Can I read α1-Antitrypsin mutations in NAFLD: High prevalence and association with altered iron metabolism but not with liver damage on EtoBox?

α1-Antitrypsin mutations in NAFLD: High prevalence and association with altered iron metabolism but not with liver damage by Luca Valenti; Paola Dongiovanni; Alberto Piperno; Anna Ludovica Fracanzani; Marco Maggioni; Raffaela Rametta; Paola Loria; Maria Antonietta Casiraghi; Elda Suigo; Roberto Ceriani; Erica Remondini; Paola Trombini; Silvia Fargion is a Medicine article available to read on EtoBox.

What is α1-Antitrypsin mutations in NAFLD: High prevalence and association with altered iron metabolism but not with liver damage about?

Hyperferritinemia, a common feature of nonalcoholic fatty liver disease (NAFLD), has been associated with steatohepatitis and fibrosis. Heterozygosity for ␣1-antitrypsin (AAT) mutations is a cofactor of liver damage, and AAT influences inflammation and iron metabolism. This study evaluated the prevalence of the common AAT PiS/PiZ mutants in 353 patients with NAFLD, 195 of whom had hyperferritinemia, versus 114 matched controls and their influence on iron metabolism and the severity of liver damage in the 212 patients submitted to biopsy. PiS and PiZ alleles were searched for by restriction analysis. Thirty-eight patients (10.8%) carried non-MM genotypes versus 4/114 (3.5%) controls (P ‫؍‬ .02). Patients carrying AAT mutations had higher ferritin (573 [454-966] vs. 348 [201-648]; P ‫؍‬ .001) with similar transferrin saturation. The difference was more evident in males (P < .0001) and significant in patients not carrying HFE genotypes associated with iron overload (P ‫؍‬ .015). The prevalence of non-MM genotypes was higher in patients with hyperferritinemia than in those without (28/195, 14% vs. 10/158, 6%, P ‫؍‬ .016), and AAT mutations were associated with higher prevalence of sinu

Who reads α1-Antitrypsin mutations in NAFLD: High prevalence and association with altered iron metabolism but not with liver damage?

Author

Luca Valenti; Paola Dongiovanni; Alberto Piperno; Anna Ludovica Fracanzani; Marco Maggioni; Raffaela Rametta; Paola Loria; Maria Antonietta Casiraghi; Elda Suigo; Roberto Ceriani; Erica Remondini; Paola Trombini; Silvia Fargion

Publisher

Ovid Technologies (Wolters Kluwer Health)

Published

2006

Language

EN

Field

Medicine (Health Sciences)