PMID- 22111466 OWN - NLM STAT- MEDLINE DCOM- 20120103 LR - 20111124 IS - 0004-4849 (Print) IS - 0004-4849 (Linking) VI - 103 IP - 2 DP - 2011 Apr-Jun TI - Testing 300 patients for alpha-1 antitrypsin deficiency in Caguas, Puerto Rico. PG - 23-4 AB - Alpha-1 Antitrypsin Deficiency (AATD) is an inherited disorder that can cause lung and liver disease in adults and children. Homozygosity for the Z phenotype is the principal cause of AATD. There are about 100,000 people with AATD in the United States (not including the Island of Puerto Rico), and about the same number in Europe. Despite being one of the most common potentially lethal genetic diseases among Caucasian adults, AATD often remains unidentified, in part because related pulmonary symptoms often do not manifest until midlife when significant pulmonary functional degradation has already occurred. Our study aims to determine what is the prevalence of AATD in a specific population in Puerto Rico. FAU - Correa, Ramonita AU - Correa R AD - Department of Anatomy, San Juan Bautista School of Medicine, Caguas, Puerto Rico. rcorrea@sanjuanbautista.edu FAU - Perez, Jorge AU - Perez J FAU - Brugal, Yocasta AU - Brugal Y FAU - Terrasa, Jose AU - Terrasa J FAU - Perez Guma, Jose AU - Perez Guma J FAU - Santana, Arnulfo AU - Santana A FAU - Colon, Edwin AU - Colon E FAU - Puig, Gisela AU - Puig G LA - eng PT - Journal Article PT - Randomized Controlled Trial PL - Puerto Rico TA - Bol Asoc Med P R JT - Boletin de la Asociacion Medica de Puerto Rico JID - 7505267 RN - 0 (Reagent Kits, Diagnostic) RN - 0 (alpha 1-Antitrypsin) SB - IM MH - Adult MH - Alleles MH - Female MH - Genotype MH - Humans MH - Male MH - Prevalence MH - Puerto Rico/epidemiology MH - Reagent Kits, Diagnostic MH - Urban Population MH - alpha 1-Antitrypsin/*blood/genetics MH - alpha 1-Antitrypsin Deficiency/*epidemiology EDAT- 2011/11/25 06:00 MHDA- 2012/01/04 06:00 CRDT- 2011/11/25 06:00 PHST- 2011/11/25 06:00 [entrez] PHST- 2011/11/25 06:00 [pubmed] PHST- 2012/01/04 06:00 [medline] PST - ppublish SO - Bol Asoc Med P R. 2011 Apr-Jun;103(2):23-4.