253例中国Turner综合征患者的自然生长曲线

目的制作中国人Turner综合征（TS）自然生长曲线。研究Turner综合征患儿自然生长规律。方法对全国5省市8所医院确诊的253例TS患者治疗前的身高、体重和骨龄进行观测。同一患者的2次测量值间隔至少超过1年才作为2例次参数计,共取得289个身高值和106个骨龄值。身高值经曲线参数估计法绘制曲线并与正常女孩生长曲线进行比较。结果患儿平均出生身长为(47.2±2.5)cm,身长标准差得分（HtSDS）为-1.52。3岁至13岁各年龄组患儿平均身高及其HtSDS值随年龄增大与正常值差距增大,HtSDS从3岁的-2.11降至13岁的-4.83,患儿平均身高与同年龄正常身高均数之差由3岁的8.03cm增加至13岁的27.89cm,从13岁起逐渐减少至20岁的18.87cm。成年身高为(140.0±7.9)cm。8岁前TS患儿生长曲线     

Growth of children with Down's syndrome: birth to age 3 years.

A sample of 90 children with Down's syndrome were measured for recumbent length and weight from birth to age 36 months at the Children's Hospital Medical Center in Boston. At birth, means for both length and weight were reduced by about 0.5 SDs from the control group means. By 36 months, mean recumbent length was greater than 2 SDs below that for the control group, while the mean for weight was reduced by about 1.5 SDs from the control group mean. Growth velocity for both length and weight was most deficient within the first two years of life. About 30% of the sample demonstrated excess weight for length relations by 36 months. Children with moderate or severe heart disease were significantly smaller than those without or with mild cardiac problems at all times after birth. Measurements of a subsample of children at 4, 5, and 6 years of age suggested that growth velocity after 3 years of age may be within the range of normal. Assessment of growth of the child with Down's syndrome may be carried out with reference to charts plotting tenth to 90th percentiles based on these data.     

Investigation of Growth Hormone Secretion in Patients with Intrauterine Growth Retardation

Rochiccioli, P., Tauher, M., Moisan, V. and Pienkowski C. (Department of Paediatrics, CHU Rangneil, Toulonse Cedex, France). Investigations of growth hormone secretion in patients with intrauterine growth retardation. Acta Paediatr Scand [Suppl] 349: 42, 1989.
Growth hormone (GH) deficiencies have rarely been reported in intrauterine growth retardation (IUGR). This study has investigated GH secretion using GH provocation tests, 24-hour GH secretory profiles, and insulin-like growth factor I (IGF-I) measurements in 24 children with intrauterine growth retardation. The criteria for diagnosis were a birth length and weight below the 10th percentile for gestational age. The average age at investigation was 5.5 years, and the average growth retardation was -3.3 SD. Twenty children had shown catch-up growth between the ages of 6 months and 3 years, followed by varying decreases in growth velocity. Studies of GH secretion demonstrated GH deficiency in 16 patients, with neurosecretory dysfunction in six. Treatment with pituitary GH in nine children increased mean growth velocity from 3.5 cm/year to 7 cm/year. GH therapy should thus be effective in improving the height prognosis of children with intrauterine growth retardation.     

Hypoparathyroidism, retardation, and dysmorphism syndrome: impaired early growth and increased susceptibility to severe infections due to hyposplenism and impaired polymorphonuclear cell functions

Hypoparathyroidism, retardation, and dysmorphism (HRD) syndrome is the first reported disease caused by a defect in the tubulin folding and assembly pathway. We aimed to summarize our experience with a cohort of patients with HRD, analyze their growth, and evaluate patients' polymorphonuclear cell (PMN) functions. The records of 22 HRD patients in a single medical center were reviewed. Growth during infancy and early childhood were analyzed by the Infancy-Childhood-Puberty (ICP) growth model. PMN functions were compared with healthy controls. Twelve patients died and many hospitalizations due to infections and convulsions were recorded. Growth measurements, expressed as weight and height SD scores in boys at a mean age of 4 y were -13.1+/-3.8 and -8.7+/-1 and -16.6+/-4.4 and -9.5+/-2.4, respectively, in girls at a mean age of 6.4 y. Chemotactic migration, random migration, and phagocytosis of PMN from HRD patients were significantly lower than that of PMN from healthy controls. No significant differences were found in superoxide production of PMN from patients compared with controls. Functional hyposplenism has been demonstrated in most of the studied patients. The defect in the tubulin folding and assembly pathway, previously described in HRD, has grave consequences on growth and PMN functions.     

Growth hormone treatment in children with familial dysautonomia

OBJECTIVE: To assess experience with growth hormone (GH) therapy in patients with familial dysautonomia (FD).Study design Of 580 patients with FD registered at the Dysautonomia Center at New York University Medical Center, 13 patients (8 males, 5 females) aged 1.10 to 15.10 years received GH treatment. GH doses ranged from 0.2 to 0.3 mg/kg/wk; one patient received 0.14 mg/kg/wk. Information regarding auxologic data, skeletal age, pubertal status, and spinal deformity before and after GH therapy was obtained from center records and treating endocrinologists. Growth velocity was analyzed before and during GH treatment at 0 to 6 months, 6 to 12 months, 1 to 2 years, and >2 years. RESULTS: Before GH therapy, growth velocity was <5 cm/y in 10 patients and 5 to 6 cm/y in three patients. In the first six months of GH therapy, growth velocity exceeded pretreatment rates in all but one patient; 10 patients achieved an annualized growth rate >7 cm/y. Six of nine patients treated for more than one year grew >5 cm/y. Less than optimal treatment responses were attributed to poor compliance, intercurrent illness, scoliosis, or advanced puberty. CONCLUSION: The data demonstrate that GH treatment in patients with FD may increase growth velocity, at least in the short term. This experiential data supports a future prospective study.     

Growth in infancy and childhood in girls with Turner's syndrome.

We describe spontaneous longitudinal growth in girls with Turner's syndrome (TS), using the infancy-childhood-puberty (ICP) growth model. Length/height during the first 12 years of life was studied in 58 Swedish girls with TS. Their mean length at birth was 47.8 cm (SDS -1.4) and mean height at 12.0 years of age 127.3 cm (SDS -3.0). A clear age-dependent subnormality was observed in the change in length-height SDS (delta SDS). Mean delta SDS values at ages 0.0 to 0.5 and 3.0 to 6.0 years were normal. In contrast, the mean delta SDS at ages 0.5 to 3.0 and 6.0 to 12.0 years were subnormal. The onset of the childhood growth component (normally located between 0.5 and 1.0 year of age) was, on the average, delayed by 0.28 year. This accounts for the subnormality of delta SDS at 0.5 to 3.0 years of age. About 50% of the variation in height at 12.0 years of age, as determined by a multiple linear regression analysis, was significantly explained by length at 0.5 year of age, age at the onset of the childhood component, and delta SDS at 6.0 to 12.0 years of age.     

Statural growth in Williams-Beuren syndrome

The spontaneous growth of 165 patients (75 girls and 90 boys) with Williams-Beuren syndrome was analysed in a mixed longitudinal and cross-sectional manner. Mean (±1 SD) length at birth was 48.2±2.6 cm in girls (n=52) and 49.0±3.0 cm in boys (n=65). Intrauterine growth retardation (length below –2 SD of the normal population) was present in 35% of the girls and 22% of the boys. Poor growth was noted during the first 2 years of life. Until age 9 years in girls and 11 years in boys, mean growth followed the 3rd percentile. A pubertal growth spurt with normal growth rate was seen at age 10 years in girls and 13 years in boys, i.e. 1 to 2 years earlier than normal. Menarche also occurred earlier than normal at a mean age of 11.6±1.5 years (n=28). Mean adult height was 153.9±6.9 cm in girls (n=17) and 168.2±6.9 cm in boys (n=27), approximately corresponding to the 3rd percentile in both sexes and correlating with the genetic height potential (target height). The mean deficit of adult height compared to target height was 10.2 cm in girls and 9.1 cm in boys. Skeletal development progressed at an approximately normal rate in both sexes.     

Modelization of growth between 0 and 3 years of age in children born in Toulouse in 1993-1994 and comparison with Sempé's growth curves]

AIM: The growth charts usually used in France were established by Sempé et al from the study of children born in 1953-1955. The aim of our study was to construct longitudinal growth charts from 0 to 3-year-old children born in 1993-1994, and to compare those with the charts made 40 years ago. POPULATION AND METHODS: One hundred forty-five term neonates (75 boys and 70 girls) born in Toulouse in 1993-1994 were included in our study. Their heights were noted every 3 months during the first year of life, then every 6 months until the age of 3. A two-stage model to modelize growth curves was used for the available data (66 boys and 61 girls). RESULTS: Mean heights were higher in our study than in Sempé's. In each sex, the mean curve was 0.6 to 0.8 SD far from Sempé's mean curve. Standard deviations rose from 2.0 to 4.0 cm between the ages of 2 months and 3 years. At the age of 3, boys and girls were respectively 2.7 cm and 2.3 cm taller than in the Sempé's study. Differences could not be explained by sample bias. DISCUSSION: Constructions and publication of recent French growth charts seem necessary in order to be able to compare one child's growth to the growth of same age and sex children.     

Rett综合征的临床特征及MeCP2的基因型与表型的关系研究

目的 总结Rett综合征(RTT)的临床特点,探讨甲基化CpG结合蛋白2(MeCP2)基因突变型与表型的关系。方法 北京大学第一医院儿科1987年以来诊断的RTT66例,每1～2年对本组患儿进行1次临床随访,并观察左旋肉碱的治疗反应。应用PCR、测序方法对39例患儿进行突变基因分析。结果 患儿3～38个月起病,59例(89％)患儿于7个月～6岁丧失手的功能,66例(100％)患儿1—5岁出现手的刻板动作,56例(85％)患儿11个月～8岁语言完全丧失,21％的患儿于2岁9个月～15岁丧失原已获得的行走能力。头围小、惊厥、呼吸节律异常、咬牙、脊柱侧凸或后凸均很常见。左旋肉碱治疗17例,8周后6例症状改善。39例进行．MeCP2基因分析者中有25例(64％)发现突变,其中2例无义突变C502T(氨基酸改变R168X)患儿均死亡,2例C397T(氨基酸改变R133C)和1例A398T(氨基酸改变R133H)突变者均保留语言。结论 RTI。特征性的表现为头围增长缓慢,手的失用与刻板动作,语言倒退,左旋肉碱可以改善部分患儿的临床症状。MeCP2基因型与表型之间有一定的相关性。     

Growth in Infancy and Childhood in Girls with Turner's Syndrome

ABSTRACT. We describe spontaneous longitudinal growth in girls with Turner's syndrome (TS), using the infancy-childhood-puberty (ICP) growth model. Lenght/height during the first 12 years of life was studied in 58 Swedish girls with TS. Their mean length at birth was 47.8 cm (SDS –1.4) and mean height at 12.0 years of age 127.3 cm (SDS –3.0). A clear age-dependent subnormality was observed in the change in length-height SDS (ΔSDS). Mean ΔSDS values at ages 0.0 to 0.5 and 3.0 to 6.0 years were normal. In contrast, the mean ΔSDS at ages 0.5 to 3.0 and 6.0 to 12.0 years were subnormal. The onset of the childhood growth component (normally located between 0.5 and 1.0 year of age) was, on the average, delayed by 0.28 year. This accounts for the subnormality of ΔSDS at 0.5 to 3.0 years of age. About 50% of the variation in height at 12.0 years of age, as determined by a multiple linear regression analysis, was significantly explained by length at 0.5 year of age, age at the onset of the childhood component, and ΔSDS at 6.0 to 12.0 years of age.     

Serum insulin-like growth factor 1 and serum growth-promoting activity during the first postnatal year in infants with intrauterine growth retardation

Follow-up from birth to age 12 months was obtained in 21 infants born with intrauterine growth retardation. Serum insulin-like growth factor 1 was measured by radioimmunoassay. The bioassayable growth-promoting activity of the serum was measured as the "thymidine activity" on lectin-activated lymphocytes at 5 days and 1, 3, 6, 9, and 12 months, and was compared with control values. Depending on their length at age 12 months, the intrauterine growth retardation infants were divided into three groups: at or above the average (n = 8, group A), between the mean and -2 SD (n = 7, group B), or less than -2 SD (n = 6, group C). No differences in nutritional indexes or in head circumference were found between the three groups. Insulin-like growth factor 1 was significantly lower at age 5 days in intrauterine growth retardation than in control infants. It increased slowly in groups A and B to reach the control values at age 9 and 12 months. In group C it remained significantly subnormal at 1 yr of age. Thymidine activity was also significantly lower at age 5 days in intrauterine growth retardation compared with control infants. It increased sharply at age 1-3 months in groups A and B but remained significantly lower in group C up to 1 yr of age. Although individual values of insulin-like growth factor 1 and thymidine activity were closely correlated, the increase of length during the first postnatal year correlated significantly with the thymidine activity levels at 1 and 3 months but not with the insulin-like growth factor 1 levels at 1, 3, and 6 months.(ABSTRACT TRUNCATED AT 250 WORDS)     

Results of treatment with human growth hormone in children with pituitary insufficiency under 7 years of age. Study of 26 cases

Twenty-six children below age 7 years with idiopathic growth hormone deficiency have been treated with hGH for 2 years. Bone ages were inferior to 3 years and growth retardation averaged 3.9 +/- 0.9 standard deviation (SD) below the population mean. Results were compared to those obtained in a control group of 29 prepubertal patients, aged more than 7 years, and treated with hGH according to the same protocol. The mean height gains during the first and second year of treatment were respectively 8.4 +/- 1.8 cm and 6.6 +/- 1.5 cm. These values are significantly higher than those obtained in the group of older children. However within 2 years of treatment the initial catch-up in height of 0.9 +/- 0.6 DS was not different. In conclusion, we did not observe a better catch up growth in children before 7 years of age than in older prepubertal children, in spite of using higher doses of hGH.     

Growth in very preterm children: a longitudinal study

The knowledge about the long-term growth of very preterm children in relation to gestational age at birth is incomplete. Therefore, a retrospective study of longitudinal growth from birth to 7 y of age in 52 of 56 surviving children who were born at a gestational age of <29 wk between 1988 and 1991 to mothers resident in the city of G?teborg, Sweden, was performed. A majority of the children had an initial decrease in weight during the first months of life, followed by an increase, with a maximum weight gain occurring at 36-40 wk postmenstrual age. After a period of decreased weight and length velocity, a second increase in weight velocity was demonstrated from 6 mo to 2 y of corrected age. A corresponding increase in length velocity was found from 2 to 12 mo of corrected age. A later catch-up growth period was found at 4-5 y of age. At 7 y of age, all but two had reached the normal height range of the population. This long-term catch-up in height was established later in those who were born at an earlier gestational age. We conclude that all preterm infants had an initial period of poor growth, which rendered them growth retarded during the first years of life. It took approximately 4-7 y to overcome what the very preterm child lost in growth during the first months of life. However, as a group, they did reach normal height, weight, and weight for height before puberty.     

酶替代治疗戈谢病72例

目的通过对戈谢病患者的用药跟踪监测,综合评估酶制剂伊米苷酶(Imiglucerase)替代疗法(ERT)治疗戈谢病的效果。方法 1999年5月至2005年10月,ERT 治疗戈谢病72例,男46例、女26例,年龄1岁4个月～22岁。Ⅰ型57例、Ⅱ型2例、Ⅲ型13例。伊米苷酶初剂量60 U/kg,每2周1次静脉滴注,2年后剂量改为45 U/kg。每用药3～6个月,对患者进行身高、体重、血常规、肝脾容积测定、长骨 X 线等检查。结果 3例失访,4例死亡,正接受治疗65例。ERT 治疗12个月起,未切除脾脏患者的 Hb 和血小板值显著增加(P<0.01);ERT 治疗30个月时,已切除脾脏患者的Hb 值明显增加(P<0.01),而血小板值在 ERT 治疗中无明显改变(P>0.05)。肝、脾体积随时间显著回缩(P<0.01),治疗24个月肝脏缩小(39±17)%、脾脏缩小(59±21)%。治疗12个月,2～12岁患儿身高增长(8.6±4.3)cm,体重增加(2.6±1.7)kg,12～18岁患儿身高增长(5.2±3.9)cm,体重增加(4.5±3.3)kg。复查骨 X 线征象无明显改变、16例合并骨痛经治疗3个月即缓解;Ⅱ、Ⅲ型神经系统症状无改善;全部病例未发现严重的毒副作用。结论 ERT 可改善戈谢病患者全身症状:纠正贫血、血小板减少,使肝脾体积回缩,体格发育,骨痛缓解,从而提高其生存质量。     

Normal Growth of Nephrotic Children during Long-term Alternate-day Prednisone Therapy

ABSTRACT. Statural growth has been evaluated in 20 prepubertal nephrotic children who received alternate-day prednisone therapy for a year at least. Bone age was assessed in 16 of these children after 1-4 years of therapy. During the follow-up 12 children showed variations in height standard deviation score (SDs) below 0.5, 7 gained more than 0.5 SDs and 1 lost 0.5 SDs. Bone age fell within the normal range for chronological age in all the children studied. On the while alternate-day prednisone therapy does not affect statural growth and bone maturation of children with lipoid nephrosis.     

Height velocity in Argentinean girls with Turner's syndrome

Height velocities from birth to maturity derived from 1,049 height increments measured over intervals 0.85-1.15 years were studied from a sample of 187 patients with Turner's syndrome (TS) diagnosed on the basis of karyotype. Length of follow up in each girl varied from 1.0 to 11.0 years. Cross-sectional analysis showed a relatively stable growth velocity during pubertal ages. However, longitudinal analysis of individual growth curves showed the existence of a small growth spurt in 37 out of 47 girls with available data during pubertal years. Mean peak height velocity (PHV) of this spurt was 5.7 cm/year, SD 1.34; mean age at PHV was 12.66 years, SD 1.70. Selected percentiles were calculated using the least mean squares (LMS) method. Results show that a small growth spurt in girls with TS may be more frequent than previously thought.     

Normal growth of nephrotic children during long-term alternate-day prednisone therapy

Statural growth has been evaluated in 20 prepubertal nephrotic children who received alternate-day prednisone therapy for a year at least. Bone age was assessed in 16 of these children after 1-4 years of therapy. During the follow-up 12 children showed variations in height standard deviation score (SDs) below 0.5, 7 gained more than 0.5 SDs and 1 lost 0.5 SDs. Bone age fell within the normal range for chronological age in all the children studied. On the while alternate-day prednisone therapy does not affect statural growth and bone maturation of children with lipoid nephrosis.     

Growth and symptoms in Silver-Russell syndrome: Review on the basis of 386 patients

The spontaneous growth of 386 patients (163 girls and 223 boys) with Silver-Russell syndrome (SRS) was analysed in a mixed longitudinal and cross-sectional manner. One hundred and twenty patients were seen in the two centres between 1970 and 1993, additional definite cases were added from the literature. Mean (± SD) length of full-term babies with SRS at birth was 43.1±3.7 cm (n=102) in both sexes. Mean weight at birth was 1940±353 g in boys and 1897±325 g in girls. During the first 3 years of life there was poor growth with a further loss in height. Between ages 4 and 10 years there was constant growth in parallel to the 3rd percentile with a mean height SDS of –4.3. The pubertal growth spurt was reduced in the whole group. Bone age development paralleled growth, retardation increased during the first years, remained constant during prepubertal time and caught up in early puberty. Mean adult height was 151.2±7.8 cm in males and 139.9±9.0 cm in females. Head circumference for age was in the lower normal range (mean SDS for 156 prepubertal boys –1.8; mean SDS for 97 prepubertal girls 2.2).Conclusion Normative data on spontaneous growth of children with Silver-Russell syndrome are described, allowing a better counselling of patients as well as the judgement of the effects of growth promoting therapies.     

Assessment of differences in linear growth among populations in the WHO Multicentre Growth Reference Study

Aim: To assess differences in length/height among populations in the WHO Multicentre Growth Reference Study (MGRS) and to evaluate the appropriateness of pooling data for the purpose of constructing a single international growth standard. Methods: The MGRS collected growth data and related information from 8440 affluent children from widely differing ethnic backgrounds and cultural settings (Brazil, Ghana, India, Norway, Oman and the USA). Eligibility criteria included breastfeeding, no maternal smoking and environments supportive of unconstrained growth. The study combined longitudinal (birth to 24 mo) and cross-sectional (18–71 mo) components. For the longitudinal component, mother–infant pairs were enrolled at delivery and visited 21 times over the next 2 y. Rigorous methods of data collection and standardized procedures were applied across study sites. We evaluate the total variability of length attributable to sites and individuals, differences in length/height among sites, and the impact of excluding single sites on the percentiles of the remaining pooled sample. Results: Proportions of total variability attributable to sites and individuals within sites were 3% and 70%, respectively. Differences in length and height ranged from −0.33 to +0.49 and −0.41 to +0.46 standard deviation units (SDs), respectively, most values being below 0.2 SDs. Differences in length on exclusion of single sites ranged from −0.10 to +0.07, −0.07 to +0.13, and −0.25 to +0.09 SDs, for the 50th, 3rd and 97th percentiles, respectively. Corresponding values for height ranged from −0.09 to +0.08, −0.12 to +0.13, and −0.15 to +0.07 SDs.
Conclusion: The striking similarity in linear growth among children in the six sites justifies pooling the data and constructing a single international standard from birth to 5 y of age.