Links: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1320177/ - The Relevance of Sweat Testing for the Diagnosis of Cystic Fibrosis in the Genomic Era
http://www.clsi.org/source/orders/free/c34-a3.pdf - approved guidelines for sweat chloride evaluation
Autosomal Recessive
Incidence: 1: 3200
Increased concentration of Sodium, Chloride and Potassium in their sweat
Diagnosis: Increased Sweat Chloride x 2 by pilocarpine iontotphoresis OR 2 CF mutations OR nasal epithelial ion transport
Sweat Chloride of more than 50mmol/litre or above need further evaluation
About 70% of mutations observed in CF patients result from deletion of three base pairs in CFTR's nucleotide sequence.
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