巴西北部里奥格兰德杜尔州贝拉尔迪内利-塞普先天性脂肪营养不良的高患病率。
High prevalence of Berardinelli-Seip Congenital Lipodystrophy in Rio Grande do Norte State, Northeast Brazil.
作者信息
de Azevedo Medeiros Lázaro Batista, Cândido Dantas Verônica Kristina, Craveiro Sarmento Aquiles Sales, Agnez-Lima Lucymara Fassarella, Meireles Adriana Lúcia, Xavier Nobre Thaiza Teixeira, de Lima Josivan Gomes, de Melo Campos Julliane Tamara Araújo
机构信息
Faculdade de Ciências da Saúde do Trairi, Universidade Federal do Rio Grande do Norte, Santa Cruz, RN Brazil.
Laboratório de Biologia Molecular e Genômica, Departamento de Biologia Celular e Genética, Centro de Biociências, Universidade Federal do Rio Grande do Norte, Natal, RN Brazil.
出版信息
Diabetol Metab Syndr. 2017 Oct 13;9:80. doi: 10.1186/s13098-017-0280-7. eCollection 2017.
BACKGROUND
Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare disease characterized by the almost complete absence of adipose tissue. Although a large number of BSCL cases was previously identified in Rio Grande do Norte (RN), a state in Northeast Brazil, its prevalence in RN regions and municipalities remains unknown. The purpose of this study was to better characterize the prevalence of BSCL in RN.
METHODS
A descriptive study was conducted using secondary data obtained from the Association of Parents and People with BSCL of RN to determine its prevalence. The patients' socio-demographic characteristics and geolocalization were analyzed.
RESULTS
We estimated a total of 103 BSCL cases in RN, resulting in a prevalence of 3.23 per 100,000 people. The Central Potiguar mesoregion, Seridó territory, Carnaúba dos Dantas and Timbaúba dos Batistas municipalities had a much higher prevalence of BSCL, with 20.56, 20.66, 498.05 and 217.85 per 100,000 people, respectively.
CONCLUSIONS
Together, our results showed that BSCL is highly prevalent in RN and confirmed that our state has one of the highest prevalences of this lipodystrophy worldwide. More studies are still needed to better estimate the prevalence and incidence of BSCL in RN as well as in other states in Brazil. Study Number 31809314.0.0000.5568.
背景
贝拉尔迪内利-塞普先天性脂肪营养不良（BSCL）是一种罕见疾病，其特征是几乎完全缺乏脂肪组织。尽管此前在巴西北部的北里奥格兰德州（RN）发现了大量BSCL病例，但其在RN地区和市的患病率仍不清楚。本研究的目的是更好地描述RN地区BSCL的患病率。
方法
采用描述性研究，使用从RN地区BSCL患者家长及患者协会获得的二手数据来确定其患病率。分析了患者的社会人口学特征和地理定位。
结果
我们估计RN地区共有103例BSCL病例，患病率为每10万人3.23例。中波蒂瓜尔中地区、塞里多地区、卡瑙巴-多斯丹塔斯市和廷巴乌巴-多斯巴蒂斯塔斯市的BSCL患病率要高得多，分别为每10万人20.56例、20.66例、498.05例和217.85例。
结论
我们的结果共同表明，BSCL在RN地区高度流行，并证实我们州是全球这种脂肪营养不良患病率最高的地区之一。仍需要更多研究来更好地估计RN地区以及巴西其他州BSCL的患病率和发病率。研究编号31809314.0.0000.5568。
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