Nunes Adriana Kleist Clark, Wachholz Regiane Gutjahr, Rover Marina R M, Souza Liliete Canes
Universidade Federal de Santa Catarina, Florianópolis, SC, Brasil.
Arq Bras Endocrinol Metabol. 2013 Jul;57(5):360-7. doi: 10.1590/s0004-27302013000500005.
To evaluate the prevalence of the diseases phenylketonuria (PKU), congenital hypothyroidism (CH), cystic fibrosis (CF), hemoglobinopathies (HB), and congenital adrenal hyperplasia (CAH), in the state of Santa Catarina, in order to delineate the local population profile for these diseases.
A survey of data from the Newborn Screening Program of the Ministry of Health of Santa Catarina, in the period 2004 to 2008 was carried out.
During the study period, the following prevalences were obtained: 1:28,862 children screened for PKU; 1:2,876 children screened for CH; 1:5,121 children screened for CF; 1:14,446 children screened for HB S; and 1:11,655 children screened for CAH.
The prevalence of PKU proved to be lesser than the national prevalence, while CAH prevalence was greater. On the other hand CH prevalence was similar to the global and national prevalence. Moreover, the predominance of the Caucasian population in the state resulted in reduced prevalence of HB S and increased prevalence of CF in relation to the rest of the country.
评估圣卡塔琳娜州苯丙酮尿症（PKU）、先天性甲状腺功能减退症（CH）、囊性纤维化（CF）、血红蛋白病（HB）和先天性肾上腺皮质增生症（CAH）的疾病患病率，以便描绘这些疾病的当地人群概况。
对圣卡塔琳娜州卫生部新生儿筛查项目2004年至2008年期间的数据进行了调查。
在研究期间，获得了以下患病率：苯丙酮尿症筛查儿童为1:28,862；先天性甲状腺功能减退症筛查儿童为1:2,876；囊性纤维化筛查儿童为1:5,121；血红蛋白病S筛查儿童为1:14,446；先天性肾上腺皮质增生症筛查儿童为1:11,655。
事实证明，苯丙酮尿症的患病率低于全国患病率，而先天性肾上腺皮质增生症的患病率则更高。另一方面，先天性甲状腺功能减退症的患病率与全球和全国患病率相似。此外，该州白种人人口占主导地位，导致与该国其他地区相比，血红蛋白病S的患病率降低，囊性纤维化的患病率增加。
