儿科重症医学与遗传代谢病

遗传代谢病患儿经常以严重酸中毒、高氨血症、脑水肿、昏迷、嗜睡、抽搐、呕吐、肌无力、黄疸、呼吸困难等症状在PICU住院,小儿重症医学科医生应重视对遗传代谢病诊断和治疗的认识,提高对遗传代谢病的诊治水平.本文介绍了小儿重症医学科医生应基本掌握的遗传代谢病的概念、临床表现、诊断方法和基本治疗方法,并提出了对遗传代谢病重症危象患儿血液净化治疗的重要性.     

从遗传性聋基因筛查到基因诊断——我们的路还有多远

聋病是人类常见的致残性疾病,2013年世界卫生组织(WHO)发布的最新评估数据显示,全球目前共有3.6亿人存在不同程度的听力障碍,占全球总人口的5%,而中国的听力残疾人有2780万,居各类残疾之首(33%)。其中60%的聋是由遗传因素引起的遗传性聋(hereditary hearing loss,HHL)。依据是否伴随其他组织器官症状,可将遗传性聋分为非综合征性聋(nonsyndromic hearing loss,NSHL)和综合征性聋     

Is adermatoglyphia an additional feature of Kindler Syndrome?

A typical feature of Kindler Syndrome is skin fragility; this condition in currently classified as a form of epidermolysis bullosa. We describe a rarely reported feature of two cases, one sporadic and one familial; both patients noticed acquired adermatoglyphia. The loss of dermatoglyphics could be an additional feature of this syndrome.     

Mongolian spots: How important are they?

Mongolian spots (MS) are congenital birthmarks seen most commonly over the lumbosacral area. They are bluish-green to black in color and oval to irregular in shape. They are most commonly found in individuals of African or Asian ethnic background. Although these lesions resolve by one to two years of age, widespread, extrasacral and dark colored MS sometimes persist into adulthood. Aberrant MS over occiput, temple, mandibular area, shoulders and limbs may be confused with other dermal melanocytoses and bruises secondary to child abuse, thus necessitating documentation at birth. Although traditionally believed to be benign in nature, they have now been shown to co-exist with inborn errors of metabolism, most commonly GM1 gangliosidosis and mucopolysaccharidosis type I (Hurler’s disease), followed by mucopolysaccharidosis type II (Hunter’s syndrome), mucolipidosis, Niemann-Pick disease and mannosidosis. They have also been seen to co-exist with various vascular or other pigmented birthmarks like café-au-lait macules. Co-existing Mongolian spots and vascular birthmarks like nevus flammeus, nevus anemicus or nevus spilus is termed as phakomatosis pigmentovascularis. This review focuses on the important associations of Mongolian spots and stresses upon the importance of screening babies with extensive MS.     

Risk of neurodevelopmental impairment for outborn extremely preterm infants in an Australian regional network

Objective: To compare neurodevelopmental outcomes at 2–3 years in extremely premature outborn and inborn infants.

Design: Population-based retrospective cohort study.

Setting: Geographically defined area of New South Wales (NSW) and the Australian Capital Territory (ACT) served by a network of 10 neonatal intensive care units (NICUs).

Patients: All premature infants?<29 weeks gestation born between 1998 and 2004 in the setting.

Intervention: At 2–3 years, corrected age, 1473 children were assessed with either the Griffiths Mental Developmental Scales (GMDS) or the Bayley Scales of Infant Development (BSID-II).

Main outcome measure: Moderate/severe functional disability (FD) defined as: developmental delay (GMDS general quotient (GQ) or BSID-II mental developmental index (MDI))?>?2 standard deviations (SD) below the mean; cerebral palsy (CP) requiring aids; sensorineural or conductive deafness (requiring amplification); or bilateral blindness (visual acuity?<6/60 in better eye).

Results: At 2–3 years, moderate/severe functional disability does not appear to be significantly different between outborn and inborn infants (adjusted OR 0.782; 95% CI 0.424–1.443). However, there were a significant number of outborn infants lost to follow up (23.3% versus 42.9%).

Conclusion: In this cohort, at 2–3 years follow up neurodevelopmental outcome does not appear to be significantly different between outborn and inborn infants. These results should be interpreted with caution given the limitation of this study.     

小儿先天性下睑倒睫39例的手术治疗

目的评价下直肌与周围眼睑组织间钝分离术治疗先天性下睑内翻倒睫的效果。方法应用下直肌与周围眼睑组织间钝分离术治疗先天性下睑内翻倒睫。结果本组39例中治愈33例,好转3例。失败3例。总有效率92．3％。结论正确判断病因,下直肌与周围眼睑组织间钝分离术方法简单,痛苦少,效果好。     

Incomplete pediatric reference intervals for the management of patients with inborn errors of metabolism

OBJECTIVES: To evaluate the status of pediatric reference intervals for several biomarkers of inborn errors of metabolism (IEM). INTRODUCTION: There are several biomarkers that are used in many laboratories that specialize in biochemical genetics. Among them, there are acylcarnitines, total carnitine, amino acids, essential fatty acids, phytanic acid and very long chain fatty acids. These tests are key to exclusion or inclusion of an IEM, therefore appropriate age-related references intervals are crucial. A detailed review of each selected analyte is given. RESULTS: Published reference intervals do not always address the dependency of age, gender, or ethnic background; they are not established for newer laboratory methodologies and are derived from a limited number of healthy controls for most markers. CONCLUSIONS: To address the gap in pediatric reference intervals, the Canadian research project (CALIPER database) will establish comprehensive reference intervals for acylcarnitines, total carnitine, amino acids, essential fatty acids, phytanic acid, and very long chain fatty acids. All the tests will be limited to whole blood, plasma and serum samples.     

Motor neuron disease in inherited neurometabolic disorders

Inherited neurometabolic disorders represent a growing group of inborn errors of metabolism that present with major neurological symptoms or a complex spectrum of symptoms dominated by central or peripheral nervous system dysfunction. Many neurological presentations may arise from the same metabolic defect, especially in autosomal-recessive inherited disorders. Motor neuron disease (MND), mainly represented by amyotrophic lateral sclerosis, may also result from various inborn errors of metabolism, some of which may represent potentially treatable conditions, thereby emphasizing the importance of recognizing such diseases. The present review discusses the most important neurometabolic disorders presenting with motor neuron (lower and/or upper) dysfunction as the key clinical and neuropathological feature.