Como se descobre a Fibrose Cística?
Como se descobre a Fibrose Cística?
O Teste do Pezinho é a primeira triagem de Fibrose Cística na infância. Quando positivo, deve ser repetido e confirmado pelo Teste Genético ou pelo Teste do Suor. Quando o nível de cloro é superior a 60 milimoles por litro em duas dosagens, associado a um quadro clínico característico, o diagnóstico é firmado.
Como surgiu a Fibrose Cística?
Cientistas descobriram a origem da fibrose cística (FC), doença genética comum entre caucasianos. A enfermidade começou em um grupo de europeus que viveram cerca de 5 mil anos atrás, aponta uma pesquisa publicada no periódico European Journal of Human Genetics.
Qual exame para detectar fibrose cística?
A Fibrose Cística pode ser identificada através do teste do pezinho e seu diagnóstico pode ser confirmado através do teste do suor ou ainda através de exames genéticos.
What ethnicity is cystic fibrosis?
Cystic fibrosis (CF) is the most common inherited condition in Caucasians. CF occurs in 1/2,500 Caucasian children and less frequently in other ethnic groups. In most cases, there is no family history of CF.
What is the genetic cause of cystic fibrosis?
The cause of cystic fibrosis (CF) is a defect in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene makes a protein that controls the movement of salt and water in and out of the cells in your body.
What is the incidence of cystic fibrosis?
CF in the U.S. The U.S. is among countries with the highest incidence of CF, with about 30,000 people currently living with the disease. Around 1 in 2,500 to 3,500 Caucasian babies are diagnosed with CF in the U.S. This ratio is much lower among African Americans at 1 in 17,000 births, and even lower for Asian Americans at 1 in 31,000.
What is the frequency of cystic fibrosis?
Cystic fibrosis occurs in about one in every 3,500 white births, one in every 17,000 black births, and one in every 90,000 Asian births. About 12 million people (about one in 30 people) in the United States carry one cystic fibrosis gene mutation.
