention and increasing the dose of glucocorticoid (but not mineralocorticoid) during intercurrent illness. (1|⊕⊕⊕○)

4.11 我们推荐为每位CAH患者配备糖皮质激素注射试剂盒,以备紧急情况下使用,并提供有关紧急糖皮质激素的肠外自我给药(年轻成人和老年人)的教育,或针对监护人(父母或监护人)的教育。 (1 |⊕⊕⊕○)

4.11 We recommend equipping every patient with congenital adrenal hyperplasia with a glucocorticoid injection kit for emergency use and providing education on parenteral self-administration (young adult and older) or lay administration (parent or guardian) of emergency glucocorticoids. (1|⊕⊕⊕○)

治疗检测

Monitoring therapy

4.12 对于年龄≤18个月的CAH患者,我们推荐在出生后的前3个月密切监测,此后每3个月进行一次密切监测。 18个月后,我们推荐每4个月进行一次评估。 (1 |⊕⊕○○)

4.12 In patients ≤18 months with congenital adrenal hyperplasia, we recommend close monitoring in the first 3 months of life and every 3 months thereafter. After 18 months, we recommend evaluation every 4 months. (1|⊕⊕○○)

4.13 在患有CAH的儿科患者中,我们推荐定期评估生长速度、体重、血压以及体格检查,同时进行生化检测以评估糖皮质激素和盐皮质激素(替代)的充分性。 (1 |⊕⊕○○)

4.13 In pediatric patients with congenital adrenal hyperplasia, we recommend conducting regular assessments of growth velocity, weight, blood pressure, as well as physical examinations in addition to obtaining biochemical measurements to assess the adequacy of glucocorticoid and mineralocorticoid. (1|⊕⊕○○)

4.14 对于2岁以下CAH儿科患者,我们建议(advise)每年进行骨龄评估,直至达到接近成人身高。 (未分级的良好实践声明)?

4.14 In pediatric patients with congenital adrenal hyperplasia under the age of 2 years, we advise annual bone age assessment until near-adult height is attained. (Ungraded Good Practice Statement)

4.15 对于CAH成年人,我们推荐进行年度体检,包括评估血压、体重指数和库欣样特征,以及进行生化检测以评估糖皮质激素和盐皮质激素替代的充分性。 (1 |⊕⊕○○)

4.15 In adults with congenital adrenal hyperplasia, we recommend annual physical examinations, which include assessments of blood pressure, body mass index, and Cushingoid features in addition to obtaining biochemical measurements to assess the adequacy of glucocorticoid and mineralocorticoid replacement. (1|⊕⊕○○)

4.16 对于CAH成年人,我们推荐根据服药计划和时间相一致的激素检测来监测治疗。 (1 |⊕⊕○○)

4.16 In adults with congenital adrenal hyperplasia, we recommend monitoring treatment through consistently timed hormone measurements relative to medication schedule and time of day. (1|⊕⊕○○)

4.17 在CAH成人中,我们推荐临床医生不要完全抑制内源性肾上腺类固醇分泌,以防止过度治疗的不良反应。 (1 |⊕⊕⊕○)

4.17 In adults with congenital adrenal hyperplasia, we recommend that clinicians do not completely suppress endogenous adrenal steroid secretion to prevent adverse effects of over treatment. (1|⊕⊕⊕○)


治疗非经典型先天性肾上腺皮质增生症

Treatment of nonclassic congenital adrenal hyperplasia


5.1 在儿童或青少年非经典CAH中,对于不适当提前和快速进展的阴毛早现,骨龄快速进展,以及明显男性化,我们推荐应用糖皮质激素治疗非经典先天性肾上腺增生。 (2 |⊕⊕○○)

5.1 In children and adolescents with inappropriately early onset and rapid progression of pubarche or bone age and in adolescent patients with overt virilization we suggest glucocorticoid treatment of nonclassic congenital adrenal hyperplasia. (2|⊕⊕○○)

技术评论:糖皮质激素治疗的风险和益处应与患者家属一起考虑和讨论。

5.2 在非经典CAH的无症状非妊娠患者中,我们推荐不要使用糖皮质激素治疗。 (1 |⊕⊕⊕○)

5.2 In asymptomatic nonpregnant individuals with nonclassic congenital adrenal hyperplasia we recommend against glucocorticoid treatment. (1|⊕⊕⊕○)

5.3 在已经治疗的非经典CAH患者中,我们建议在达到成人身高或其他症状消退时,给予停止治疗的选择。 (2 |⊕⊕⊕○)

5.3 In previously treated patients with nonclassic congenital adrenal hyperplasia we suggest giving the option of discontinuing therapy when adult height is attained or other symptoms resolve. (2|⊕⊕⊕○)

5.4 对于非经典型CAH的成年女性,如同时有患者顾虑(patient-important )的雄激素过多症或不孕症,我们建议使用糖皮质激素治疗。 (2 |⊕⊕○○)

5.4 In adult women with nonclassic congenital adrenal hyperplasia who also have patient-important hyperandrogenism or infertility we suggest glucocorticoid treatment. (2|⊕⊕○○)

5.5 在大多数非经典型CAH的成年男性中,我们建议临床医生通常情况下不给予每日的糖皮质激素治疗。 (2 |⊕○○○)

5.5 In most adult males with nonclassic congenital adrenal hyperplasia, we suggest that clinicians generally not prescribe daily glucocorticoid therapy. (2|⊕○○○)

技术评论:例外包括不孕症、睾丸肾上腺残余瘤或肾上腺肿瘤,以及介于经典和非经典表型之间的表型。

5.6 对于非经典型CAH患者,我们建议仅在患者对ACTH(cosyntropin)刺激下的皮质醇反应不理想(<14至18μg/dL,<400-500 nmol/L)或医源性肾上腺抑制时,对大手术、创伤或分娩情况给予氢化可的松的应激剂量。 (2 |⊕○○○)

5.6 In patients with nonclassic congenital adrenal hyperplasia, we suggest hydrocortisone stress dosing for major surgery, trauma, or childbirth only if a patient has a suboptimal (<14 to 18 μg/dL, <400 to 500 nmol/L) cortisol response to cosyntropin or iatrogenic adrenal suppression. (2|⊕○○○)

技术评论:由于新的皮质醇测定具有更高的特异性,一个皮质醇的切点范围已经给出(见下文)


CAH患者长期治疗

Long-term management of patients with CAH


过渡到成人治疗

Transition to adult care

6.1 在CAH青少年患者中,我们建议在退出儿科内分泌(管理)之前几年,即开始向成人治疗过渡。 (2 |⊕○○○)

6.1 In adolescent patients with congenital adrenal hyperplasia, we suggest that the transition to adult care begins several years prior to dismissal from pediatric endocrinology. (2|⊕○○○)

技术评论:我们建议在此过渡期间由儿科、生殖和成人内分泌学家和泌尿科医生组成的联合诊所(进行管理)。

6.2 在CAH青春期女性中,我们建议进行妇科病史收集和检查,以确保功能性女性解剖结构(正常),无阴道狭窄或月经异常。 (2 |⊕⊕○○)

6.2 In adolescent females with congenital adrenal hyperplasia, we suggest a gynecological history and examination to ensure functional female anatomy without vaginal stenosis or abnormalities in menstruation. (2|⊕⊕○○)

遗传咨询

Genetic counseling

6.3 对于CAH儿童、向成人治疗过渡阶段的CAH青少年,成人诊断的非经典型CAH,以及计划怀孕的CAH伴侣,我们推进熟悉CAH的医疗专业人员提供遗传咨询。 (1 |⊕⊕○○)

6.3 In children with congenital adrenal hyperplasia, adolescents transitioning to adult care, adults with nonclassic congenital adrenal hyperplasia upon diagnosis, and partners of patients with congenital adrenal hyperplasia who are planning a pregnancy, we recommend that medical professionals familiar with congenital adrenal hyperplasia provide genetic counseling. (1|⊕⊕○○)

生育咨询

Fertility counseling

6.4 对于患有CAH及生育能力受损的个体,我们建议转诊给生殖内分泌学家和/或生育专家。 (2 |⊕⊕○○)

6.4 In individuals with congenital adrenal hyperplasia and impaired fertility we suggest referral to a reproductive endocrinologist and/or fertility specialist. (2|⊕⊕○○)

妊娠期CAH和非经典CAH的处理

Management of CAH and nonclassic CAH during pregnancy

6.5 对于非经典CAH但不育或有先前流产史的女性,我们推荐使用不通过胎盘的糖皮质激素治疗。 (1 |⊕⊕○○)

6.5 In women with nonclassic congenital adrenal hyperplasia who are infertile or have a history of prior miscarriage, we recommend treatment with a glucocorticoid that does not traverse the placenta. (1|⊕⊕○○)

6.6 对于怀孕的CAH女性,我们建议(advise)由熟悉CAH的内分泌科医生进行管理。 (未分级的良好实践声明)

6.6 In women with congenital adrenal hyperplasia who are pregnant, we advise management by an endocrinologist familiar with congenital adrenal hyperplasia. (Ungraded Good Practice Statement)

6.7 对于怀孕的CAH女性,我们推荐继续使用氢化可的松/泼尼松龙和氟氢可的松治疗,如果出现糖皮质激素不足的症状和体征,可以调整剂量。 (1 |⊕⊕○○)

6.7 In women with congenital adrenal hyperplasia who become pregnant we recommend continued prepregnancy doses of hydrocortisone/prednisolone and fludrocortisone therapy, with dosage adjustments if symptoms and signs of glucocorticoid insufficiency occur. (1|⊕⊕○○)

技术评论:临床医生应评估在妊娠中期或妊娠晚期增加糖皮质激素的需要,并在分娩和分娩期间给予应激剂量的糖皮质激素。

6.8 对于怀孕或备孕的CAH女性,我们推荐不要使用可透过胎盘的糖皮质激素,如地塞米松。 (1 |⊕⊕○○)

6.8 In women with congenital adrenal hyperplasia who are pregnant, or trying to become pregnant, we recommend against using glucocorticoids that traverse the placenta, such as dexamethasone. (1|⊕⊕○○)

6.9 对于怀孕的CAH女性,我们建议(advise)分娩计划需包括产科专家。 (未分级的良好实践声明)

6.9 In women with congenital adrenal hyperplasia who are pregnant, we advise that the birthing plan includes an obstetric specialist. (Ungraded Good Practice Statement)

CAH长期并发症的监测及治疗

Surveillance for long-term complications of CAH and its treatment

6.10 对于CAH患者,我们建议在早期就健康的生活方式选择进行咨询,以保持体重指数在正常范围内,及避免代谢综合征和相关的并发症。 (2 |⊕○○○)

6.10 For patients with congenital adrenal hyperplasia, we suggest introducing counseling regarding healthy lifestyle choices at an early age to maintain body mass index within the normal range to avoid metabolic syndrome and related sequelae. (2|⊕○○○)

6.11 在CAH成年患者中,我们建议在长期高于平均糖皮质激素剂量治疗的任何患者,或非创伤性骨折患者中,筛查骨(矿物质)密度。 (2 |⊕○○○)

6.11 In adult patients with congenital adrenal hyperplasia, we suggest screening of bone mineral density in anyone subjected to a prolonged period of higher-than-average glucocorticoid dosing, or who has suffered a nontraumatic fracture. (2|⊕○○○)

6.12 对于经典型CAH成年人,我们推荐无需进行常规肾上腺影像检查。 (1 |⊕○○○)

6.12 In adults with classic congenital adrenal hyperplasia, we recommend against routine adrenal imaging. (1|⊕○○○)

技术评论:为有肾上腺肿块、疾病控制不佳、治疗失效(中断)数年或对强化治疗缺乏反应的CAH个体应保留肾上腺影像。

6.13 在经典型CAH的男性中,我们推荐定期进行睾丸超声检查,以评估睾丸肾上腺静残余瘤的进展。 (1 |⊕⊕○○)

6.13 In males with classic congenital adrenal hyperplasia, we recommend periodic testicular ultrasound to assess for the development of testicular adrenal rest tumors. (1|⊕⊕○○)

6.14 在CAH患者中,我们推荐不应对心脏和代谢疾病进行超出一般人群的常规评估。 (1 |⊕⊕○○)

6.14 In patients with congenital adrenal hyperplasia, we recommend against routine evaluation for cardiac and metabolic disease beyond that recommended for the general population. (1|⊕⊕○○)

技术评论:临床医生应根据前述程序自行判断


CAH患者通过手术恢复功能性解剖

Restoring functional anatomy by surgery in individuals with CAH 


7.1 在所有CAH儿科患者中,特别是轻微男性化的女孩,我们建议(advise)家长了解手术方案选择,包括延迟手术和/或观察,直到孩子长大。 (未分级的良好实践声明)

7.1 In all pediatric patients with congenital adrenal hyperplasia, particularly minimally virilized girls, we advise that parents be informed about surgical options, including delaying surgery and/or observation until the child is older. (Ungraded Good Practice Statement)

技术评论:只能在具有经验丰富的儿科外科医生/泌尿科医生、儿科内分泌科医生、儿科麻醉师、行为/心理健康专业人员和社会工作服务的中心进行手术。需要在手术前进行关于风险和益处、共同决策、潜在并发症审查以及完全知情同意的广泛讨论。放弃手术的选择也应考虑。

7.2 在严重男性化的女性中,我们建议(advise)讨论早期手术以修复泌尿生殖窦结构。 (未分级的良好实践声明)

7.2 In severely virilized females, we advise discussion about early surgery to repair the urogenital sinus. (Ungraded Good Practice Statement)

7.3 在治疗CAH未成年人时,我们建议(advise)所有手术决定仍然是家庭(即父母和大龄儿童同意)与经验丰富的外科顾问联合决策。 (未分级的良好实践声明)

7.3 In the treatment of minors with congenital adrenal hyperplasia, we advise that all surgical decisions remain the prerogative of families (i.e., parents and assent from older children) in joint decision-making with experienced surgical consultants. (Ungraded Good Practice Statement)

7.4 对于选择手术的CAH女性患者,我们建议使用泌尿生殖器移位(urogenital mobilization)进行阴道成形术,并在进行选择时,对于严重的阴蒂肿大,采用神经血管保留的阴蒂成形术。 (2 |⊕○○○)

7.4 In female patients with congenital adrenal hyperplasia for whom surgery is chosen, we suggest vaginoplasty using urogenital mobilization and, when chosen, neurovascular-sparing clitoroplasty for severe clitoromegaly. (2|⊕○○○)


实验疗法和未来方向

Experimental therapies and future directions


一般考虑和未满足的临床需求

General considerations and unmet clinical needs

8.1 对于CAH患者,我们建议(advise)不要在正式批准的临床试验之外使用实验性治疗方法。 (未分级的良好实践声明)

8.1 In patients with congenital adrenal hyperplasia, we advise against using experimental treatment approaches outside of formally approved clinical trials. (Ungraded Good Practice Statement)

肾上腺切除术

Adrenalectomy

8.2 在先天性肾上腺增生患者中,我们建议不进行双侧肾上腺切除术。 (2 |⊕○○○)

8.2 In patients with congenital adrenal hyperplasia, we suggest that bilateral adrenalectomy not be performed. (2|⊕○○○)


精神健康

Mental health


9.1 对于CAH患者及其父母,我们推荐进行行为/心理健康咨询和评估,以解决与CAH有关的任何问题。 (1 |⊕⊕○○)

9.1 For individuals with congenital adrenal hyperplasia and their parents, we recommend behavioral/mental health consultation and evaluation to address any concerns related to congenital adrenal hyperplasia. (1|⊕⊕○○)

技术评论:临床医生应该意识到CAH个体可能有心理健康问题的风险,并且转诊到心理或精神治疗的阈值应保持较低。心理健康从业者应具备评估和管理先天性肾上腺增生相关心理社会问题的专业知识。


待续......


CK认证规范 @CK医学科普

内分泌代谢病规范化诊治 @CK医学科普

CAH诊治 @CK医学科普


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