Chest
Original ResearchLung InfectionFamilial Clustering of Pulmonary Nontuberculous Mycobacterial Disease
Section snippets
Materials and Methods
As part of an Institutional Review Board-approved natural history study of mycobacterial disease at the NIH family histories for relevant disease characteristics were obtained. From a cohort of approximately 120 patients who met the American Thoracic Society disease criteria without known cystic fibrosis or primary ciliary dyskinesia, six families had at least two members affected with pulmonary NTM.8 A systematic review of the medical records was performed and patients were interviewed to
Results
Sibling pairs were the most commonly affected family members (see Fig 1). However, two mother-child pairs were also identified, and an additional mother (1.I.2) was reported to have had pulmonary NTM disease. Four of the six families were white, and 10 of 13 patients (77%) were women (Table 1). All patients seen at NIH lived in coastal US states, but none of the relative pairs resided in the same household at the time of diagnosis and several lived in different states. The average age of
Discussion
We identified six unrelated families in which pulmonary NTM disease affects at least two first-degree relatives. The patterns of transmission are consistent with dominant (parent-child) and recessive (siblings only) modes of inheritance. The fact that in several families cases were infected with distinct species of NTM suggests that neither common source exposure nor patient-to-patient intrafamily transmission was responsible. Therefore, these patients support the hypothesis that some pulmonary
Acknowledgments
Author contributions: Dr Olivier had full access to the data in this study and takes responsibility for the integrity of the data and accuracy of the analysis.
Dr Colombo: contributed to conducting the record review, contacting the participants to verify and obtain additional information, analyzing the data, creating the table and figures, and drafting the manuscript.
Dr Hill: contributed to reviewing and scoring all the scoliosis films, reviewing and interpreting selected chest CT scans for each
References (0)
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2022, Journal of Clinical Tuberculosis and Other Mycobacterial DiseasesCitation Excerpt :Genome wide-association studies (GWAS) have identified genetic variants associated with susceptibility to idiopathic pulmonary fibrosis (IPF) in people of European ancestry [25]. While the literature regarding the role of ancestry in NTM PD remains scant, NTM PD has been reported among families including a pair of siblings in Japan as well Korean, Caucasian, and Hispanic families in the U.S., suggesting there may be a heritable, genetic contribution to NTM PD [26–27]. While resident Asians in geographic hot spots for NTM like Hawai’i show the highest period prevalence of NTM PD, disease is lowest among Native Hawaiian and other Pacific Islanders [28].
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Funding/Support: This research was supported by the Intramural Research Program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health.
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