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??Abstract??Due to the metabolic disturbance?? hyperammonemia?? hypoglycemia?? metabolic acidosis and energy deficiency usually presented in many kinds of Inborn Errors of Metabolism ??IEM???? which could cause metabolic encephalopathy with poor outcome. The blood and urine samples collected and tested during the acute stage were very important for the early diagnosis and proper treatment. Early initiation of management including supportive therapy?? removal of toxic metabolite?? provision of optimum vitamins and cofactors?? specific drugs and special dietary management?? was critical for increasing the survival rate and decreasing the morbidity.     

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目前国内外在研究脑瘫患儿脑细胞功能方面报道甚少。笔者于2002—2005年应用18氟脱氧葡萄糖(FDG)正电子发射计算机断层扫描(PET)显像检测19例脑瘫患儿治疗前后脑细胞葡萄糖代谢的变化,现报道如下。选择2002-07—2005-06在广东省人民医院住院及门诊的小儿脑瘫患儿19例,按脑瘫诊断标准诊断[1],并排除遗传代谢病。其中男12例,女7例,年龄最小11个月,最大4岁。临床分型:痉挛型8例,徐动型2例,混合型8例,共济失调1例。19例患儿全部先行MRI检查,脑电图检查,然后在本院PET中心行18F-FDG、PET检测。治疗方法:①采用运动疗法:Bobath法为主,配合…     

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??Objective??To observe the influence of gonadotropin-releasing hormone analogue??GnRHa?? treatment on body mass index??BMI????glucose and lipid metabolism??hypothalamic pituitary gonadal axis??HPGA?? function in Chinese girls with idiopathic central precocious puberty??ICPP?? after withdrawal. Methods??The girls??who were treated with GnRHa for two years and then withdrawn??were enrolled in this study. The data of height??weight??BMI??fasting blood glucose??FBG????blood lipid??insulin??serumhormonesassociated with the HPGA??and the volumes of uterine and ovarian were obtained and compared at withdrawal??the first and second year after withdrawal respectively. Results??A total of 65 girls with ICPP were studied. Compared with withdrawal??BMI??sex hormone and other indexes at the first and second year after withdrawal were increased significantly??P??0.05????but the level of BMI-Z score??FBG and lipid metabolism index did not change significantly??P??0.05??. Dehydroepiandrosterone sulfate and testosterone at second year after withdrawal were significantly higher than those at withdrawal??P??0.05??. After withdrawol for??14.16±6.70?? months??32 girls emerged menarche??whose average age was??11.86±0.75?? years old. Conclusion??HPGA function of ICPP girls who had treated with GnRHa gradually recovered after withdrawal. The treatment of GnRHa has been found no influence on weight status??but might increase the level of insulin and androgen.     

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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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??Abstract??In recent years?? the significant progress has been made in the clinical diagnosis and treatment of inherited metabolic diseases. The molecular mechanism and pathophysiology of the diseases have been widely studied. Genetic counseling and prenatal diagnosis play an indispensable role in understanding occurrence and preventing recurrence of genetic diseases. This article is willing to present the related contents of genetic counseling and prenatal diagnosis.     

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??Childhood and adolescence are key periods for bone development and mineralization. Bone diseases in childhood and adolescence can result in skeleton deformities, decreased adult height and changed peak bone mass. It would be very important to early diagnose and treat bone diseases in childhood and adolescence. According to the clinical manifestation, laboratory examinations and X-ray, bone diseases can be classified as metabolic bone disorders of calcium and phosphate, and genetic bone diseases. The pathogenesis, clinical manifestations, biochemical and radiological features of bone disease in childhood and adolescence were summarized. Progress in radiological examinations and treatment of these diseases were reviewed.     

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??Abstract?? Strategies used to diagnose inherited metabolic diseases include focusing on precipitating factors and clinical manifestations of acute metabolic disorders??hypoglycemia?? hyperammonemia??acidosis????encephalopathy??myopathy and mental/developmental retardation. Common lab studies are almost always needed??amino acid and organic acid studies must be performed for IEM diagnosis??genetic mutation analysis is a powerful tool to get correct diagnosis of IEM.     

Growth hormone treatment regimens in girls with Turner syndrome

To optimize growth hormone (GH) treatment in girls with Turner syndrome, two multicentre studies were carried out in The Netherlands: a frequency-response study (study 2) and a dose-response study (study 2). In study 1, 19 girls with Turner syndrome, aged 11 years or older, were treated with one or two daily injections of GH at a total dose of IU/m²/day (0.067 mg/kg/day) and ethinyloestradiol given orally at a dose of 0.05 μg/kg/day. All the girls reached final height. The mean (±SD) gain in final height was not significantly different between the once- or twice-daily regimens (7.6 ± 2.3 versus 5.1 ± 3.2 cm, respectively). The mean final height attained was 155.5 ± 5.4 cm. All the girls exceeded their adult height prediction. In study 2, 68 girls with Turner syndrome, aged 2-11 years, were randomized into three dosage groups: A, B and C. During the first year, the girls in all the groups received GH at a dose of 4 IU/m²/day (0.045 mg/kg/day), which group A continued to receive throughout the study. At the start of the second year groups B and C were switched to a dose of 6 IU/m²/day, which the girls in group B continued to receive for the reminder of the study. At the start of the third year, the girls in group C were switched to a dose of 8 IU/m²/day (0.090 mg/kg/day) for the remainder of the study. After 7 years of GH treatment, height SDS (based on Turner syndrome and normal population references) increased significantly in all three groups, but significantly more in groups B and C compared with group A ( p = 0.02 and p =0.001, respectively). Predicted adult height increased significantly, without a significant difference between the three groups. The mean final heights of 25 of the girls were 159.1, 161.8 and 162.7 cm for groups A, B and C, respectively.     

rhGH替代治疗对生长激素缺乏儿童糖代谢的影响

目的探讨重组人生长激素(rhGH)替代治疗对生长激素缺乏症(GHD)儿童糖和胰岛素代谢的影响以及 GH 与糖代谢平衡之间的关系。方法对44例(男28例,女16例)4.5～16.5(10.4±2.6)岁 GHD 患儿在接受 rhGH 治疗前及治疗后每3个月检测体重指数、胰岛素样生长因子-1(IGF-1)、行口服葡萄糖耐量试验,计算稳态模型胰岛素抵抗指数。结果 (1)空腹血糖和 IGF-1在治疗3个月时即显著提高,一直持续较高水平,每个随访时间点与治疗前比较,差异均有统计学意义(F=6.81,7.31,P 均<0.01);稳态模型胰岛素抵抗指数和空腹胰岛素分别在治疗3和9个月时提高(P<0.01和 P<0.05),1年后下降,治疗1年半时与治疗前比较,差异已无统计学意义(均 P>0.05)。(2)相关分析发现,稳态模型胰岛素抵抗指数与体重指数、IGF-1和治疗持续时间显著相关(r=0.251,0.437,0.281,P 均<0.001)。二次方程曲线回归分析发现,稳态模型胰岛素抵抗指数与治疗持续时间呈近似抛物线量变关系。(3)发现2例暂时性高血糖,分别在停用 rhGH 治疗后1个月和5d 血糖恢复正常,再注射 rh GH 后,行口服葡萄糖耐量试验正常。结论 GHD 儿童接受 rhGH 治疗(尤第1年内)可增加胰岛素抵抗,极少数引起短暂糖代谢紊乱。循环 IGF-1可能参与控制胰岛素的敏感性,在 GH 与胰岛素平衡间起重要作用。有必要对所有接受 rhGH 治疗者定期监测糖代谢指标和 IGF-1水平。     

Combined therapy with growth hormone and oxandrolone in adolescent girls with Turner syndrome

Five adolescent girls with Turner syndrome (mean age 13.9 years, mean bone age 12.0 years) were treated with both recombinant human growth hormone (rhGH) and oxandrolone for 2 years with an average increment in height of 13.4 cm. The mean bone age advanced by only 1.2 years, providing an increase in the mean estimated mature height of 9.2 cm. We conclude that rhGH and oxandrolone benefit older teenagers with Turner syndrome because of an increased growth rate with slow progression of skeletal maturation.     

Growth hormone treatment in Turner syndrome accelerates growth and skeletal maturation

Sixteen girls with Turner syndrome (TS) were treated for 4 years with biosynthetic growth hormone (GH). The dosage was 4IU/m² body surface s.c. per day over the first 3 years. In the 4th year the dosage was increased to 61 U/m² per day in the 6 girls with a poor height increment and in 1 girl oxandrolone was added. Ethinyl oestradiol was added after the age of 13. Mean (SD) growth velocities were 3.4 (0.9), 7.2 (1.7), 5.3 (1.3), 4.3 (2.0) and 3.6 (1.5) cm/year before and in the 1st, 2nd, 3rd and 4th year of treatment. Skeletal maturation advanced faster than usual in Turner patients especially in the youger children. Although the mean height prediction increased by 5.6 cm and 11 of the 16 girls have now exceeded their predicted height, the height of the 4 girls who stopped GH treatment exceeded the predicted adult height by only 0 to 3.4 cm.     

Growth hormone treatment of Turner syndrome patients with insufficient growth hormone response to pharmacological stimulation tests

Growth before and during treatment with biosynthetic human growth hormone (hGH) was studied in 13 patients with Turner syndrome (TS) and a growth hormone (GH) response of less than 10 g/l to two standard provocative tests. During 1 year of treatment with hGH (0.15 IU/kg per day) height velocity (mean±SD) increased significantly (P<0.001) from 3.7±1.8 cm/year to 7.6±1.5 cm/year. The auxological data in these girls before and during treatment with hGH were similar to those observed in TS patients with a normal response of GH to pharmacological stimuli. It is concluded that in girls with Turner syndrome GH testing should only be performed when height velocity is below the Turner norm. In TS patients with residual growth potential a clinically significant growth acceleration can be obtained with a higher-than-replacement dose of hGH, i.e. 0.15 IU/kg per day, regardless of GH testing.     

Changes with growth hormone treatment in growth hormone deficient children

A total of 54 previously untreated patients (15 girls, 39 boys) with poor growth due to idiopathic growth hormone deficiency (IGHD) were treated with human growth hormone (hGH), continuously up to 4 years. All of the patients had a peak hGH level which was below 10 ng/mL after at least two pharmacological tests and/or blunted physiologic hGH secretion, and their height was below ?2.5 s.d. for age and gender. After the 1st year of therapy, height velocity (HV) increased significantly when compared with baseline (from 3.18 ±0.76 cm/year to 9.17±1.03 cm/year; P <0.001), declined during the 2nd year and then remained significantly higher than pretreatment HV. When considering improvement in height expressed by height standard deviation score (SDS), during the therapy all of the patients showed a significant gain ± 1.72±1.09 (from ?4.11±0.61 to ?2.21±0.48). The height values were significantly higher than pretreatment, but remained below ?2 s.d. after 4 years of hGH therapy in our patients. Increased height velocity has been sustained, but height improvement after therapy was inversely correlated to height SDS for chronological age of patients at the start of therapy. In conclusion post-treatment height has been shown to be related to height deficit at the beginning of therapy. Therapy was well tolerated with no local or systemic adverse effects or acceleration of bone age.     

儿童原发性肾病综合征脂联素与其他脂代谢相关因素的探讨

目的 初步探讨儿童原发性肾病综合征(PNS)脂联素(ADPN)的变化,了解ADPN与PNS其他脂代谢相关因素的联系.方法 对71例PNS急性期患儿、37例缓解期患儿和35例健康儿童的血浆、尿液ADPN浓度进行定量分析,并将急性期患儿分为激素敏感组59例和激素耐药组12例,测定急性期患儿的体质指数(BMI)、肾小球滤过率(GFR)、血清白蛋白(Alb)、肌酐(Cr)、补体C3、三酰甘油(TG)、胆固醇(Tch)、高密度脂蛋白(HDL)、低密度脂蛋白(LDL)、脂蛋白aLP(a)、载脂蛋白A(apoA)、载脂蛋白B(apoB)以及24 h尿蛋白定量,并进行相关性分析.结果 急性组的血浆、尿ADPN(14.02 ± 3.44 μg/ml,4.71 ± 2.12 μg/ml)显著高于缓解期组(7.13 ± 5.07 μg/ml,2.50 ± 1.06 μg/ml)和正常对照组(7.17 ± 2.94 μg/ml,2.60 ± 1.06 μg/ml)(P ＜ 0.01).激素耐药组血浆、尿ADPN均显著高于激素敏感组(P ＜ 0.05).PNS急性期患儿血浆ADPN分别与尿ADPN、血清TG、Tch、LDL、LP(a)、apoB及24 h尿蛋白定量正相关(r ＝ 0.242 7 ～ 0.609 1,P均＜ 0.05),与血清Alb、HDL负相关(r ＝ -0.745 4、-0.489 7,P ＜ 0.01).结论 PNS患儿的血浆及尿液ADPN浓度明显升高.血浆和尿液ADPN浓度与其他脂代谢指标密切相关.     

Ganglioneuroma of left adrenal gland in a patient with Turner syndrome during growth hormone therapy

We report on a Japanese girl with Turner syndrome (45,XO) who developed ganglioneuroma of the left adrenal gland during growth hormone (GH) therapy. She had received GH replacement therapy from the age of 6.8 years. At the age of 10.3 years, abdominal ultrasonography revealed a mass which occupied the upper area of her left kidney. Computed tomography and magnetic resonance imaging of the abdomen showed a low density mass with a smooth surface located between the upper portion of the left renal vein and the pancreas. Microscopic examination resulted in a diagnosis of ganglioneuroma of the left adrenal gland. At present we cannot conclude that patients who have received GH replacement therapy are at higher risk for developing tumors compared to those without GH replacement therapy.