Congenital nasolacrimal duct obstruction

  • 文章类型: Case Reports
    肩关节-指甲-泪腺(ADULT)综合征是一种罕见的常染色体显性遗传性疾病,由于TP63基因突变而引起。更常见的是,TP63基因的突变导致外胚层发育不良和/或口面部裂。成人综合征是一种外胚层相关的组织发育不良。这个病例报告描述了一个慢性流泪的病人,先天性闭锁,和泪管阻塞,是成人综合征的主要临床表现。该患者还表现出一些不同于成人综合征的临床表现,即,轻度的眼睑融合和第五指的异常发育(僵硬的第五指,弯曲的长度缩短)。该患者的基因突变也与文献中通常报道的位点不同。在这个病人身上,c.518G>T导致p.G173V(登录号:NM_003722;外显子4)。我们成功地进行了泪囊鼻腔吻合术和人工泪道植入术。如上所示,我们详细讨论了该疾病的临床特征和遗传学。在分享这个案例时,我们旨在有助于目前对ADULT综合征的基因和临床表现的了解,并协助临床医师临床诊断TP63突变相关疾病.
    Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare autosomal dominant inherited disease caused due to mutations in the TP63 gene. More commonly, mutations in the TP63 gene result in ectodermal dysplasia and/or orofacial cleft. ADULT syndrome is a type of ectoderm-related tissue dysplasia. This case report describes a patient with chronic tearing, congenital atresia, and obstruction of the lacrimal ducts, which are the main clinical manifestations of ADULT syndrome. This patient also presented with some clinical manifestations that were different from those of ADULT syndrome, namely, mild eyelid fusion and abnormal development of the fifth finger (a stiff fifth finger with camptodactyly that was shortened in length). The gene mutation in this patient was also at a site different from those usually reported in the literature. In this patient, c.518G > T resulted in p. G173V (accession number: NM_003722; exon4). We performed successful dacryocystorhinostomy and artificial lacrimal duct implantation. As shown above, we discussed the clinical characteristics and genetics of the disease in detail. In sharing this case, we aim to contribute to the current understanding of the genes and clinical manifestations of ADULT syndrome and to assist clinicians in the clinical diagnosis of TP63 mutation-related diseases.
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  • 文章类型: Journal Article
    先天性鼻泪管阻塞(CNLDO)是引起婴幼儿溢泪的主要原因之一,抗生素通常在第一年用作保守治疗。然而,对这组患者中阻塞的泪道引流系统的细菌学知之甚少。这项研究的目的是评估中国CNLDO儿童第一年的泪囊(LS)微生物学特征。
    纳入了2017年5月1日至2018年8月31日在三级保健儿童医院接受CNLDO治疗的患者。这项研究招募了1岁以下接受泪道探查的婴儿,并收集来自LS的回流排出物。培养样品并对阳性培养物进行药敏试验。
    纳入32例CNLDO患者。男女比例为23:9。平均年龄为6.7±2.4(1.7-12)个月。在87.5%的样本中鉴定出阳性培养物,并提供了38株细菌。在10名(31.3%)儿童中发现混合感染。革兰阳性菌占全部菌株的60.5%,链球菌(50%)是最常见的物种,而嗜血杆菌(21.1%)和奈瑟菌(13.2%)是革兰氏阴性菌最常见的分离株。在2名通过常规探查缓解症状的婴儿中检测到耐甲氧西林金黄色葡萄球菌(MRSA)。在6个月以下的患者与其他患者之间未检测到细菌学模式的差异。病原菌对氯霉素(88%)和左氧氟沙星(84%)高度敏感,但对红霉素(40%)和磺胺甲恶唑(32%)耐药。
    1岁以下的CNLDO婴儿表现为革兰氏阳性链球菌,和嗜血杆菌作为革兰氏阴性菌。左氧氟沙星是一种有效的局部抗生素,几乎没有耐药的机会,尤其是对于中国儿童。这些发现可以帮助临床医生选择CNLDO的最佳药物作为保守治疗。
    Congenital nasolacrimal duct obstruction (CNLDO) is one of the main causes of epiphora in infants, and antibiotics are usually used as a conservative therapy in the first year. Yet, little is known about the bacteriology of the occluded lacrimal drainage system in this group of patients. The aim of this study was to evaluate the microbiology of lacrimal sac (LS) in Chinese children with CNLDO in their first year of life.
    Patients with CNLDO between May 1, 2017 and August 31, 2018 at a tertiary care children\'s hospital were enrolled. The study recruited infants who received lacrimal probing under 1 year old, and refluxed discharge from LS was collected. Samples were cultured and susceptibility test was performed for positive culture.
    Thirty-two patients with CNLDO were included. The ratio of male to female was 23:9. The mean age was 6.7 ± 2.4 (1.7-12) months. Positive cultures was identified in 87.5% of the sample, and presented 38 strains of bacteria. Mixed infection was identified in 10 (31.3%) children. Gram-positive bacteria accounted for 60.5% of all the strains, with Streptococcus (50%) being the most frequent species, whereas Haemophilus (21.1%) and Neisseriae (13.2%) were most common isolates for Gram-negative organisms. Methicillin-resistant Staphylococcus aureus (MRSA) was detected in 2 infants whose symptoms resolved by a routine probing. No difference of bacteriology pattern was detected between patients under 6 months old and those beyond. The pathogens were highly sensitive to chloramphenicol (88%) and levofloxacin (84%), but resistant to erythromycin (40%) and sulfamethoxazole (32%).
    Infants with CNLDO under 1 year of age presented predominance of Streptococcus as Gram-positive organism, and Haemophilus as Gram-negative organism. Levofloxacin was an active topical antibiotic agent with few chance of resistance especially for Chinese children. These findings could help clinicians choose optimal medicine for CNLDO as the conservative treatments.
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