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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Clinico-epidemiologic features of oculocutaneous albinism in northeast section of Cairo – Egypt
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Clinico-epidemiologic features of oculocutaneous albinism in northeast section of Cairo – Egypt

机译：开罗东北部眼皮肤白化病的临床流行病学特征

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Background Oculocutaneous albinism (OCA) is a genetically heterogeneous group of disorders characterized by the absence or reduced pigmentation of the skin, hair and eyes. To assess the clinico-epidemiologic features of different forms of OCA among Egyptian patients, we performed a retrospective study to determine the frequency, types, clinical presentation and associated genomic errors in albino patients and their relatives consulting the Genetics Clinic, Pediatric Hospital, Ain Shams University, Cairo, Egypt. Methods We used the outpatients index files to identify diagnosed cases of albinism referred from the dermatologic and ophthalmologic departments with different genodermatoses over 43year period. We used specifically designed data collection protocol forms to extract epidemiological and clinical data from the patients medical records. These were entered into a computer database and analyzed using standard statistical software. Results The occurrence rate of albinism in our study was 20.4% of genodermatoses patients and 1 per 5843 patients attending the Pediatric hospital. Consanguineous marriage was reported among parents of 66.37% of patients and positive family history was reported in 46.01% of patients. Complete OCA was detected in 48.59% of patients, partial albinism in 41.59% of patients and syndromic albinism was detected in 7.96%. Associated genomic errors were detected in 36.28% of our albino patients and seventy one multiple mutant genomic errors were defined among relatives of thirty seven index families of oculocutaneous albinism patients. Conclusion To the best of our knowledge, this preliminary study is the first report of its kind from Egypt. The high rate of parental consanguinity among the parents of our Egyptian albino patients may account for the frequency of this genodermatosis in Egypt.
机译：背景技术眼皮肤白化病（OCA）是一组遗传异质性疾病，其特征是皮肤，头发和眼睛没有色素沉着或色素沉着减少。为了评估埃及患者中不同形式OCA的临床流行病学特征，我们进行了一项回顾性研究，以确定白化病患者及其亲属的频率，类型，临床表现和相关的基因组错误，咨询Ain Shams儿科医院遗传诊所埃及开罗大学。方法我们使用门诊病人索引文件来确定43年来不同皮肤病和皮肤病科转诊的白化病病例。我们使用了专门设计的数据收集协议表格，从患者病历中提取流行病学和临床数据。将它们输入计算机数据库，并使用标准统计软件进行分析。结果在我们的研究中，白化病的发生率在皮肤病患者中为20.4％，在儿科医院的5843患者中为1。父母中有近亲结婚的占66.37％，家族史阳性的占46.01％。 48.59％的患者检出了完整的OCA，41.59％的患者检出了部分白化病，7.96％的患者发现了综合征性白化病。在我们的白化病患者中检测到36.28％的相关基因组错误，并在眼白化病患者的37个指标家族的亲属中定义了71个多重突变基因组错误。结论据我们所知，这项初步研究是埃及的第一份此类报告。埃及白化病患者的父母中父母亲血缘关系很高，这可能解释了埃及这种皮肤病的发生频率。

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