Genetic error linked to rare disease that causes chronic respiratory infections
Scanning the DNA of two people with a rare disease has led scientists to identify the precise genetic error responsible for their disorder, which causes persistent lung, sinus and ear infections, male infertility, and sometimes a reversed orientation of major organs in the body. The defect affects hair-like structures called cilia that extend from many cells in the body.
Newborns with respiratory distress potentially have rare genetic disease
Newborns with respiratory distress should be evaluated for primary ciliary dyskinesia, a rare genetic disease that has features similar to cystic fibrosis, says Thomas Ferkol from the School of Medicine. He reports finding that about 80 percent of patients with primary ciliary dyskinesia (PCD) have a history of newborn respiratory distress.
Newborns with respiratory distress potentially have rare genetic disease
Newborns with respiratory distress should be evaluated for primary ciliary dyskinesia, a rare genetic disease that has features similar to cystic fibrosis, says Thomas Ferkol from Washington University School of Medicine in St. Louis. He reports finding that about 80 percent of patients with primary ciliary dyskinesia (PCD) have a history of newborn respiratory distress.