CTD Principal Investigator Dr. Orna Staretz-Chatham and co-authors publish manuscript on pulmonary involvement in NPC1 disease Sep 23, 2018, 8:00 PM EDT

Authors conclude that pulmonary involvement in NPC1 disease is likely under reported and under appreciated by treating physicians. Dr. Staretz-Chatham was invited to present her work at the 9th Interactive Workshop of the NPUK advocacy organization on September 21, Wyboston, UK. Her presentation was met with enormous enthusiasm from scientists and health professionals in attendance. For more information, please contact Dr. Staretz-Chatham at [e-mail].

Pulmonary involvement in Niemann-Pick C type 1
Orna Staretz-Chacham, M. Aviram, I. Morag, A. Goldbart, E. Hershkovitz

Abstract
Niemann-Pick disease type C (NPC) is a lysosomal storage disorder caused by mutations in either NPC-1 or NPC-2 genes, resulting in abnormal intracellular cholesterol trafficking. The estimated prevalence of NPC disease is 1: 120,000-150,000. Lung involvement has been described in only few patients with NPC, mostly NPC2. We describe a series of 12 patients, originating from six families all homozygotes to the p.R404Q (c.1211G > A) mutation of NPC1 gene; nine of them had significant pulmonary manifestations. All patients were followed in our medical center. Nine of the patients had pulmonary involvement, with recurrent pneumonia as the first manifestation in most, followed by recurrent wheezing episodes and subsequent development of interstitial lung disease with chronic need for oxygen support. Seven patients were reported of having interstitial disease by various imaging modalities.
Conclusion: Pulmonary involvement in NPC1 is more common than previously reported. It is characterized as primary obstructive and restrictive lung disease and not only as part of neurologic sequel of NPC. It can lead to respiratory insufficiency and death from respiratory failure.