突尼斯黏多糖贮积症的发病率。

Incidence of mucopolysaccharidoses in Tunisia.

作者信息

Ben Turkia Hadhami, Tebib Néji, Azzouz Hatem, Abdelmoula Mohamed S, Ben Chehida Amal, Chemli Jalel, Monastiri Kamel, Chaabouni Malak, Sanhagi Haifa, Zouari Béchir, Kaabachi Naziha, Ben Dridi Marie F

机构信息

Paediatric Department, La Rabta Hospital, Tunis

出版信息

Tunis Med. 2009 Nov;87(11):782-5.

PMID:20209839

Abstract

BACKGROUND

The mucopolysaccharidoses (MPS) are a devastating heterogenous group of lysosomal storage disorders.

AIM

To evaluate the epidemiological profile of MPS in Tunisia.

METHODS

we conducted a retrospective epidemiological survey covering the period 1970-2005. Multiple sources were used to identify affected patients.

RESULTS

Ninety six confirmed MPS cases were collected from 132 suspected cases found in the surveyed data. Of the ninety six confirmed cases, 20% were from multiplex families. Consanguinity was found in 83% of the families. The crude rate for all types of mucopolysaccharidoses was 2.3 cases in 100,000 live births. The prevalence of MPS type I, III and IV, those most frequently occurring in the collected data, were estimated at 0.63, 0.7 and 0.45 per 100,000 live births, respectively. The cumulative incidence of MPS type VI (0.3 per 105 live births) was higher than reported in European countries; but, it is likely that...

CONCLUSION

The reported frequency of all types of MPS in Tunisia is underestimated.

摘要

背景

黏多糖贮积症（MPS）是一组严重的溶酶体贮积症，具有异质性。

目的

评估突尼斯黏多糖贮积症的流行病学特征。

方法

我们开展了一项回顾性流行病学调查，涵盖1970年至2005年期间。使用了多种来源来确定受影响的患者。

结果

在调查数据中发现的132例疑似病例中，收集到96例确诊的黏多糖贮积症病例。在这96例确诊病例中，20%来自复合家庭。83%的家庭存在近亲结婚情况。所有类型黏多糖贮积症的粗发病率为每10万活产2.3例。在收集的数据中最常出现的I型、III型和IV型黏多糖贮积症的患病率估计分别为每10万活产0.63例、0.7例和0.45例。VI型黏多糖贮积症的累积发病率（每10.5万活产0.3例）高于欧洲国家报告的发病率；但是，很可能……