Perinatal thrombocytopenia of maternal origin]

Maternal causes of perinatal thrombocytopenia include neonatal alloimmune thrombocytopenia, autoimmune disorders, intrauterine infections and hypertensive diseases. The diagnosis of these pathologies is difficult because they can occur in sick neonates, but also in healthy babies without a history suggesting illness. The treatment has to be quickly established in order to decrease eventual hemorrhagic complications. These latter can be amplified by several clinical circumstances and especially by the platelet immaturity of this time of life. The risk of recurrence for the next pregnancies has to be determined and can lead to diagnostic or therapeutic measures during the antenatal period.     

Immunological features of diffuse connective tissue diseases

Diffuse connective tissue diseases (DCTD) represent an heterogeneous group of disorders characterized by systemic inflammatory reactions that are currently classified on clinical grounds. Their aetiopathogenesis is largely unknown and appears to be very complex, associating exogenous factors with an immunogenetic predisposition. In the last decade, studies on human leukocyte antigen (HLA)-disease associations and antinuclear antibodies have provided some useful clues for the diagnosis and clinical management of DCTD.     

儿童起病的混合性结缔组织病1例报告并文献复习

目的探讨儿童起病的混合性结缔组织病(MCTD)的临床特点及治疗方法,提高对该病的认识水平。方法以1例首发为雷诺现象的MCTD为例,对儿童起病MCTD的诊断和治疗进行分析概述。结果MCTD具多种结缔组织病临床特点重叠表现,儿童以雷诺现象起病者较成人少见,其首发症状变化多样,缺乏特异性表现,雷诺现象可持续在MCTD整个病程中,并与疾病演变相关,高滴度抗核糖核蛋白(抗U1RNP)抗体阳性是诊断MCTD必备条件之一。MCTD的预后个体差异很大,根据病程、受累脏器程度及进展速度选择个体化治疗方案。结论应重视儿童起病MCTD的早期诊断,及时治疗,减少误诊,加强随访。     

儿童混合性结缔组织病9例临床分析

目的总结分析儿童混合性结缔组织病(MCTD)的临床及转归特点。方法对2001—2009年间确诊为MCTD的9例患儿的临床表现、实验室检查、诊治及随访情况进行总结分析。结果 9例患儿均有雷诺现象,其次常见的症状包括关节肿痛、手指肿胀、硬指、发热、乏力、贫血、活动后气短等。血液系统受累4例,其中3例轻度贫血,1例血小板减少。1例肾活检提示符合狼疮肾炎IIA型。实验室指标中红细胞沉降率增快8例,IgG升高7例,C4降低3例,CH50升高5例,CK升高4例(该4例患儿均行肌电图检查,3例未见明显肌源性损害,1例为可疑肌源性损害)。自身抗体ANA阳性9例,抗U1-RNP抗体阳性9例,抗SSA抗体低滴度阳性3例。6例行肺功能检查,4例存在弥散功能障碍。6例行肺部高分辨CT检查,2例示肺间质病变。超声心动图检查示肺动脉高压3例,合并右心增大、主动脉增宽2例,轻度肺动脉高压1例,合并少量心包积液1例。3例行食管造影检查,未见明显食管蠕动障碍。多数患儿入院前曾诊断为系统性红斑狼疮、幼年特发性关节炎、雷诺现象、结缔组织病、发热原因待查等,不规律接受激素或免疫抑制剂治疗者4例。9例患儿经确诊后予规范激素和(或)免疫抑制剂治疗,8例病情好转,1例病情控制无明显进展,无死亡病例。结论儿童MCTD为多系统受累,早期以雷诺现象、关节症状、发热多见,在尚未出现肺部症状时可存在肺功能、肺部高分辨CT异常,可伴有肺动脉高压,误诊率较高。早期完善相关免疫指标、超声心动图、肺功能、肺部高分辨CT、食管造影等检查可帮助诊断。规范的激素及免疫抑制剂治疗对病情转归及预后极为重要,需长期对患儿进行随访观察。     

Nine cases analysis of pediatric mixed connective tissue disease

目的 总结分析儿童混合性结缔组织病(MCTD)的临床及转归特点.方法 对2001-2009年间确诊为MCTYD的9例患儿的临床表现、实验室检查、诊治及随访情况进行总结分析.结果 9例患儿均有雷诺现象,其次常见的症状包括关节肿痛、手指肿胀、硬指、发热、乏力、贫血、活动后气短等.血液系统受累4例,其中3例轻度贫血,1例血小板减少.1例肾活检提示符合狼疮肾炎IIA型.实验室指标中红细胞沉降率增快8例,IgG升高7例,C4降低3例,CH50升高5例,CK升高4例(该4例患儿均行肌电图检查,3例未见明显肌源性损害,1例为可疑肌源性损害).自身抗体ANA阳性9例,抗Ul-RNP抗体阳性9例,抗SSA抗体低滴度阳性3例.6例行肺功能检查,4例存在弥散功能障碍.6例行肺部高分辨CT检查,2例示肺间质病变.超声心动图检查示肺动脉高压3例,合并右心增大、主动脉增宽2例,轻度肺动脉高压1例,合并少量心包积液1例.3例行食管造影检查.未见明显食管蠕动障碍.多数患儿入院前曾诊断为系统性红斑狼疮、幼年特发性关节炎、雷诺现象、结缔组织病、发热原因待查等,不规律接受激素或免疫抑制剂治疗者4例.9例患儿经确诊后予规范激素和(或)免疫抑制剂治疗,8例病情好转,1例病情控制无明显进展,无死亡病例.结论 儿童MCTD为多系统受累,早期以雷诺现象、关节症状、发热多见,在尚未出现肺部症状时可存在肺功能、肺部高分辨CT异常,可伴有肺动脉高压,误诊率较高.早期完善相关免疫指标、超声心动图、肺功能、肺部高分辨CT、食管造影等检查可帮助诊断.规范的激素及免疫抑制剂治疗对病情转归及预后极为重要,需长期对患儿进行随访观察.     

警惕儿童结缔组织疾病合并结核感染

结缔组织病患儿本身存在多种免疫紊乱,大剂量皮质激素、免疫抑制剂的应用加重了细胞免疫缺陷,生物制剂进一步增加了结核感染的风险.结缔组织病合并结核感染临床表现复杂,有时很难鉴别是原发疾病活动还足结核感染.肺部影像学检查是临床诊断结核病的主要手段,QFT-G试验和T-SPOT.TB开辟了辅助诊断新途径.应详细询问结核接触史、卡介苗接种史,常规进行血清结核杆菌抗体检测及PPD皮试.临床高度提示结核感染者,应给予诊断性抗结核治疗.     

妊娠中期母亲铁营养对婴儿早期铁营养状况影响的研究

目的 研究母亲妊娠中期铁营养对婴儿早期铁营养状况的影响.方法 测定母亲妊娠中、后期及脐血血清铁蛋白(zerum ferritin,SF)及血常规,随访至婴儿3～5月龄测婴儿血常规、血清可溶性转铁蛋白受体(soluble transferrin receptor,sTIR).比较母亲不同铁营养状况与婴儿血清sTIR水平关系.结果 (1)100对母亲-婴儿完成全程随访,婴儿有39例铁缺乏,92.31%(36/39)的母亲妊娠中期铁缺乏.(2)母亲妊娠中期患铁缺乏症的婴儿早期铁缺乏检出率明显高于母亲中期铁营养正常婴儿(X2=11.567,P<0.005),母亲妊娠中期为缺铁性贫血的婴儿铁缺乏症检出率明显高于母亲妊娠中期为隐性铁缺乏的婴儿铁缺乏症检出率(X2=7.356,P<0.01);母亲妊娠中期缺铁的婴儿早期血清sTIR值明显增高(P<0.005);妊娠中期母亲存在缺铁性贫血、隐性铁缺乏的婴儿血清sTfR值差异无统计学意义(P>0.05).(3)妊娠中期母亲SF水平与3～5月龄婴儿sTIR值存在负相关性(r=-0.7552,P<0.01).结论 3～5月龄健康婴儿的贫血可能同胎儿期铁贮存不足有关;母亲妊娠中期缺铁可减少胎儿期铁贮存,影响婴儿早期的铁营养水平.     

Perinatal symptomatology of severe neuromuscular diseases. Apropos of 11 cases

The neonatal diagnosis of neuro-muscular diseases is difficult. From a series of 11 neonates presenting with such diseases, ante and postnatal semiology has been studied. During pregnancy, hydramnios (7/11) and decreased active movements were the most frequent symptoms. Delivery was often dystotic (7/11). After birth, respiratory distress, lack of motility, hypotonia, and muscle and tendon retraction were the clinical manifestations (10/11). Knowledge of this semiology should facilitate the ante and postnatal screening of affected patients. The diagnosis depends on family history and, overall, on the results of muscle biopsy.     

Perinatal features of congenital cystic lung diseases: results of a nationwide multicentric study in Japan

Purpose

The current study aimed to assess the perinatal risk and clinical features of congenital cystic lung diseases (CCLD).

Materials and methods

Of the 874 CCLD patients identified in a nationwide survey, 428 patients born between 1992 and 2012 and treated at 10 high-volume centers, were retrospectively reviewed.

Results

Fetal hydrops was visualized using MRI in 9.2 % of the patients. Prenatal interventions were described for 221 of the 428 patients, including the maternal administration of steroid and pleuro-amniotic shunting. Postnatally, a right-to-left shunt flow through a persistent ductus arteriosus was observed in 7.8 % of the patients. The fetal lung lesion volume ratio (LVR) was significantly higher among these symptomatic patients (2.04 ± 1.71 vs. 0.98 ± 0.50, P < 0.00071), and decreased to a greater degree in non-CCAM patients compared with CCAM patients during the late gestational period (from 1.37 ± 1.28 to 1.14 ± 0.84 in CCAM and from 1.08 ± 0.47 to 0.46 ± 0.64 in non-CCAM).

Conclusions

An estimated 8–9 % of prenatally diagnosed patients carry the highest risk of perinatal respiratory distress. Fetal LVR remaining at a high level during the late gestational period seems to predict a high risk.

     

Neurocutaneous diseases – a study of 61 cases

Sixty-one cases of neurocutaneous diseases are analysed within a broad concept. Inborn errors of metabolism affecting the cells of skin and nervous system formed the commonest of the groups (13 cases). Pigmentary disorders formed the commonest of the cutaneous features (13 cases) and mental retardation was the commonest of neurological features (42 cases). Biological analysis revealed that 70.48% of cases had single gene disorders, 8.20% cases had chromosomal disorders and 21.32% the cases were of unknown etiology.