遗传相关性低镁血症

镁离子在体内参与多种生化代谢反应,对各器官系统发挥正常生理功能起重要作用.体内镁离子的平衡主要依赖于肠道镁吸收和肾脏镁排泄的精密调节.遗传性低镁血症包括家族性低镁血症合并高尿钙和肾钙质沉着、常染色体显性遗传低镁血症合并低尿钙、家族性低镁血症继发低钙血症、常染色体显性遗传低钙血症等.近年来,对于这些遗传性低镁血症的基因研究及相关蛋白质功能研究使人们对体内镁离子转运机制有了更深一步的认识.     

新生儿颅内出血与低钙低镁血症

为了探讨新生儿颅内出血与低钙低镁血症的关系，本文作者对３６例新生儿颅内出血患者进行了血清钙、镁的检测。结果低血钙２２例，低镁６例，钙镁均低者５例。说明新和儿因可导致低钙低镁血症．     

低镁血症65例临床分析

低镁血症在儿科临床并非少见,现将我科自1985年6月至1990年5月通过血清镁检测确诊为低镁血症的65例,临床分析如下。临床资料一、检测方法血镁检测采用达旦黄比色     

低镁血症：附64例分析

镁缺乏可引起多系统的功能障碍,临床易被忽略。现将我科近年收治的64例低镁血症分析如下。临床资料一、一般资料64例中男39例,女25例。年     

新生儿低镁并低钙血症14例临床分析

对14例新生儿低镁并低钙血症进行了临床分析。年龄<3天8例,～15天3例,～28天3例,牛乳喂养11例,母乳喂养1例,混合喂养2例,有原发疾病12例。所有病例均表现为程度不同的惊厥。血清镁均低于0.6mmol/L,血清钙均低于1.75mmol/L。除积极治疗原发病外,同时补充钙镁。有2例死于原发病,余12例均治愈。并对新生儿低镁并低钙血症的病因、临床表现、预防及治疗进行了讨论。     

儿童低镁血症70例临床分析

低镁血症在儿科临床并非罕见,因其临床表现或类似低钙血症,或不典型,易被漏诊。我科自1994年以来对可疑病例进行了血清镁检测,确诊70例伴有低镁血症,现报告如下。     

新生儿低镁血症(附17例临床报告)

本文报道了17例新生儿低镁血症，以早产儿、早期新生儿、牛乳喂养儿多见。低镁时往往同时存在低钙或新生儿时期的其他疾病，其临床症状难以与低钙血症鉴别或被原发病掩盖。应及早进行血清镁测定，以提高诊断率。治疗时单纯低镁者仅补镁即可，对同时低钙者也强调先补镁盐。     

原发性低镁血症继发低钙血症的TRPM6基因复合杂合突变1例

回顾性分析浙江大学医学院附属儿童医院收治的1例原发性低镁血症继发低钙血症患儿的临床资料及随访资料。患儿为8月龄男童,临床表现为婴儿期出现的惊厥、生长发育迟缓、精神发育迟滞。通过补镁等对症治疗后患儿临床症状缓解。最终通过亚全外显子测序,检测到患儿TRPM6基因的复合杂合突变,分别为c.5386A>T(p.K1796X)和c.453_454del(p.M151fs)。提示基因检测是确诊该病的金标准,本研究发现TRPM6基因的2种新的突变。     

窒息后脑损伤并新生儿低钙,低镁血症21例

窒息后脑损伤并新生儿低钙、低镁血症２１例江苏盐城市妇幼保健院（２２４００２）魏建芳本文对２１例窒息后脑损伤并低钙、低镁血症，就其病因、临床表现、预防、治疗进行分析。临床资料性别及年龄２１例为我科１９９３年以来收治的病人。经头颅ＣＴ确诊为ＩＣＨ８例，Ｈ...     

Red cell phosphoglucomutase (PGM)-deficiency: Hereditary defect of the PGM1-locus

Reduced phosphoglucomutase (PGM) activity (approximately 25% of normal) was found in erythrocytes from a healthy newborn infant. The PGM activity was also diminished (approximately 50% of normal) in the erythrocytes of the parents. No PGM₁ isoenzymes were found in the erythrocytes of the propositus, as demonstrated by starch gel electrophoresis. Both parents showed a normal distribution of the PGM₁ isoenzymes. We propose a heterozygous state in the parents for a gene determining the activity of the PGM₁ isoenzymes and that no activity of the PGM₁ isoenzyme could be detected in the erythrocytes of the propositus because of his homozygous state. In neonatal screening for galactosaemia red cell PGM deficiency gives false positive results, as does glucose-6-phosphate dehydrogenase deficiency.     

MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17-KETOSTEROID REDUCTASE

ABSTRACT. A 12.9 year-old girl, genotypically 46, XY, and considered to have a testicular feminization syndrome, developed signs of virilization and gynaecomastia. Very high androstenedione concentrations (10-fold the mean of the reference interval in boys) in relation to low normal testosterone in peripheral serum indicated a 17-ketosteroid reductase deficiency. In addition to androstenedione, the basal peripheral levels of 17-hydroxyprogesterone and estrone were increased, being 5- and 3-fold the mean of the reference interval, respectively, whereas pregnenolone, progesterone, dehydroepiandrosterone, 5α-dihydrotestosterone and estradiol concentrations were within pubertal stage-appropriate reference intervals. The total spermatic vein serum steroid concentrations were about 5-fold the mean in old men, and androstenedione, estrone and dehydroepiandrosterone were particularly elevated, whereas estradiol was normal and testosterone subnormal by a factor of 1/8. In the testis tissue, the concentration of androstenedione was extremely high, whereas that of testosterone tended to be relatively low. Our patient was obviously producing testicular steroids at her maximal rate, because no response to hCG administration was observed. This state was assiociated with a high-normal circulating LH concentration. The concentration of testicular LH/hCG receptors was only one-fifth of that seen in old men, which may have resulted from receptor down-regulation associated with a high degree of stimulation.     

Evaluation and management of patients with propionic acidemia undergoing liver transplantation: a comprehensive review

Propionic acidemia is a rare metabolic disorder that often results in episodic hyperammonemia, basal ganglia infarction, mental retardation, and cardiomyopathy. OLT has been used as a treatment for propionic acidemia, but its benefit in patients with this disease is unclear. The current study was undertaken to clarify the role of OLT in the management of this disease. The medical literature, a national registry of US OLT recipients, and a single institution liver transplant experience were reviewed for cases of OLT for propionic acidemia. Accumulated cases demonstrate that OLT has resulted in clear evidence of clinical improvement in several patients, often obviating the need for dietary restriction or other forms of medical management. OLT appears to halt the decline in neurocognitive function often associated with propionic acidemia. In total, 12 patients with propionic acidemia have undergone a total of 14 OLTs. A quantitative analysis of outcomes shows an overall patient survival rate of 72.2% at one year after OLT. In conclusion, OLT should be considered a treatment option for patients with propionic acidemia who continue to experience episodes of hyperammonemia in spite of maximal medical therapy. Early OLT may limit the development of mental retardation and/or cardiomyopathy.     

Metabolic emergencies and the emergency physician

Fifty percent of inborn errors of metabolism are present in later childhood and adulthood, with crises commonly precipitated by minor viral illnesses or increased protein ingestion. Many physicians only consider IEM after more common conditions (such as sepsis) have been considered. In view of the large number of inborn errors, it might appear that their diagnosis requires precise knowledge of a large number of biochemical pathways and their interrelationship. As a matter of fact, an adequate diagnostic approach can be based on the proper use of only a few screening tests. A detailed history of antecedent events, together with these simple screening tests, can be diagnostic, leading to life‐saving, targeted treatments for many disorders. Unrecognised, IEM can lead to significant mortality and morbidity. Advice is available 24/7 through the metabolic service based at the major paediatric hospital in each state and Starship Children's Health in New Zealand.     

预防接种与遗传代谢性疾病

<正>预防接种泛指用人工制备的疫苗类制剂(抗原)或免疫血清类制剂(抗体)通过适宜的途径接种到机体,使个体和群体产生对某种传染病的自动免疫或被动免疫,其目的     

Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I

Aim: To review the heterogeneity and severity of the clinical features at the attenuated end of the mucopolysaccharidosis (MPS) type I disease spectrum. Methods: The course of disease in 29 patients with attenuated mucopolysaccharidosis I who attended the MPS clinic in Manchester, UK, was reviewed. Results: For more than half of the patients, onset of symptoms was in the first 2 y of life, and the age at diagnosis ranged from 15 mo to 40 y. Joint stiffness, corneal clouding, umbilical hernia and recurrent ear, nose and throat symptoms were the commonest features at presentation. Patients experienced significant morbidity during the course of this inherited disease. Skeletal problems predominated and cardiac valve pathology, upper airway obstruction and hearing deficits were detected in a notable number of patients. Nerve decompression for carpal tunnel syndrome, cervical cord decompression, and grommet insertion for serous otitis media were the most frequent surgical interventions.

Conclusion: Clinical presentation of attenuated (“non-Hurler”) mucopolysaccharidosis type I is heterogeneous in time of onset and types of clinical features. A better understanding of the spectrum of disease and of the related disease progression will contribute to more accurate diagnosis, and patients will benefit from early intervention.     

婴儿痉挛症患儿先天性代谢异常筛查

目的 探讨婴儿痉挛症(IS)患儿中不同先天性代谢异常情况,以利早期进行病因及对症治疗.方法 采用气相色谱-质谱法对30例IS患儿尿标本进行氨基酸、有机酸、脂肪酸、糖、核苷酸等代谢异常筛查,并进行尿常规、肝功能、血生化、脑部影像学及脑干听、视觉诱发电位等检查.结果 30例IS患儿中,23例(76.67％)尿筛查异常,其中甲基丙二酸尿症及酮性双羧酸尿症各4例(13.33％),非酮性双羧酸尿症3例(10.00％),苯丙酮尿症、戊二酸尿症、乳酸尿症和丙酸尿症各2例(6.67％),焦谷氨酸尿症、4-羟基苯丙酮酸尿症、色氨酸尿症及乳糖和半乳糖代谢异常各1例(3.33％).23例尿筛查异常病例均有不同程度的智力运动发育落后或倒退(100％).其中头颅CT或MRI异常12例(52.17％),脑干诱发电位异常20例(86.96％),肝功能异常3例(13.04％),血生化异常4例( 17.39％),尿常规酮体阳性(+～++)3例(13.04％).结论 先天性代谢异常是IS重要致病原因,对IS患儿应尽早进行先天性代谢异常筛查和遗传咨询,以助早期治疗及改善预后.