ArticleEuropean heart journal. Case reports2019
Patient with a PRKAG2 mutation who developed Immunoglobulin A nephropathy: a case report.
Article in European heart journal. Case reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- Article
- Atrial Flutter in PRKAG2 Syndrome: Clinical and Electrophysiological Characteristics.Arquivos brasileiros de cardiologia · 2022Article
- Too much sugar leaves a sour taste: A cardiac disease caused by excess glycogen deposit.EBioMedicine · 2020Article
- Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease.EBioMedicine · 2020Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPRKAG2 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.
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