Disorders of the Pleura |

Alpha-1 Antitrypsin Levels and Genotypes in Children With Primary Spontaneous Pneumothorax FREE TO VIEW

Tiong The, MBBS
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St. Peter's University Hospital, New Brunswick, NJ

Chest. 2014;145(3_MeetingAbstracts):285A. doi:10.1378/chest.1888251
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SESSION TITLE: Pleural Disease/Pneumothorax Posters

SESSION TYPE: Poster Presentations

PRESENTED ON: Saturday, March 22, 2014 at 01:15 PM - 02:15 PM

PURPOSE: A recent series of case reports in children links Primary Spontaneous Pneumothorax (PSP) to alpha-1-antitrypsin (AAT) deficiency. However, epidemiological evidence of this link is lacking. We investigated our series of PSP to see if they have AAT deficiency.

METHODS: Twenty-seven patients with PSP were identified from the admission registry of the Pediatric Intensive Care Units of two hospitals. Those that consented to the study were subjected to a standardized questionnaire and have their Alpha-1-Antitrypsin level and genotype determined by the AlphaKit.

RESULTS: Eleven patients, between the ages of 14 - 17 with a mean age of 16, participated in the study. They were all tall and thin and were in their last stage of their growth spurt. All the PSP patients had an AAT level that was above the critical 80 mg/dL. All have the normal MM genotype except for one 16 years old male with the intermediate deficient MZ genotype; his AAT level was 124 mg/dL (normal 111- 340 mg/dL). Of interest, his father, who is of Norwegian - Italian descent and the most likely the source of the Z gene, also had PSP when he was of similar age. If non-Caucasians are excluded, the prevalence of the MZ genotype, in this study, is one in six (1:6) of adolescent Caucasians with PSP.

CONCLUSIONS: This study raises the possibility that: 1. Adolescents with PSP may have the intermediate AAT deficiency genotype (MZ), despite an AAT level that is above the critical 80 mg/dL level. This study is consistent with a previous case report on a 43-year-old man with PSP and MZ genotype. 2. Previous studies in adults showing no association between PSP and AAT deficiency were limited by their reliance upon AAT level to make the diagnosis of AAT deficiency.

CLINICAL IMPLICATIONS: Patients with PSP should be tested for the AAT genotype.

DISCLOSURE: The following authors have nothing to disclose: Tiong The

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