Notes+on+Cystic+Fibrosis+Clinical+manifestations+and+diagnosis+2-3-13

Notes on Cystic Fibrosis Clinical manifestations and diagnosis

>60 mmol/L sodium chloride

?def of pathognomonic?

q by 2007 30 percent were diagnosed by newborn screening

CFTR-related diseases

?def of meconium ileus?

q at least 50 mg of sweat must be collected within a 45-minute period for the test to be valid ^huh seems like a lot of sweat

q Most diagnostic laboratories in the United States screen for at least 23 of the most common mutations,

q Linkage analysis can be performed

?what exactly is linkage analysis?

q The Cystic Fibrosis Mutation Data Base lists more than 1300 different mutations in the CFTR gene with potential to cause disease

nasal potential difference measurements are usually not taken for infants

q Most infants with CF have elevated blood levels of immunoreactive trypsin (IRT), which can be quantified by radioimmunoassay or by an enzyme–linked immunoassay