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

Michael C Giudici; Ferhaan Ahmad; Danniele G Holanda

doi:10.1093/ehjcr/ytz038

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

Eur Heart J Case Rep. 2019 Jun 1;3(2):ytz038. doi: 10.1093/ehjcr/ytz038.

Authors

Michael C Giudici¹, Ferhaan Ahmad¹, Danniele G Holanda²

Affiliations

¹ Department of Medicine, University of Iowa Hospitals, 200 Hawkins Drive, 4426JCP, Iowa City, IA, USA.
² Department of Pathology, University of Iowa Hospitals, 200 Hawkins Drive, 4426JCP, Iowa City, IA, USA.

Abstract

Background: 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.

Case summary: We report a case of a woman diagnosed at age 27 with PS when she presented with atrial fibrillation and pre-excitation on electrocardiogram. By age 35, she had developed mild renal insufficiency and a biopsy demonstrated IgA nephropathy (IGAN).

Discussion: This is the first reported case of IGAN in a patient with PS. We discuss both PS and IGAN and the potential mechanisms by which they could be related.

Keywords: PRKAG2; Case report; IgA nephropathy; Pre-excitation.