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病例报告:迪尼-德拉斯综合征。

Case report: Denys- Drash syndrome.

作者信息

Ammari A B, Fung D E

机构信息

Child Dental Health Department, Royal Hospital for Sick Children, Glasgow, Scotland.

出版信息

Eur Arch Paediatr Dent. 2007 Dec;8(4):219-23. doi: 10.1007/BF03262601.

DOI:10.1007/BF03262601
PMID:18076855
Abstract

BACKGROUND

Denys-Drash Syndrome (DDS) is an uncommon disorder that appears sporadically and in rare cases may be inherited as an autosomal dominant trait It manifests either at birth or within the first year of life and typically consists of the triad of congenital nephropathy, Wilms tumour and intersex disorder.

CASE REPORT

A 10 year-old Caucasian girl was referred to the Dental Department, at Glasgow Royal Hospital for Sick Children by her Paediatric Nephrologist Consultant. The patient was being teased by her peers over her markedly discoloured teeth. The dental history revealed that the patient was a regular dental attendee from an early age. She was dentally anxious having only experienced dental treatment under general anaesthesia (GA) when she was 4 years old. Apparently her primary dentition also showed a generalised discolouration.

TREATMENT

This consisted of multiple visits for diet analysis and tooth brushing instruction with the use of disclosing tablets. Plaque control significantly improved when using a battery operated toothbrush because of its larger handle which the patient found easier to use and a 0.05% sodium fluoride mouthwash was given for daily use. Dyract(AP) veneers directly bonded onto maxillary permanent incisors and mandibular permanent anterior teeth was carried out. This was an interim measure to improve the patient's appearance while assessing the patient co-operation. The compomer facings were replaced with BelleGlass NG veneers which were cemented onto the maxillary incisors and mandibular anterior teeth using Adhesive By Choice (ABC) system under rubber dam on two separate visits.

FOLLOW-UP: At her last visit, 27 months after treatment, the patient was still satisfied with the restorative treatment. However, further teeth had erupted including all the premolars. BelleGlass NG crowns were indicated. It was also decided to replace the preformed chrome cobalt crowns with full coverage BelleGlass NG crowns.

摘要

背景

迪尼-德拉斯综合征(DDS)是一种罕见的疾病,呈散发性出现,在极少数情况下可能作为常染色体显性性状遗传。它在出生时或出生后第一年内表现出来,通常由先天性肾病、威尔姆斯瘤和两性畸形三联征组成。

病例报告

一名10岁的白种女孩被她的儿科肾病顾问医生转诊至格拉斯哥皇家儿童医院牙科。该患者因其牙齿明显变色而受到同龄人嘲笑。牙科病史显示,患者从小就定期看牙医。她对牙科治疗感到焦虑,因为她4岁时仅在全身麻醉下接受过牙科治疗。显然,她的乳牙也有普遍变色。

治疗

治疗包括多次就诊进行饮食分析和使用示踪片进行刷牙指导。使用电动牙刷时,菌斑控制显著改善,因为其较大的手柄患者觉得更容易使用,并给予0.05%的氟化钠漱口水每日使用。对上颌恒切牙和下颌恒前牙直接粘结Dyract(AP)贴面。这是在评估患者合作情况时改善患者外观的临时措施。复合树脂贴面被BelleGlass NG贴面取代,在两次单独就诊时,在橡皮障下使用“选择粘合剂”(ABC)系统将其粘结在上颌切牙和下颌前牙上。

随访

在治疗27个月后的最后一次就诊时,患者对修复治疗仍感到满意。然而,又有更多牙齿萌出,包括所有前磨牙。需要安装BelleGlass NG冠。还决定将预制的铬钴冠换成全覆盖的BelleGlass NG冠。

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A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X.对由Denys-Drash综合征相关的种系WT1突变R362X引起的表型变异的综述。
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