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??Inborn errors of metabolism??IEM?? are rare conditions that represent more than 750 diseases. Most are inherited as an autosomal recessive trait. In this article we document the IEM characterized by bone metabolism disorders in children??focusing on more common and treatable conditions??such as richets??osteomalacia??osteoporosis and osteopetrosis. Most of these conditions involve metabolic disorders of calcium??phosphate??vitamin D??PTH??alkaline phosphatase and lysosomal.     

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目的探讨射频消融治疗小儿Ebstein畸形合并房室折返性心动过速的疗效、安全性及其影响因素。方法分析2009年1月至2011年6月在清华大学第一附属医院接受射频消融治疗的8例Ebstein畸形合并房室折返性心动过速患儿临床资料,总结体表心电图表现、旁路数量及部位、射频消融标测方法及疗效。结果 8例患儿射频消融前体表心电图表现为显性预激者5例,间歇性预激者1例,未见典型预激波2例。心内电生理学检查共发现9条房室旁路,其中右后壁旁路5条、右中间隔旁路2条、右后间隔旁路2条。9条房室旁路中共8条被成功消融(88.9%),1例右后间隔旁路因消融电极难以稳定贴靠三尖瓣环消融未能成功。4例患儿因消融电极贴靠不稳定而选用Swartz鞘辅助。5例患儿于射频消融术后接受了Ebstein畸形矫治手术。结论 Ebstein畸形合并的房室旁路主要位于右后壁及右后间隔;对于小儿Ebstein畸形合并房室折返性心动过速患儿,矫治术前选择射频消融是安全而有效的治疗手段。对比显性预激窦性心律下标测AV融合点作为消融靶点,消融术中采用心室起搏或心动过速下标测VA融合点更为可靠和有效。     

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目的通过观察Turner综合征(TS)患儿使用重组人生长激素(rhGH)后糖、脂质代谢的变化,为其安全性治疗提供临床数据。方法对2007年7月至2010年6月在卫生部中日友好医院明确诊断为TS的28例患儿进行体脂、血脂检测,葡萄糖耐量试验(OGTT),采用rhGH替代治疗6个月后复查上述指标,比较治疗前后糖、脂代谢指标的变化。结果在28例患儿中发现单体型、嵌合体型、X染色体长臂等臂型、X染色体长臂缺失型4类异常的染色体核型;体脂测量中,体脂含量(FAT%)治疗前后差异有统计学意义(P<0.05),脂肪重量(FM)治疗前后差异无统计学意义(P>0.05);血脂检测中,血清高密度脂蛋白(HDL-C)、低密度脂蛋白(LDH-C)治疗前后差异有统计学意义(P<0.05);血清甘油三酯(TG)、胆固醇(CHO)治疗前后差异无统计学意义,治疗前TG异常5例,CHO异常6例,治疗后均变为2例异常。在OGTT试验中,5例患儿存在糖耐量减低(IGT),治疗后IGT例数无改变,胰岛素抵抗指数(HOMA-IR)治疗前后(1.63±0.45对1.58±0.44)差异无统计学意义。结论 TS患儿存在糖、脂质代谢紊乱的高风险,通过rhG...     

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??Objective??To explore the correlation between FeNO levels and airway reversibility and its clinical significance in assessment of children with asthma. Methods??A total of 161 children at 5 to14 years old with asthma admitted to pediatric respiratory outpatient of Shengjing Hospital Affiliated to China Medical University from November 2014 to November 2015 were divided into allergic group and non-allergic group according to the allergic condition. FeNO and bronchial dilatation tests were made in the two groups. The correlation between FeNO levels and improvement rate after bronchodilator in two groups was analyzed. Results????1??FeNO level in allergy group was obviously higher than that in non-allergic group??P??0.002??. ??2?? FeNO level of children in allergic group was positively correlated with improvent of bronchial improvement??P??0.05????and negatively correlated with FEV1%?? FEV1/FVC%?? FEF50%?? FEF25% and FEF75/25% of basic lung function??P??0.05????but was irrelevant to FVC%?? PEF% and FEF75% of basic lung function??P??0.05??.??3??FeNO level of children in non-allergic group was irrelevant to improvement rates of bronchial dilation and basic lung function??P??0.05??. Conclusion??For asthmatic children with allergic constitution??FeNO level is positively correlated with airway reversibility. It may be a good noninvasive predictor for evaluating asthma and airway reversibility in children with asthma. While for children without allergic constitution??FeNO level cannot indicate the airway reversibility effectively.     

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近年来,随着儿科内分泌遗传代谢病专业不断壮大以及与国外学术交流的增多,国内儿科内分泌遗传代谢病领域的研究进展不断创新。2011年10月13-16日第11届全国儿科内分泌遗传代谢病学术会议在山东烟台隆重举行,来自全国各地的450名正式代表出席了会议,会议收到论文168篇,基本反映了我国儿科内分泌遗传代谢病诊治及研究的整体水平。现就2011年国内儿科内分泌遗传代谢     

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目的探讨心力衰竭(CHF)患儿血管紧张素转化酶抑制剂(ACEI)治疗前后血浆基质金属蛋白酶9(MMP-9)、基质金属蛋白酶抑制剂1(TIMP-1)和B型利钠肽(BNP)的变化。方法 2001年1月至2010年6月在四川省宜宾市二医院住院的CHF患儿20例,其中男13例,女7例;年龄3个月至8岁。将患儿分为常规治疗的对照组和加用苯那普利的治疗组。治疗前和治疗6个月后,采用超声心动图测量左心室舒张末期前后径(LVDd)、左心室收缩末前后径(LVDs)、左心室舒张末期容积(LVEDV)、左心室收缩末期容积(LVESV)和射血分数(LVEF);采用酶联免疫吸附试验(ELISA)测血清MMP-9、TIMP-1;免疫荧光法测定血清BNP。另选择健康儿童12名为正常组。结果对照组治疗前后LVDd、LVDs及LVEF比较差异无统计学意义(P均>0.05),LVEDV和LVESV治疗后降低明显,差异有统计学意义(P均<0.05);治疗组治疗前后,LVDd、LVDs、LVEDV、LVESV、LVEF差异均有统计学意义(P均<0.05);治疗后治疗组LVDd、LVDs、LVEDV、LVESV降低更明显,LVEF增高更显著,与对照组...     

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??To study the status of myocardial T2* and liver T2* in β- thalassemia major??β-TM?? patients with iron overload and its relationship with clinical test data. Methods??In June 2010??on a voluntary basis??out of the 80 β-TM patients over 7 years under regular blood transfusion therapy??51 were chosen to receive myocardial MRI T2* ??myocardial T2*?? and liver MRI T2* ??liver T2*?? tests. The results were compared with age??SF??LVEF??transfusion time??chelation time and Hb. Results??Eleven out of 51 cases ??21.6%?? were myocardial iron overload??including 3 mild cases??3 moderate cases and 5 severe cases. Forty-three out of 51 cases ??84.3%?? were liver iron overload??including 14 mild cases??17 moderate cases and 12 severe cases. There was no correlation between myocardial T2* and SF??LVEF or liver T2*. SF was positively correlated with liver T2*??r = 0.558??P < 0.01??. The transfusion time of myocardial T2* > 20 ms group was less than that of myocardial T2* < 20 ms group ??P < 0.05??. There was no statistical significance between the liver iron overload incidence ratios of the two groups ??P > 0.05?? . Two out of 11 myocardial iron overload cases had lower LVEF??18.2%??. Conclusion??The group of TM patients demonstrates lower myocardial iron overload incidence and higher liver iron overload incidence. As SF increases??liver iron overload becomes more severe??myocardial iron overload can not be predicted or determined by examining SF level. There is no correlation between myocardial iron overload and liver iron overload. LVEF can not be a reliable factor to predict myocardial iron overload.     

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目的探讨不同海拔地区女性青少年血清骨碱性磷酸酶(BAP)、Ⅰ型前胶原羧基端前肽(PICP)和骨钙素(OC)的特点及其差异,为临床运用提供基础数据。方法 2003年6月至2005年10月采用分层整群抽样方法,从西藏拉萨(海拔3500m)、西藏那曲(海拔4500m)和辽宁锦州(海拔28m)的大、中、小学随机抽取12～<19岁健康女性青少年共1093名,进行身高及血清BAP、PICP和OC测定。结果拉萨组和那曲组血清BAP、PICP和OC总体水平均高于锦州组,组间差异有统计学意义(P<0.01);拉萨组3个生化标志物显著高于那曲组(P<0.01或P<0.05)。3组血清BAP、PICP和OC均在12～<13岁时出现高峰,且随年龄增长迅速下降,但锦州组3个生化标志物随年龄变化趋势较拉萨组和那曲组平缓。血清BAP、PICP和OC水平均与身高密切相关(r=0.56、0.48、0.43,P<0.01)。结论不同海拔女性青少年血清BAP、PICP和OC随年龄变化特点基本一致,但高原藏族青少年血清BAP、PICP和OC高于平原汉族青少年。应建立针对高原藏族青少年的骨形成标志物的正常参考值。     

Bone turnover in children with vitamin D deficiency rickets before and during treatment

Biochemical markers of bone formation [alkaline phosphatase, osteocalcin, and carboxyterminal propeptide of type I procollagen (PICP)] and bone resorption [cross-linked carboxyterminal telopeptide of type I collagen (ICTP) and cross-linked N-telopeptides of type I collagen (NTX)] were measured in 14 children aged 8.5-10.5 mo with vitamin D deficiency rickets before and longitudinally during vitamin D treatment (3000-4000 IU/daily). Forty-four healthy children aged 8-10.5 mo were enrolled as sex- and age-matched controls. Before treatment, serum levels of alkaline phosphatase, PICP, and ICTP, and urinary excretion values of NTX were significantly higher, and serum osteocalcin levels significantly lower than controls (31.4 +/- 3.5 microkat/L and 9.8 +/- 2.9 microkat/L, p < 0.001; 1025 +/- 89 microg/L and 952 +/- 97.4 microg/L, p < 0.02; 15.6 +/- 2.6 microg/L and 14.2 +/- 1.3 microg/L, p < 0.01; 370.7 +/- 109.4 nmol BCE and 201.8 +/- 69.2 nmol BCE, p < 0.001: 17.6 +/- 9.1 microg/L and 22.5 +/- 7.6 microg/L, p < 0.05, respectively). During treatment, serum alkaline phosphatase levels progressively declined in association with the radiographic healing of the skeletal lesions. Serum levels of osteocalcin, PICP, and ICTP, and urinary excretion values of NTX showed a transient but significant (p < 0.05 to p < 0.001) increase in comparison with baseline values during the first 2-4 wk of treatment, and decreased slowly thereafter. They were within the mean +/- 2 SD of controls before the recovery of the skeletal lesions. CONCLUSIONS: These findings suggest that children with vitamin D deficiency rickets have increased bone turnover before and during the first weeks of treatment. Alkaline phosphatase is a more reliable marker than osteocalcin, PICP, ICTP and NTX for diagnosing and monitoring these patients.     

Circulating leptin levels and bone mineral density in children with biliary atresia

AIM: To investigate circulating leptin levels in biliary atresia (BA) patients and the association of leptin with bone mineral density (BMD) and the severity of BA. METHODS: We have examined 50 patients with BA and 15 matched healthy controls. Serum leptin, osteocalcin and C-terminal telopeptide of type I collagen (CTX) levels were measured by sandwich enzyme-linked immunosorbent assay (ELISA). BMD of the lumbar spine was measured by dual energy X-ray absorptiometry. RESULTS: Serum leptin levels of BA patients were lower than those of healthy controls (2.7 +/- 0.3 vs. 7.1 +/- 1.7 ng/mL, p = 0.0001). Among the BA patients, serum leptin levels were significantly lower in patients with jaundice than patients without jaundice (1.7 +/- 0.2 vs. 3.4 +/- 0.4 ng/mL, p = 0.001). BMD of BA patients was correlated (p < 0.001) with leptin levels, age and BMI (r = 0.55, r = 0.75 and r = 0.58, respectively). The serum CTX levels were significantly higher in jaundice patients compared with jaundice-free patients and the healthy controls (0.6 +/- 0.2 vs. 0.2 +/- 0.1 ng/mL, p = 0.01), whereas the serum osteocalcin levels in BA patients were not different from those in the controls. CONCLUSION: Circulating leptin levels are correlated with BMD and the presence of jaundice in BA, suggesting that the leptin may play a physiological role in maintaining bone mass of BA patients with jaundice.     

Bone turnover markers in children and adolescents with type 1 diabetes—A systematic review

Type 1 diabetes (T1D) is associated with impaired bone health and both osteocalcin (OCN) and procollagen type 1 amino terminal propetide (P1NP) (markers of bone formation) and C‐terminal cross‐linked telopeptide (CTX) (marker of bone resorption) are decreased in adult patients with T1D. We review the existing literature characterizing these bone turnover markers in children and adolescents with T1D and by meta‐analysis examine whether alterations in OCN, P1NP, and CTX are evident and if potential changes correlate to the metabolic control (hemoglobin A1c, HbA1c). Systematic searches at MEDLINE and EMBASE were conducted in January 2018 identifying all studies describing OCN, P1NP, or CTX in children and adolescents with T1D. A total of 26 studies were included, representing data from more than 1000 patients with T1D. Pooled analyses of standard mean difference and summary effects analysis were performed when sufficient data were available. Pooled analysis revealed mean OCN to be significantly lower in children and adolescents with T1D compared to healthy controls (standard mean difference: ?1.87, 95% confidence interval, CI: ?2.83; ?0.91) whereas both P1NP and CTX did not differ from the controls. Only data on OCN was sufficient to make pooled correlation analysis revealing a negative correlation between OCN and HbA1c (?0.31 95% CI: ?0.45; ?0.16). In conclusion, OCN is decreased in children and adolescents with T1D, whether CTX and P1NP are affected as well is unclear, due to very limited data available. New and large studies including OCN, P1NP, and CTX (preferably as z‐scores adjusting for age variability) is needed to further elucidate the status of bone turnover in children and adolescents with T1D.     

Serum levels of carboxyterminal propeptide of type I procollagen in healthy children from 1 st year of life to adulthood and in metabolic bone diseases

Type I collagen is the major component of bone matrix; circulating carboxyterminal propeptide of type I procollagen (P-I-CP) levels reflect type I collagen synthesis in tissues and may be an useful index to investigate bone metabolism. We measured P-I-CP by a new radioimmunoassay in 300 healthy children and adolescents and in 40 healthy adults to provide reference data for P-I-CP values. In addition, 79 patients with diagnosed disorders of phospho-calcium metabolism (rickets, vitamin D deficient and vitamin D resistant, hyperparathyroidism, hypo- and pseudo-hypoparathyroidism, osteopenia) were evaluated. In the healthy subjects, serum P-I-CP values were higher in children than in adults; variations of P-I-CP levels were observed according to age and sexual maturation: higher values were found in the first years of life and during pubertal development; pubertal increase reflects the different timing of pubertal development in the two sexes. P-I-CP levels were increased in primary hyperparathyroidism and reduced in diseases related to impaired secretion or action of parathyroid hormone. Higher P-I-CP levels were found in vitamin D deficient and vitamin D resistant rickets. P-I-CP was reduced in anorexia nervosa and during chronic glucocorticoid treatment while it was increased in thyrotoxic osteoporosis. In idiopathic juvenile osteoporosis, P-I-CP values ranged from reduced to increased values. We conclude that P-I-CP may represent an additional biochemical marker of bone metabolism. Since age-related variations are present, reference data for the various ages are need for clinical application of this assay.     

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目的比较儿童青少年腰围与体重指数(BMI)在代谢综合征(MS)诊断中的实用价值。方法采用随机抽样的方法于2009年6月至2010年10月从南宁市14所中小学中抽取6～18岁儿童青少年7893人,分析腰围、BMI与MS各检测指标的相关性。以中华医学会糖尿病学分会(CDS)及国际糖尿病联盟(IDF)(2007)建议的MS标准应用受试者工作特征曲线(ROC),比较腰围及BMI的ROC曲线下面积,反映腰围及BMI诊断MS的准确性大小。结果 (1)除高密度脂蛋白胆固醇(HDL-C)均值随肥胖增加而降低外,MS的各检测指标均值比较[除外空腹血糖(FBG)和天冬氨酸转移酶(AST)]均为肥胖组>超重组>正常组,3组间差异有统计学意义(P<0.05)。(2)腰围、BMI均与臀围、腰臀比、收缩压(SBP)、舒张压(DBP)、FBG、甘油三酯(TG)、低密度脂蛋白胆固醇(LDL-C)、空腹胰岛素(FINS)、胰岛素抵抗指数(HOMA-IR)呈正相关,与HDL-C呈负相关,其中腰围与FBG、TG、HDL-C、FINS、HOMA-IR的相关程度较BMI密切。(3)腰围检出MS各组分异常的灵敏性明显高于BMI,阳性预测值(除外HDL-C异常)均相对好于BMI。(4)腰围及BMI的ROC曲线下面积在CDS标准下分别为0.949和0.951;在IDF标准下分别为0.941和0.921。结论儿童青少年MS的诊断中,腰围较BMI更具诊断价值,腰围测量有助于儿童青少年MS的筛查。     

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??Objective To explore features of the change of vitamin D level and bone mineral density in children with inflammatory bowel disease??IBD??. Methods From January 2014 to September 2014??thirty-two children with IBD??study group?? and thirty age and gender-matched healthy children??control group?? were enrolled in the study. The children of study group and control group were tested for bone alkaline phosphate??BALP????bone gla protein??BGP?? and 25??OH??D3 in blood serum by enzyme-linked immunosorbent assay??ELISA????and the clinical data such as calcium??phosphorus and albumin??ALB?? in blood serum were collected. Results There were 15 patients??9 males and 6 females?? with ulcerative colitis??UC?? and 17 patients??10 males and 7 females?? with Crohn’s disease??CD?? in the study group. There were 30 children??19 males and 11 females?? in control group. The level of BGP??U??332.5??P??0.444?? and BALP??U??350??P??0.637?? in blood serum showed no significant difference between the study group and the control group. 25??OH??D3 concentration??t??-2.876??P??0.006????BMD??U??39.5??P??0.05?? ??calcium??t??-6.654??P??0.05????phosphorus??U??216.5??P??0.007????and ALB ??U??25??P??0.05?? showed significant difference between the study group and the control group. In study group??25??OH??D3 concentration and BMD showed positive correlation??rs??0.504??P??0.005????while 25??OH??D3 and blood albumin levels showed negative correlation??rs??-0.315??P??0.019??. There was significant difference betweenUC/CD group and control group in Z score of BMD??U??29.5??P??0.05??U??10??P??0.05????but no statistical difference between UC and CD patients in Z score of BMD ??P??0.10??. Conclusion Most child patients with IBD have insufficient or lack of vitamin D and are more likely to have reduced bone mineral density.