Abstract
Background: Nontuberculous mycobacteria (NTM) are environmental organisms associated with pulmonary disease without person-to-person transmission. Although genetic causes of disseminated NTM infection are well characterized, genetic causes for most human susceptibility to pulmonary NTM infection have not been determined. Methods: Family histories for relevant disease characteristics were obtained as part of an ongoing natural history study. Six families were identified in which at least two blood relatives had pulmonary NTM. A systematic review of medical records extracted data relevant to pulmonary infection and baseline demographics. Data were reconfirmed by telephone interviews. Results: Familial clustering of pulmonary NTM was proven in six families. Four of the families were white, and the majority of affected individuals were women. The average age at diagnosis was 56.4 ± 10.7 years, the average height was 167.5 ± 8.7 cm, and the mean BMI was 22.0 ± 2.98 kg/m2. Scoliosis was present in 31%. Five of 12 patients had cystic fibrosis transmembrane conductance regulator gene variations, but none had classic cystic fibrosis. Infections were caused by both slow and rapid growing mycobacteria, including Mycobacterium avium, Mycobacterium intracellulare, Mycobacterium kansasii, Mycobacterium abscessus, and Mycobacterium massiliense. Family members were typically infected with different species of NTM. Conclusion: We identified six familial clusters of pulmonary NTM infection, suggesting that there are genetic factors contributing to host susceptibility to pulmonary infection with NTM among some individuals with nodular bronchiectatic disease.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 629-634 |
| Number of pages | 6 |
| Journal | Chest |
| Volume | 137 |
| Issue number | 3 |
| DOIs | |
| State | Published - Mar 1 2010 |
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ASJC Scopus subject areas
- Pulmonary and Respiratory Medicine
- Critical Care and Intensive Care Medicine
- Cardiology and Cardiovascular Medicine
Cite this
Familial clustering of pulmonary nontuberculous mycobacterial disease. / Colombo, Rhonda Elizabeth; Hill, Suvimol C.; Claypool, Reginald J.; Holland, Steven M.; Olivier, Kenneth N.
In: Chest, Vol. 137, No. 3, 01.03.2010, p. 629-634.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Familial clustering of pulmonary nontuberculous mycobacterial disease
AU - Colombo, Rhonda Elizabeth
AU - Hill, Suvimol C.
AU - Claypool, Reginald J.
AU - Holland, Steven M.
AU - Olivier, Kenneth N.
PY - 2010/3/1
Y1 - 2010/3/1
N2 - Background: Nontuberculous mycobacteria (NTM) are environmental organisms associated with pulmonary disease without person-to-person transmission. Although genetic causes of disseminated NTM infection are well characterized, genetic causes for most human susceptibility to pulmonary NTM infection have not been determined. Methods: Family histories for relevant disease characteristics were obtained as part of an ongoing natural history study. Six families were identified in which at least two blood relatives had pulmonary NTM. A systematic review of medical records extracted data relevant to pulmonary infection and baseline demographics. Data were reconfirmed by telephone interviews. Results: Familial clustering of pulmonary NTM was proven in six families. Four of the families were white, and the majority of affected individuals were women. The average age at diagnosis was 56.4 ± 10.7 years, the average height was 167.5 ± 8.7 cm, and the mean BMI was 22.0 ± 2.98 kg/m2. Scoliosis was present in 31%. Five of 12 patients had cystic fibrosis transmembrane conductance regulator gene variations, but none had classic cystic fibrosis. Infections were caused by both slow and rapid growing mycobacteria, including Mycobacterium avium, Mycobacterium intracellulare, Mycobacterium kansasii, Mycobacterium abscessus, and Mycobacterium massiliense. Family members were typically infected with different species of NTM. Conclusion: We identified six familial clusters of pulmonary NTM infection, suggesting that there are genetic factors contributing to host susceptibility to pulmonary infection with NTM among some individuals with nodular bronchiectatic disease.
AB - Background: Nontuberculous mycobacteria (NTM) are environmental organisms associated with pulmonary disease without person-to-person transmission. Although genetic causes of disseminated NTM infection are well characterized, genetic causes for most human susceptibility to pulmonary NTM infection have not been determined. Methods: Family histories for relevant disease characteristics were obtained as part of an ongoing natural history study. Six families were identified in which at least two blood relatives had pulmonary NTM. A systematic review of medical records extracted data relevant to pulmonary infection and baseline demographics. Data were reconfirmed by telephone interviews. Results: Familial clustering of pulmonary NTM was proven in six families. Four of the families were white, and the majority of affected individuals were women. The average age at diagnosis was 56.4 ± 10.7 years, the average height was 167.5 ± 8.7 cm, and the mean BMI was 22.0 ± 2.98 kg/m2. Scoliosis was present in 31%. Five of 12 patients had cystic fibrosis transmembrane conductance regulator gene variations, but none had classic cystic fibrosis. Infections were caused by both slow and rapid growing mycobacteria, including Mycobacterium avium, Mycobacterium intracellulare, Mycobacterium kansasii, Mycobacterium abscessus, and Mycobacterium massiliense. Family members were typically infected with different species of NTM. Conclusion: We identified six familial clusters of pulmonary NTM infection, suggesting that there are genetic factors contributing to host susceptibility to pulmonary infection with NTM among some individuals with nodular bronchiectatic disease.
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U2 - 10.1378/chest.09-1173
DO - 10.1378/chest.09-1173
M3 - Article
VL - 137
SP - 629
EP - 634
JO - Chest
JF - Chest
SN - 0012-3692
IS - 3
ER -