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Alpha-1-antitrypsin deficiency associated with the Mattawa variant
Beatriz Lara1, Beatriz Martínez-Delgado, Maria Luisa Torres
1Servicio de Neumología, Hospital Universitario Arnau de Vilanova, Lleida, España.
Archivos De Bronconeumologia
|November 5, 2013
Summary
This case report highlights rare alpha-1-antitrypsin deficiency (AATD) alleles in Spain. Molecular analysis confirmed AATD in two patients initially misdiagnosed by isoelectric focusing.
Area of Science:
- Genetics
- Pulmonology
- Clinical Diagnostics
Background:
- Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder often caused by Pi*S alleles.
- Rare deficiency alleles exist but are challenging to detect using standard methods like isoelectric focusing (IEF).
Observation:
- Two Spanish AATD cases presented with a null Mattawa allele and a rare Mmalton allele.
- Initial diagnosis via IEF was Pi*MM, inconsistent with low serum AAT levels.
Findings:
- Molecular genetic analysis identified the rare null Mattawa and Mmalton alleles as the cause of AATD.
- IEF failed to detect these specific rare deficiency alleles.
Implications:
- Inconsistencies between serum AAT levels and phenotype warrant investigation for rare AATD alleles.
- Molecular testing is crucial for accurate diagnosis of AATD involving rare genetic variants.
- This study expands the understanding of AATD genetic diversity in Spain.
Keywords:
Alpha-1-antitrypsin deficiencyDéficit de alfa-1-antitripsinaMattawaRegistro Español de pacientes con déficit de alfa-1-antitripsinaSpanish Registry of patients with alpha-1-antitrypsin deficiencyMore Related Videos
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