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Published online 19 May 2008 |
Nature
| doi:10.1038/news.2008.840
Corrected online: 22 May 2008
News
Health agency puts spotlight on mystery diseases
NIH launches programme to help patients with undiagnosed conditions.
Each time she goes to see a new doctor, Marianne Genetti takes with her a thick folder bulging with notes. The folder contains her medical records, but despite the number of doctors she has seen, nowhere in the sheaf of papers is a diagnosis.
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Hi, Sounds like Cystic fibrosis (also known as CF, mucoviscoidosis, or mucoviscidosis) is a hereditary disease that affects mainly the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure. Regards Dr. Terence Hale
I thought that cystic fibrosis affected the respiratory epithelium rather than the pleura. It would seem unlikely that the medical team would miss such an obvious diagnosis (no disrespect to Dr Hale). It would also be interesting to know the age of onset of symptoms, as CF is generally a childhood disease. However if infectious and environmental (e.g. toxin) exposure are ruled out a chloride channel mutation remains a possibility, perhaps a different subtype or class than the one mutated in CF.
The adipose tissue is no longer a mere energy storage tissue. It has been described an endocrine organ in the recent past. It also interacts with the immune system and also capable of secreting proinflammatory cytokines. Its role in chronic inflammation is also a current area of research. Its worth investigating Genetti's case in this aspect too.