C48 COPD: CASE REPORTS I: Alpha 1-Antitrypsin Pi Mz Vs Pi Zz: Ramifications Of A Mistaken Identity

While emphysema occurs irrespective of AAT level and phenotype, AAT deficiency-related liver disease occurs in the context of AAT Pi ZZ but is not known to occur in Pi MZ individuals. [...]post-mortem genetic analysis was done and revealed the patient was homozygous for Z AAT, thus calling into ques...

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Bibliographic Details
Published in:American journal of respiratory and critical care medicine 2017-01, Vol.195
Main Authors: Niehaus, K L, Velasco, N, Rashkin, M, Brantly, M, Hebbeler-Clark, R, Trapnell, B C
Format: Article
Language:English
Subjects:
Abdomen
Chronic obstructive pulmonary disease
Emphysema
Hypertension
Liver diseases
Sepsis
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Summary:While emphysema occurs irrespective of AAT level and phenotype, AAT deficiency-related liver disease occurs in the context of AAT Pi ZZ but is not known to occur in Pi MZ individuals. [...]post-mortem genetic analysis was done and revealed the patient was homozygous for Z AAT, thus calling into question the isoelectric focusing-based phenotyping data. [...]the post-mortem diagnosis was discussed with the patient's family to ensure appropriate education, testing and risk factor modification.
ISSN:1073-449X
1535-4970