Patient with a PRKAG2 mutation who developed Immunoglobulin A nephropathy: a case report.

ABSTRACT: PRKAG2 syndrome (PS) is a rare, early-onset autosomal dominant inherited disease caused by mutations in PRKAG2, the gene encoding the regulatory γ2 subunit of adenosine monophosphate-activated protein kinase. PRKAG2 syndrome is associated with many cardiac manifestations, including pre-excitation, arrhythmias, left ventricular hypertrophy, and chronotropic incompetence frequently leading to early pacemaker placement. A meta-analysis of genome-wide association data in subjects with chronic kidney disease (CKD) identified a susceptibility locus in an intron of PRKAG2, which has been replicated in other studies. However, CKD has not been reported in patients with PS or mutations in PRKAG2. We report a case of a woman diagnosed at age 27 with PS when she presented with atrial fibrillation and

SUBMITTER: Giudici MC 

PROVIDER: S-EPMC6601182 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature