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

Autor:	Giudici MC; Department of Medicine, University of Iowa Hospitals, 200 Hawkins Drive, 4426JCP, Iowa City, IA, USA., Ahmad F; Department of Medicine, University of Iowa Hospitals, 200 Hawkins Drive, 4426JCP, Iowa City, IA, USA., Holanda DG; Department of Pathology, University of Iowa Hospitals, 200 Hawkins Drive, 4426JCP, Iowa City, IA, USA.
Jazyk:	angličtina
Zdroj:	European heart journal. Case reports [Eur Heart J Case Rep] 2019 Jun 01; Vol. 3 (2).
DOI:	10.1093/ehjcr/ytz038
Abstrakt:	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. (© The Author(s) 2019. Published by Oxford University Press on behalf of the European Society of Cardiology.)
Databáze:	MEDLINE
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