先天性肾上腺皮质增生症的临床特点

目的 总结先天性肾上腺皮质增生症(CAH)患儿的临床症状、检查结果及治疗方法,探讨CAH的早期诊断和氧化可的松的治疗效果.方法 同顾性分析2006年2月-2010年8月诊断为CAH的14例住院患儿,总结其主要临床表现、实验室检查结果和影像学特点,比较患儿身高、体质量、头围等生长发育指标,探讨其皮质醇分泌节律及皮质醇水平与血清电解质的相关性,并评价氢化可的松对CAH患儿电解质紊乱的治疗效果.采用SPSS 13.0软件进行统计学分析.结果 14例CAH患儿主要临床表现为脱水、拒食、呕吐、腹泻、营养不良和体质量下降,12例出现外生殖器发育异常,10例伴色素沉着.患儿在出生第1年逐渐出现生长发育不良,体质量、头围增加明显落后于身高.在CAH的常见亚型——21 -羟化酶缺乏症失盐型患儿中,16:00血清皮质醇水平与血清钠离子水平呈负相关(r=-0.83,p＜0.05),与血清钙离子水平呈正相关(r=0.93,P＜0.05).静脉滴注氢化可的松可改善患儿的低钠血症(t=2.98,P＜0.05)、高钾血症(t=6.23,P＜0.01)及失盐型患儿的低氯血症(t=2.60,P＜0.05).结论 CAH患儿的临床表现不典型,容易误诊.患儿的体质量、头围是反映其生长发育滞后的重要指标.失盐型患儿的皮质醇水平与血清电解质水平相关.氢化可的松是治疗CAH的有效药物.     

Congenital Adrenal Hyperplasia and Brain Magnetic Resonance Imaging Abnormalities

A 15-yr-old male patient with congenital adrenal hyperplasia (CAH) was referred to our department with a one year history of gradual worsening of tremors. He was diagnosed with salt-wasting 21-hydroxylase deficiency CAH at 40 d old and was started on hydrocortisone, fludrocortisone and salt. He was found to have hypertension at 8 yr of age. Detailed investigations failed to detect any cause for secondary hypertension. Physical findings on the current hospitalization objectified obesity, blood pressure of 150/80 mmHg, postural and action tremor, left cerebellar syndrome, reflex tetra pyramidal syndrome and mental decline. Brain magnetic resonance imaging (MRI) showed bilateral periventricular white matter hyperintensity that was more pronounced in the posterior regions and associated with cortico-subcortical atrophy and complete agenesis of the corpus callosum. All investigations for leukoencephalopathy were negative. A diagnosis of brain MRI abnormalities related to CAH was made, and the patient received symptomatic treatment of tremors. Our case report provides evidence of an increased frequency of brain MRI abnormalities in CAH. The literature suggests hormonal imbalance and exposure to excess exogenous glucocorticoids as main probable mechanisms. Thus, in clinical practice, CAH should be considered as one of the possible causes of brain white matter involvement associated with or without cerebral atrophy.     

Sudden Cardiac Arrest in a Neonate with Congenital Adrenal Hyperplasia

We describe a 6-day-old male who developed cardiac arrest due to hyperkalemia secondary to congenital adrenal hyperplasia and was successfully resuscitated. This case illustrates the importance of considering congenital adrenal hyperplasia as one of the causes of sudden cardiac arrest in a neonate. A literature review revealed only one similar case in a 3 -month-old with a fatal outcome.     

Selective Effect of Mineralocorticoid Replacement Therapy on Renal Acid Excretion in Congenital Adrenal Hyperplasia

ABSTRACT. The renal acid excretion of eight children with salt-losing congenital adrenal hyperplasia, was studied in three different situations: before treatment (period I), under glucocorticoid therapy (period II) and when both glucocorticoid and mineralocorticoid were given as replacement treatment (period III). Although administration of glucocorticoid therapy alone allowed the correction of acidemia, normalization of urinary net acid excretion was achieved only after mineralocorticoid was added to the treatment.     

Congenital Adrenal Hyperplasia in Sweden 1969-1986 Prevalence, Symptoms and Age at Diagnosis

ABSTRACT. A retrospective study of all Swedish patients with congenital adrenal hyperplasia (CAH) born 1969-1986, was conducted to elucidate possible benefits of neonatal screening for CAH. Information was obtained about 150 patients (67 male, 83 female). One hundred and fortythree cases were regarded as classical and seven as non-classical (symptoms after 5 years of age or cryptic). All but two (one girl with 11-hydroxylase deficiency and one boy with β hydroxysteroid-dehydrogenase deficiency) had 21-hydroxylase deficiency. The prevalence was 1: 11500. Ninety-three patients (48 male, 45 female) displayed salt loss, all before the age of 3 months. Two boys had died and many children had been critically ill during the first weeks of life. The median age at diagnosis for boys in this group was 21 days. Gender assignment was a major problem in 38 of 57 girls with ambiguous genitalia noticed during the first day. Fifteen of these girls were considered to be male for their first 40 days (median), before the CAH diagnosis was established. Patients in whom the first symptom was manifested after the age of one year often showed growth acceleration, which frequently was overlooked. Median diagnostic delay in this group was 17 months. Possible benefits of neonatal screening are: avoidance of a serious salt-loss crisis; earlier diagnosis and correct gender assignment in virilized girls; decreased virilization, growth acceleration and premature pubarche in prepubertal children; and reduced negative consequences for psycho-social development and final height.     

Loss of Therapeutic Control in Congenital Adrenal Hyperplasia due to Interaction between Dexamethasone and Primidone

ABSTRACT. A 14-year-old girl with congenital adrenal hyperplasia showed rapid conversion from undertreatment to overtreatment when primidone, used to treat coexistent epilepsy, was withdrawn while on a constant steroid dose. In addition to signs of hypercortisolism and a decrease in random measurements of plasma testosterone and 170H-progesterone concentrations, the deterioration in control was also illustrated by changes in the pattern of blood spot steroid profiles. Adequate control was achieved only after a 3-fold reduction in steroid dose. The decrease in dose requirement was probably the result of a reversal of liver enzyme induction consequent upon the withdrawal of primidone.     

早产儿脑白质损伤磁共振成像诊断基础与评价

随着新生儿重症监护病房(NICU)诊治技术的进步,降低了早产儿的死亡率,但是新生儿的神经发育异常发生率仍处于较高水平。人们越来越认识到,在早产的儿童中认知缺陷常可发生于没有显著损伤和脑性瘫痪时,其通常由于非严重的脑白质损伤(源于围生期)。微小囊性和弥漫性白质损伤常需要磁共振成像(MRI)才能发现,在早产儿脑损伤的构成中占据主导地位。早产儿脑白质损伤的靶细胞和组织不仅局限于前体少突胶质细胞和白质,也可以有神经元和灰质受累。实际上,脑白质损伤早产儿脑发育轨迹是破坏性损伤和异常发育过程的共同作用的结果。目前临床应用的MRI不仅能在损伤的早期发现微小性和弥漫性损伤,而且可以描述白质髓鞘化进程,纤维素发育及皮质成熟和脑的功能连接。但是,应用不同MRI技术在整个生命周期中准确反映脑发育上需要深入和长期的研究。     

新生儿先天性巨细胞病毒感染的临床研究

目的探讨新生儿先天性巨细胞病毒（CMV）感染的临床特征以及更昔洛韦治疗的临床疗效及其对预后的影响。方法先天性CMV感染新生儿73例分为试验组（n=32）、对照组（n=41）。二组患儿均给予茵栀黄退黄、蓝光照射、丙种球蛋白等对症支持治疗。试验组加用更昔洛韦[7.5mg/（kg.次）]治疗;对照组未使用更昔洛韦。观察更昔洛韦的临床疗效,并比较二组转归情况。结果1.临床特征：73例患儿均有症状性感染,以全身性感染为主（80.8%）;消化系统受累最常见（95.89%）,病理性黄疸是其主要首发症状和主要临床表现（95.89%）;病程中可并其他病原微生物感染,以机会菌败血症最常见（14.1%）;出生缺陷发生率为6.4%。2.临床疗效：试验组治疗后临床表现、辅助检查、病原学检查阴转率与对照组比较均有显著性差异（Pa〈0.001,0.005）。3.转归：试验组痊愈26例（81.3%）,显效6例（18.7%）;对照组进步14例（34.1%）,未愈27例（65.9%）,二组临床疗效比较有显著性差异（P〈0.005）。结论新生儿先天性CMV感染主要表现为有症状性全身性感染,及时予更昔洛韦正规治疗,能明显改善预后。     

Hyperkalemic Distal Renal Tubular Acidosis in Salt-Losing Congenital Adrenal Hyperplasia

ABSTRACT. Functional indices of distal urinary acidification were assessed in two male infants, aged 1 and 3 months, with salt-losing congenital adrenal hyperplasia. In both cases the diagnosis was sustained by the presence of elevated plasma levels of 17-hydroxyprogesterone, hyponatremia, hyperkalemia, metabolic acidosis and increased plasma renin activity. Both patients were unable to lower urinary pH below 5.9 either during acute ammonium chloride-induced acidosis or after i.v. administration of furosemide. One patient also failed to decrease urine pH below 5.5 and to increase urinary potassium excretion during sodium sulfate infusion. Oral sodium bicarbonate loading was given to both patients but failed to induce a significant increase in the urine minus blood P_co2 gradient. This gradient remained low also after neutral phosphate administration. Repeated studies after acute administration of fludrocortisone in one case or after prolonged administration of hydrocortisone in the other resulted in complete normalization of all functional studies. We conclude that salt-losing congenital adrenal hyperplasia can lead to hyperkalemic distal renal tubular acidosis in early infancy. The defective renal secretion of hydrogen ion and potassium is probably related to the abolishment of the negative potential difference in the cortical collecting tubule induced by the impaired reabsorption of sodium.     

Muscle Strength in Girls with Congenital Adrenal Hyperplasia

ABSTRACT. To assess whether exposure to excessive adrenal androgens increases muscle strength in girls with congenital adrenal hyperplasia, eighteen girls with 21 hydroxylase type congenital adrenal hyperplasia (CAH), aged 4.3–12.1 years were studied and compared with 78 healthy control girls aged 4–16 years. Maximum voluntary isometric strength was measured using a muscle testing chair, and the highest value from at least three attempts with each leg was recorded. Height and weight were also measured in the patients and controls. When compared with normal girls of similar age, some of the girls with CAH seemed unusually strong, but this difference was less marked when the CAH girls were compared with controls of similar weights. However, our data suggest that girls diagnosed later in childhood may have unusual muscle strength.     

幼儿先天性皮毛窦并脊髓内多发脓肿1例

目的通过对幼儿先天性皮毛窦并脊髓内多发脓肿的病例报告,加深对脊髓内脓肿的认识,减少先天性皮毛窦并脊髓内脓肿的发生。方法对1例先天性皮毛窦并脊髓内多发脓肿患儿的临床表现、实验室资料、影像学结果进行分析。结果本例患儿由于没有肃清感染灶,未手术治疗,没有定期进行详细的体格检查,导致发病时感染扩散,发生脊髓内多发性脓肿。结论脊髓内脓肿是一种罕见的疾病,会导致神经功能异常,如不积极治疗,预后差,MRI可确诊。先天性皮毛窦可并感染,感染扩散后可发生脊髓内脓肿,导致神经系统后遗症。对先天性皮毛窦患儿应及时手术治疗,避免感染的并发症。     

新生儿先天性心脏病54例

目的 分析新生儿先天性心脏病(CHD)的临床特点,为早期诊断提供依据.方法 收集本院2005年5月- 2010年8月54例CHD患儿.男31例,女23例;胎龄30～41周;出生体质量1200～3920g.分析CHD患儿的病理类型、病史、临床表现和辅助检查等情况.采用心脏彩色多普勒超声诊断仪探查其左心室长轴、大动脉短轴、四腔心(胸骨旁、心尖、剑突下),必要时胸骨上窝探查其主动脉弓,证实其心血管畸形存在.结果 新生儿非发绀型CHD占75.93％,发绀型占24.07％;非发绀型CHD中病理类型共有8种,其中以ASD、PDA和VSD居多;发绀型CHD病理类型有7种,以大动脉转位和法洛四联症较多.临床表现以发绀、呼吸急促、心脏杂音等最为常见.早产儿发绀型CHD发生率为62.50％,足月儿为7.89％,二者比较差异有统计学意义(P＜0.01).结论 新生儿CHD的临床表现不典型,早期诊断较困难,对可疑病例应引起重视,结合辅助检查尽早诊断.     

正电子发射断层脑显像在早产儿和足月新生儿中的应用

目的：早产儿和足月新生儿进行^18氟脱氧葡萄糖（^18F—FDG）正电子发射断层显像（PET）脑显像观察，为PET在新生儿的应用进行初步探讨。方法：足月新生儿11例和早产儿7例（男11例，女7例），注射0．1mCi／kg^18F—FDG后行PET脑显像观察。新生儿均经头颅CT或MRI检查无异常。结果：早产和足月新生儿脑^18F—FDG PET显像，其葡萄糖代谢活性区主要在丘脑较高，在大脑皮层较低，与成人脑有一定差异。特别在大脑皮层，足月新生儿摄取的葡萄糖活性较早产儿高，结构较清晰。结论：新生儿脑^18F—FDG PET显像对于评价脑代谢功能有一定意义。     

脑性瘫痪患儿脑白质数量的CT图像及模糊判据分析

目的 利用CT图像,分析脑性瘫痪患儿脑白质数量减少程度,并对脑白质数量减少进行模糊判据分析.方法 选择1 ～3岁临床诊断为脑性瘫痪病例,根据CT检查结果筛选出未见异常、脑白质偏少、脑室旁脑白质软化(PVL)3类病例.将这3类病例,依照年龄每3个月分为一小组,每一小组随机选取6例,共分为24个小组,共144例.利用CT工作站软件测量每例患儿半卵圆层面的脑白质和大脑半球的面积并进行统计分析;根据脑白质面积与大脑半球面积的比值对脑白质减少的性质进行疾病隶属度的模糊判据.结果 1.未见异常组、脑白质偏少组和PVL组患儿脑白质面积数量的中位数依次为2 000 mm2、1 738 mm2和1 387 mm2,未见异常组与脑白质偏少组、PVL组之间的差异均有统计学意义(P ＜0.05,0.01);脑白质偏少组与PVL组间差异无统计学意义(P＞0.05).2.大脑半球面积的中位数分别为5 809 mm2、5 618 mm2和5 370 mm2,3组间的差异均无统计学意义(Pa＞0.05).3.脑白质数量的隶属度图显示脑白质偏少组与PVL组、未见异常组均有交集,但是与PVL组有更多交集;当脑白质与大脑半球的面积比值＜ 0.255时,患儿属于PVL的隶属度≥0.5.结论 影像科诊断医师对脑白质数量的评估较为准确;脑白质偏少可视为轻度PVL.计算半卵圆脑白质与大脑半球的面积比值并由此确认脑白质减少的隶属度对确认病情的严重程度有参考意义.     

磁共振成像及质子磁共振波谱评价足月新生儿缺氧缺血性脑病

目的利用脑磁共振成像（MRI）及质子磁共振波谱（^1HMRS）技术探讨足月新生儿缺氧缺血性脑病（HIE）脑形态学变化及脑代谢物的改变。方法对足月新生儿HIE46例进行头颅MRI、^1HMRS检查，并以无窒息史的9例新生儿作为对照。结果1．MRI显示HIE患儿存在12种异常征象，其中弥漫性脑水肿、灰白质分界消失、T1WI基底核异常高信号伴内囊后肢正常高信号消失、胼胝体水肿、脑回征、脑实质广泛出血等征象是脑损伤严重表现。2．^1HMRS显示乳酸／肌酸（Lac／Cr）比值、谷氨酸复合物-α钡酸（Glx—α／Cr）比值在HIE各组及对照组比较均有显著差异（P〈0．05），且与临床分度有显著相关性（ρ=0．76，059P〈0．0001），N-乙酰门冬氨酸／肌酸（NAA／Cr）比值在HIE重度组明显低于中、轻度组（P〈0．05）。结论MRI和^1HMRS相结合可客观反映HIE患儿脑形态及代谢变化，评价其脑损伤严重程度。     

Ethnic and gender differences in rates of congenital adrenal hyperplasia in Western Australia over a 21 year period

Aim: To evaluate the incidence, sex distribution, ethnicity, age at diagnosis, clinical presentation and morbidity of all childhood‐onset congenital adrenal hyperplasia (CAH) cases in Western Australia (WA) between 1990 and 2010, a state where newborn screening for CAH is not in place. Methods: The total number of all known CAH cases was identified. Case files were reviewed retrospectively to determine clinical details. Classical CAH (C‐CAH) was defined as patients presenting before 6 months of age and non‐classical (NC‐CAH) as presenting after 6 months. Results: Of the 41 CAH cases (26 female) born in WA, 5(12.2%) were of Aboriginal ethnicity. CAH was due to 21‐hydroxylase deficiency in 40 cases. Of those with 21‐hydroxylase deficiency, 37 were C‐CAH (25 female) and 3 NC‐CAH (all male). The incidence of C‐CAH in WA was estimated to be 0.67 per 10 000 live births (1:14 869). The incidence rate ratio of Aboriginal compared with non‐Aboriginal C‐CAH was 2.45 (95% confidence interval 0.96–6.29). The mean age of diagnosis of C‐CAH cases was lower in females (8.9 ± 2.5 days) compared to males (23.4 ± 9.8 days). Among these males, 72.7% presented initially with adrenal crisis. Conclusion: The estimated incidence of classical CAH is similar to composite worldwide data. The increased female‐to‐male ratio is not in keeping with the expected sex distribution seen in a recessively inherited disease. The delayed diagnosis in males, with a significant proportion presenting with adrenal crisis, could be avoided with newborn screening. The higher rate of CAH in patients with Aboriginal ethnicity is a novel observation.     

Poor Response to Substitution Therapy with Cortisone Acetate in Patients with Congenital Adrenal Hyperplasia

Although cortisone acetate is approved worldwide as corticosteroid substitution therapy in congenital adrenal hyperplasia (21-hydroxylase deficiency), its effectiveness is uncertain since its biologic activity depends on activation by 11β-hydroxysteroid dehydrogenase (11β-HSD). We sought to compare the effect of cortisone acetate with that of hydrocortisone. In 10 patients with congenital adrenal hyperplasia, cortisone acetate was replaced with hydrocortisone in substitution therapy. During this change, blood concentrations of 17-hydroxy-progesterone, adrenocorticotropin (ACTH), and requirements for each drug were monitored. Concentrations of 17-hydroxyprogesterone decreased (mean 10.1 vs. 48.6 ng/ml), as did those of ACTH. Cortisone acetate dose requirements averaged 33.9 mg/m², while hydrocortisone dose requirements averaged only 20.3 mg/m². In one of the patients resistant to cortisone acetate therapy, DNA sequences in the coding regions and promoter of the 11β-HSD gene were analyzed, detecting no genetic abnormalities. Cortisone acetate is inferior to hydrocortisone as substitution therapy in patients with congenital adrenal hyperplasia.