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Howard Y. Li, MD; Gregory P. Cosgrove, MD; Jeffrey J. Swigris, DO, MS
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University of Colorado Denver Aurora, CO

Correspondence to: Howard Y. Li, MD, University of Colorado Denver, Anschutz Medical Campus, C-272, RC 2, Ninth Floor, 12700 East Nineteenth Ave, Aurora, CO 80045; e-mail: Howard.Li@ucdenver.edu


The authors have reported to the ACCP that no significant conflicts of interest exist with any companies/organizations whose products or services may be discussed in this article.

Reproduction of this article is prohibited without written permission from the American College of Chest Physicians (www.chestjournal.org/site/misc/reprints.xhtml).


© 2009 American College of Chest Physicians


Chest. 2009;135(6):1698. doi:10.1378/chest.09-0403
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To the Editor:

We appreciate the comments of Dr. Kiitisupamongkol on our recent report1 in CHEST (January 2009) on a woman with multiple cysts in the lungs and kidneys that we suspected were due to the TSC2-PKD1 contiguous gene syndrome. As Kiitisupamongkol points out, we inadvertently referred to the abbreviation “ADPKD” as “adult dominant polycystic kidney disease” instead of “autosomal-dominant polycystic kidney disease,” and we apologize for the oversight. Kiitisupamongkol mentions that the absence of a family history of renal cysts should not preclude a diagnosis of ADPKD and, by citing a recent case report,2 implies that our patient's findings might all be due to ADPKD. Although ADPKD is a systemic disease that can involve multiple organs, pulmonary cysts are exceedingly uncommon, to the degree that they are rarely mentioned as an extrarenal manifestation of ADPKD. In an individual with a family history of ADPKD, radiographic evidence of bilateral, fluid-filled renal cysts establishes the diagnosis of ADPKD.3

However, we would argue that the diagnosis of ADPKD cannot be made confidently in the absence of a positive family history when extrarenal findings rarely associated with ADPKD (eg, diffuse pulmonary cysts) and potentially representing a manifestation of another disease (eg, lymphangioleiomyomatosis or tuberous sclerosis complex) are present. Given the apparent extreme rarity of lung cysts in patients with ADPKD, we believe the more likely diagnosis in our patient is the TSC2-PKD1 contiguous gene syndrome. We wonder whether the individual described by Shanmuganathan and colleagues2 in their case report and other patients with kidney and lung cysts might also have TSC2-PKD1 contiguous gene syndrome. In any case, definitive diagnosis requires molecular genetic testing (eg, linkage analysis and/or direct DNA sequence analysis), which was declined by our patient and which was not reported by Shanmuganathan and colleagues.2

Li HY, Cosgrove GP, Swigris JJ. Dyspnea in a 43-year-old woman with polycystic kidney disease. Chest. 2009;135:238-243. [PubMed] [CrossRef]
 
Shanmuganathan A, Rao UK, Chandrasekharan A, et al. Recurrent pneumothorax associated with polycystic kidney disease. Indian J Chest Dis Allied Sci. 2008;50:233-235
 
Grantham JJ. Autosomal dominant polycystic kidney disease. N Engl J Med. 2008;359:1477-1485. [PubMed]
 

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Li HY, Cosgrove GP, Swigris JJ. Dyspnea in a 43-year-old woman with polycystic kidney disease. Chest. 2009;135:238-243. [PubMed] [CrossRef]
 
Shanmuganathan A, Rao UK, Chandrasekharan A, et al. Recurrent pneumothorax associated with polycystic kidney disease. Indian J Chest Dis Allied Sci. 2008;50:233-235
 
Grantham JJ. Autosomal dominant polycystic kidney disease. N Engl J Med. 2008;359:1477-1485. [PubMed]
 
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