Challenging Identification of a Novel PiISF and the Rare PiMmaltonZ α1-Antitrypsin Deficiency Variants in Two Patients

α1-Antitrypsin (AAT) deficiency is associated with an increased risk for lung and liver disease. Identification of AAT deficiency as the underlying cause of these diseases is important in correct patient management. AAT deficiency is commonly diagnosed by demonstrating low concentrations of AAT foll...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	American journal of clinical pathology Jg. 141; H. 5; S. 742 - 746
Hauptverfasser:	Suh-Lailam, Brenda B., Procter, Melinda, Krautscheid, Patti, Haas, Jason, Kumar, Shiva, Mao, Rong, Grenache, David G.
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	England 01.05.2014
Schlagworte:	Adult Algorithms alpha 1-Antitrypsin - genetics alpha 1-Antitrypsin Deficiency - diagnosis alpha 1-Antitrypsin Deficiency - genetics Female Genotype Humans Male Middle Aged Phenotype Pulmonary Disease, Chronic Obstructive - diagnosis Pulmonary Disease, Chronic Obstructive - genetics Risk α1-Antitrypsin deficiency Mmalton Genotype Phenotype AAT
ISSN:	0002-9173, 1943-7722, 1943-7722
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	α1-Antitrypsin (AAT) deficiency is associated with an increased risk for lung and liver disease. Identification of AAT deficiency as the underlying cause of these diseases is important in correct patient management. AAT deficiency is commonly diagnosed by demonstrating low concentrations of AAT followed by genotype and/or phenotype testing. However, this algorithm may miss novel AAT phenotypes. We report two cases of AAT deficiency in two patients: a case of the novel phenotype PiISF, misclassified as PiII by phenotyping, and a case of the rare phenotype PiMmaltonZ misclassified as PiM2Z. These cases highlight the importance of understanding the limitations of a commonly used diagnostic algorithm, use of further gene sequencing in applicable cases, and the potential for underdiagnosis of AAT deficiency in patients with chronic obstructive pulmonary disease.
Bibliographie:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0002-9173 1943-7722 1943-7722
DOI:	10.1309/AJCPR7EIQS8PIMLV