I have been asked this morning on arranging investigations in a prem baby born at 29 weeks:
surfactant protein B, C and ABCA3 deficiencies.
I believe they are querying congenital alveolar proteinosis
Assay finder has an entry for surfactant protein B deficiency (mutation analysis) but the last time I was asked about anything like this we offered TLC of sphingolipids!
As I like to think paediatrics is my field of expertise, I'd be grateful for the experience of the ACB mailbase hive mind in educating me on the usefulness or otherwise of these tests and how we go about prioritising the samples as required. Of course I'll be searching pubmed in the meantime.
Thanks, Fiona
Fiona Ivison FRCPath
Principal Biochemist
Central Manchester University Hospitals NHS Foundation Trust
Oxford Rd
Manchester M13 9WL
0161 701 1728
07806 883960
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