Month: October 2016

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder that shares clinical similarities with BHD. TSC results from germline mutations in the Tsc1 or Tsc2 gene, affecting multiple organs, including the kidney and lung. In the kidney, lesions such as multiple renal cysts and renal cell carcinoma can occur. In the lung, patients can develop multifocal micronodular pneumocyte … Read more

Patients that present with a spontaneous pneumothorax (SP) without a known medical history of lung disease are usually diagnosed as primary spontaneous pneumothorax – a pneumothorax that occurs without underlying diseases. However, underlying diffuse cystic lung diseases such as Birt-Hogg-Dube syndrome (BHD), lymphangioleiomyomatosis (LAM) and pulmonary Langerhans cell histiocytosis (PLCH) may have a spontaneous pneumothorax … Read more

The EMBO conference on Cilia 2016, ‘from fundamental biology to human disease’ was held last week over four days in Amsterdam, The Netherlands. The conference brought together ciliopathy patients, clinicians, and researchers to promote collaboration, create awareness and to discuss the latest developments in research of cilia and ciliopathies. Cilia are microtubule-based organelles that protrude … Read more

As mentioned in last week’s blog, the International Rare Lung Diseases Research Conference (RLDC) was held in Cincinnati, USA, 22nd-25th September. Clinicians, scientists, patient organizations, patients and families were brought together to discuss research and clinical trials in rare lung disease and to promote dialogue between the research community and patients. It is increasingly clear that … Read more