以低磷血症伴凝血及肝功能异常为首发表现的1型酪氨酸血症

患儿为26个月男孩,患低磷性佝偻病且伴凝血及肝功能异常,临床表现为走路不稳,鼻衄、恶心呕吐。通过对患儿低磷性佝偻病病因的剖析以及辅助化验检查的深入,患儿最终诊断为1型酪氨酸血症,由此,我们重新梳理了低磷性小儿佝偻病的诊疗流程。     

儿童低血磷性佝偻病12例临床特征分析简

目的 总结低血磷性佝偻病的临床、治疗和预后.方法对12例低血磷性佝偻病患儿的临床资料进行分析.结果 患儿均有佝偻病的表现.确诊年龄为1.5～10岁.2岁前确诊并治疗者骨骼畸形不明显;5岁后确诊治疗者,遗留较严重的骨骼畸形.结论 低磷性佝偻病早期治疗可明显减少骨骼畸形的发生.     

营养性佝偻病实验诊断指标检测分析

目的分析营养性佝偻病实验诊断的可靠性及临床应用价值。方法 287例营养性佝偻病患儿（初期98例、激期147例、恢复期42例）为观察组,选择同期住院的无佝偻病患儿94例作为对照组,进行血清25（OH）D3、碱性磷酸酶、钙、磷及尿钙、磷测定,并对检测结果进行分析。结果营养性佝偻病各期血清钙、磷及尿钙、磷与对照组比较,差异无统计学意义（P〉0.05）,营养性佝偻病各期间差异无统计学意义（P〉0.05）;营养性佝偻病各期血清碱性磷酸酶明显高于对照组,差异均有统计学意义（P〈0.01）,营养性佝偻病激期与初期、恢复期血清碱性磷酸酶比较,差异有统计学意义（P〈0.05）;营养性佝偻病初期、激期血清25（OH）D3明显低于对照组,差异均有统计学意义（P〈0.01）,营养性佝偻病恢复期血清25（OH）D3与对照组比较,差异无统计学意义（P〉0.05）。结论血清25（OH）D3降低是诊断营养性佝偻病初期、激期的可靠指标;血清碱性磷酸酶增高是临床诊断活动性营养性佝偻病的可靠指标;血清钙、磷及尿钙、磷均不能作为临床诊断活动性营养性佝偻病的指标。     

48例下肢疼痛晚发性佝偻病的临床分析

目的:分析探讨下肢疼痛晚发性佝偻病的临床症状。方法:选取2010年1月至2011年6月我院收治的48例下肢疼痛晚发性佝偻病患儿,对其临床诊治进行分析。结果:本组48例患儿经检查均确诊为儿童晚发性佝偻病,其主要症状为间歇性下肢疼痛。经对其进行维生素D及钙剂治疗,所有患儿疼痛症状均消失,并没有患儿症状反复,ALP均恢复正常。结论:儿童应当合理饮食,含丰富钙剂的食物,如奶制品、海产品以及豆类等,要多食用;同时要注重维生素D的适量补充,及足够的户外活动。     

血锌与小儿脑性瘫痪伴佝偻病的相关性研究

目的了解血锌与脑性瘫痪（简称脑瘫）伴佝偻病的关系。方法将112例脑瘫伴佝偻病患儿设为观察组,同期住院的脑瘫患儿94例设为脑瘫组,210例同龄正常儿童设为对照组。采末梢血进行血锌测定。结果观察组及脑瘫组血锌含量均低于对照组,差异均有统计学意义（P〈0.01）;观察组轻度缺锌率低于脑瘫组,重度缺锌率高于脑瘫组,差异均有统计学意义（P〈0.01）。结论脑瘫伴佝偻病患儿缺锌程度更为严重。     

谷城县集居儿童佝偻病调查分析

本文对谷城县3～6岁1942名集居儿童进行了佝偻病调查,共查出佝偻病患儿387人,患病率为19.92%。其主要原因与幼儿园户外活动时间,季节性补充维生素D,小儿常见疾病有关。     

参芪健儿汤治疗脾虚肝旺型佝偻病的临床观察

目的：观察参芪健儿汤治疗脾虚肝旺型佝偻病的疗效。方法对照组采用西医常规治疗脾虚肝旺型佝偻病患儿39例;治疗组口服参芪健儿汤治疗脾虚肝旺型佝偻病患儿37例,对其疗效进行对比分析。结果治疗组总有效率（94.6%）明显高于对照组（71.8%）,且差异有显著性（P〈O.01）。结论参芪健儿汤治疗脾虚肝旺型佝偻病是种有效的治疗措施。     

维生素D受体基因多态性与佝偻病关系的研究

探讨维生素D受体基因多态性与维生素D缺乏性佝偻病（佝偻病）遗传易感性的关系。方法 　应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP ）分析技术检测2003年10月至2004年10月159例佝偻病患儿和78名健康儿童（对照组）VDR基因BsmⅠ位点的多态性,比较两组之间VDR基因型和基因分布。结果　 佝偻病患儿和对照组儿童的VDR基因Bsm I位点基因型分布分别为：BB（0％）,Bb（15.7％）,bb（84.3％）和BB（0％）,Bb（11.5％）,bb（88.5％）,两组 间差异无统计学意义（P >0.05）;佝偻病患儿和对照组儿童的VDR基因Bsm I位点等位基因分布分别为：B（7.9％）,b（92.1％）和B（5.8％）,b（94.2％）, 两组间差异无统计学意义（P > 0.05）。结论　VDR基因BsmⅠ酶切位点的多态性与维生素D缺乏性佝偻病的遗传易感性相关关系尚须大样本进一步确定。     

维生素D受体基因BsmI多态性与儿童佝偻病的关系研究

目的研究维生素D受体(VDR)基因BsmI多态性分布，以及与维生素D缺乏性佝偻病的关系,探讨其遗传易感性。方法对象为41例维生素D缺乏性佝偻病患儿和68例健康对照组儿童，均为山西籍汉族儿童，应用聚合酶链反应 限制性片段长度多态性分析(PCR RFLP)等技术测定VDR基因BsmI多态性,比较两组基因型和等位基因的分布频率，并用Hardy Weinberg遗传平衡检验方法进行基因分布遗传平衡吻合度检验。结果佝偻病患儿组Bb、bb基因型分布频率分别为14.6%和85.4%，健康对照组儿童Bb、bb基因型分布频率分别为19.1%、80.9%。病例组等位基因B、b分布频率分别为7.35%、92.7%，对照组等位基因B、b分布频率分别为9.6%、90.4%，佝偻病组和正常对照组VDR基因型Bb、bb分布频率和等位基因分布频率间没有显著性差异。BsmI多态性分布极不平衡，bb型最多占80.9%，b位点占90.4%，是优势基因。结论VDR基因BsmI酶切位点多态性与维生素D缺乏性佝偻病发病无明显相关性。     

小儿佝偻病诊断与骨碱性磷酸酶检测相关性分析

目的探究小儿佝偻病诊断与骨碱性磷酸酶检测的相关性及检测价值。方法选取2014年10月至2016年1月湖南省儿童医院骨科收治住院的小儿佝偻病患儿62例作为观察组,选取同期本院健康体检儿童62例作为正常对照组,采用碘硝基四氮唑紫法检测骨碱性磷酸酶活性,采用偶氮砷法检测血钙情况,对骨碱性磷酸酶与影响因素进行相关分析。结果观察组骨碱性磷酸酶异常检出率为96.77%(60/62),显著高于正常对照组45.16%(28/62),差异有统计学意义(P0.05);观察组血钙异常检出率为22.58%(14/62),显著高于正常对照组1.61%(1/62),差异有统计学意义(P0.05)。Spearman相关性分析表明,惊厥、挑食、多汗以及缺少维生素D与碱性磷脂酸酶活性存在正相关(P0.05)。结论小儿佝偻病诊断与骨碱性磷酸酶活性密切相关,由骨碱性磷酸酶检测能够完成对小儿佝偻病的诊断。     

Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic rickets.

Hypophosphatemic rickets is a genetic disorder commonly associated with renal phosphate wasting and bone deformities. The PHEX gene (phosphate regulating gene with homologies to endopeptidases on the X chromosome) encodes a 749-amino acid protein that putatively consists of an intracellular, transmembrane, and extracellular domain. PHEX mutations have been observed in 60-80% of hypophosphatemic rickets patients. In this study, we report 2 de novo novel mutations in 2 Taiwanese girls with clinical characteristics of hypophosphatemic rickets. The presenting phenotype of lower extremity deformities and short stature was suggestive of the diagnosis. Primers flanking 22 exons were used to amplify DNA by polymerase chain reaction. The results by direct DNA sequencing of case 1 revealed a C to T transition changing glutamine at codon 224 in exon 6 to a stop codon (Q224X). The result of case 2 showed a 2-base pair deletion (2090delGA) and resulted in a frameshift and premature termination of codon (PTC+19aa). Both mutations presumably result in a truncated protein, leading to loss of function of PHEX. This is the first report of PHEX gene mutation in the Taiwanese population.     

Vitamin D and the breastfed infant

For infants and children, vitamin D deficiency causes a bone-deforming disease known as rickets. As breastfeeding rates have increased, so have the incidences of rickets. The current recommendation from the American Academy of Pediatrics, to supplement all breastfed infants with vitamin D, is controversial. The role of the nurse is to understand the vitamin D dilemma, promote breastfeeding, and prevent vitamin D deficiency rickets.     

不同纬度下维生素D受体基因多态性 与佝偻病易感性关联性Meta分析

目的    探讨4个常见维生素D受体（VDR）基因位点（ForkI、BsmI、ApaI、TaqI）单核苷酸多态性（SNPs）与佝偻病易感性关联性并探讨日照量对其的影响。方法    制定原始文献的纳入和排除标准及检索策略。检索1980年1月至2011年1月中国期刊全文数据库（CNKI）、中文科技期刊数据库（VIP）、数字化期刊全文数据库（万方）、中国生物医学文献数据库（CBM）及PubMed、CALIS、Science Direct 数据库中4个位点SNPs与佝偻病易感性关联性关系为研究内容的文献,提取数据。对研究间异质性进行检验并选用适当模型对总人群及高、低纬度两个亚组人群分别进行数据合并,得出合并比值比（OR）及95%置信区间（CI）。探讨研究间异质性来源,最后进行影响性分析及发表偏倚检验。结果    共纳入22篇文献。Meta分析结果显示,ForkI位点总人群及亚组人群显性、隐性、共显性遗传模型分析均提示病例f等位基因暴露比低于对照组,差异具有统计学意义。总人群3个遗传模型合并OR（95%CI）分别为0.40（0.25～0.65）、0.41（0.31～0.55）、0.50（0.38～0.67）;高纬度人群分别为0.48（0.25～0.93）、0.43（0.23～0.80）、0.55（0.39～0.78）;低纬度人群分别为0.38（0.21～0.69）、0.41（0.29～0.57）、0.48（0.34～0.68）。BsmI位点总人群显性、共显性模型及高纬度人群3个遗传模型分析均提示病例B等位基因暴露比高于对照组,差异有统计学意义（P＜0.05）。总人群显性、共显性模型合并OR（95%CI）分别为2.15（1.11～4.16）、1.85（1.09～3.16）;高纬度人群3个遗传模型合并OR（95%CI）分别为2.86（1.33～6.16）、3.93（1.11～13.89）、2.66（1.33～5.31）;低纬度人群差异无统计学意义。ApaI位点仅在总人群隐性模型分析中发现其多态性与佝偻病易感性关联有统计学意义。TaqI位点仅在总人群及高纬度人群隐性模型分析中发现其多态性与佝偻病易感性关联有统计学意义。影响性分析显示Meta分析结果稳定,可信度较高。结论    ForkI位点f等位基因可降低佝偻病易感性;BsmI位点B等位基因使日照贫乏地区人群更易患佝偻病;ApaI、TaqI位点SNPs可能与佝偻病易感性无关。ForkI、BsmI位点与佝偻病易感性关联可能受研究对象日照暴露量影响。     

Practices of vitamin D recommendation in Las Vegas, Nevada.

Reports of vitamin D deficiency rickets, although rare in the United States, have increased over the past few years, including in children living in climates with abundant sunshine. The purpose of this study was to describe vitamin D recommendation practices among pediatric health care providers in Las Vegas, Nevada. Of the 155 providers surveyed, 52.3% did not recommend vitamin D for exclusively breastfed babies. Providers who were more likely to recommend supplementation were doctors of medicine, were female, specialized in pediatrics, were of Hispanic ethnicity, had previously practiced and trained in states less sunny than Nevada, had graduated from training 21 or more years previously, had taken histories of infants' sun exposure, and had clinical experience with cases of rickets. Providers demonstrated a knowledge deficitforquestions that dealt with preventive measures.     

Skeletal dysplasias with osteopenia in the newborn: The value of alkaline phosphatase

Alkaline phosphatase is a commonly measured enzyme in clinical practice. Normal, excessively elevated and depressed serum or plasma levels have clinical value in the approach to the differential diagnosis of skeletal dysplasias associated with osteopenia in the newborn period. Two cases are described to illustrate this contention. In the first case we describe a neonate with congenital hypophosphatasia and markedly depressed levels of plasma alkaline phosphate, and in the second case we report a patient with a fracture of the femur, congenital rickets and an elevated alkaline phosphate level. In skeletal dysplasias with osteopenia, the nature of the abnormality in alkaline phosphate values, in association with that of calcium and phosphate, is an invaluable diagnostic aid in differential diagnosis.     

Skeletal dysplasias with osteopenia in the newborn: the value of alkaline phosphatase.

Alkaline phosphatase is a commonly measured enzyme in clinical practice. Normal, excessively elevated and depressed serum or plasma levels have clinical value in the approach to the differential diagnosis of skeletal dysplasias associated with osteopenia in the newborn period. Two cases are described to illustrate this contention. In the first case we describe a neonate with congenital hypophosphatasia and markedly depressed levels of plasma alkaline phosphate, and in the second case we report a patient with a fracture of the femur, congenital rickets and an elevated alkaline phosphate level. In skeletal dysplasias with osteopenia, the nature of the abnormality in alkaline phosphate values, in association with that of calcium and phosphate, is an invaluable diagnostic aid in differential diagnosis.     

Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation

In the course of evaluating a 17 months old boy with waddling gait and swollen joints, we found generalized, severe ossification defects in the metaphyses of his long bones. The differential diagnosis included nutritional or genetic rickets, metaphyseal dysplasia, and enchondrodysplasia. Calcium, phosphate and alkaline phosphatase were normal, while targeted analysis of urinary organic acids repeatedly revealed excretion of 2-hydroxy-glutaric acid. Thus, this child appears to have an unusual combination of findings described in just two other patients so far, a girl and a boy, and called 'spondyloenchondrodysplasia with D-2-hydroxy-glutaric aciduria'. These three cases are similar in terms of severe metaphyseal lesions, mild vertebral involvement, and presence of 2-hydroxy-glutaric acid in the urine. We consider this a radiographically and biochemically distinct entity, for which we suggest the name of 'metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria'.