Actually we were successlessly treating a 17 year old Girl with makrolides and steroids and slowed down Progression of the disease with pirfenidone. I'd love to see that Patient here in Frankfurt. Please refer to http://starkelunge.de/about/?lang=en or https://de-de.facebook.com/people/Martin-Rosewich/100008991096147

Dear Martin, 

many thanks for the answer!

I will send you more details in the next 2 weeks. 

Best regards

Laura Gironi

dear laura, unfortunatelly we have only knowledge in adult dc. we have two patients (siblings) with late onset of dc with endstage lung fibrosis as first manifestation and myelodysplastic syndrome furthermore in the male case. both were around 40 years. unfortunatelly the brother died, but the sister underwent by dramatically deterioration of PFT and pulmonary failure within a few months high-urgently a lung transplantation one year ago.  actually she is quite stable.

do you know the chromosomal abberation in your patient?

Dear kathleen, 

now I have no information about the patient's genotype . the diagnosis was made on the basis of a lung biopsy . I hope to collect all the information as soon as possible to be able to refer the patient to the prior therapeutic management  ( at the moment the main problem I think is the respiratory situation )

Thanks for the reply

best regards 

Laura Gironi