Mystery death of young child from rare illness solved by researchers
St. Louis (Missouri) [US], February 13 : A recent research by Washington University School of Medicine in St. Louis has solved the medical mystery of a 2-year-old child, who was seemingly healthy at birth, succumbing to an undiagnosed, rare illness.
The research team identified a previously unknown genetic cause of interstitial lung disease, providing answers to the parents and doctors puzzled by the child's condition. The study was published in the 'Proceedings of the National Academy of Sciences'.
The research, conducted as part of the National Institutes of Health's (NIH) Undiagnosed Diseases Network, demonstrated, among other benefits, how an interdisciplinary team of researchers can work together to solve medical mysteries, helping patients understand a diagnosis, prognosis and what a genetic abnormality may mean for family members and family planning.
The Undiagnosed Diseases Network is a national research network aimed at diagnosing rare and previously undescribed diseases in patients whose conditions present as medical mysteries. Washington University serves as a clinical site that evaluates patients, and a model organism screening site that develops models to study genes in zebrafish and roundworms.
Interstitial lung disease is a broad term for a disease in which the lungs gradually deteriorate, causing scarring that makes it increasingly difficult to breathe. Several gene abnormalities have been associated with interstitial lung disease in infants and children, but some patients have the disease despite harbouring none of the known genetic abnormalities. In the new study, the researchers were presented with the case of a young child with interstitial lung disease of unknown cause. The child later died of the disease.
The researchers analyzed the child's DNA code as well as the DNA code of both parents. A team of bioinformatics specialists at Baylor College of Medicine then narrowed down the initial long list of DNA code changes or genetic variants they identified -- many of which are harmless -- to a smaller list of possible culprits. The lung tissue from the child had evidence of a problem with surfactant in the lungs.
In the lungs' air sacs, surfactant is a complex mixture of proteins and lipids that reduces surface tension in the air sacs and keeps them open, easing the exchange of oxygen and carbon dioxide during breathing. Many people with interstitial lung disease have abnormalities in the surfactant protein genes. But this child did not have any genetic variants in the code of the surfactant protein genes.
( Details and picture courtesy ANI, the content is auto-generated from feed.)
Please follow us on Telegram for all the latest updates.
