Autosomal dominant polycystic kidney disease combined with hypertrophic cardiomyopathy

Abstract

Introduction:This report describes the novel sampling of autosomal dominant polycystic kidney disease (ADPKD) combined with hypertrophic cardiomyopathy (HCM).Symptoms and clinical findings:A 48-year-old Chinese man presented with anasarca, hypourocrinia, gross hematuria, and weight gain by 10 kg subsequently developed acute kidney injury after struck by acute respiratory distress syndrome, really a threat to his heart.Diagnoses:Abdominal ultrasound revealed multiple small cysts in both kidneys, with the right kidney measuring 11.6 cm in length, and the left kidney measuring 11.5 cm in length, which supported ADPKD. Echocardiography showed left ventricular posterior wall thickness measuring 15.2 mm, interventricular septum measuring 17.2 mm, left atrial size 31.9 mm, ejection fraction measuring 69%, approving the diagnose of HCM.Therapeutics interventions:Because of the failure treatment with tripterygium wilfordii and valsartan, the patient was administered with prednisone 1 mg/kg/day. Continuous renal replacement therapy was required to prevent heart and kidney from failure.Outcomes:The patient responded well and his renal function improved.Conclusion:This is the first reported case of ADPKD with HCM, with complete remission of acute kidney injury and preservation of cardiac function. Serial checks and measures should be considered for appropriate treatment of ADPKD patient who present with rapid decline of renal function. We present detailed analysis of the patient's disease course and review literature. Written informed consent was obtained from the patient for publication of this case report. It has been permitted by Committee on Ethics of Biomedicine, Second Military Medical University.

Old-Age Onset Progressive Cardiac Contractile Dysfunction in a Patient with Polycystic Kidney Disease Harboring a <i>PKD1</i> Frameshift Mutation

“…Cases of hypertrophic obstructive cardiomyopathy (HOCM), hypertrophic cardiomyopathy (HCM), or left ventricular noncompaction (LVNC) with ADPKD were previously re-ported. [26][27][28][29][30] A recent epidemiological study that assessed the association of PKD with cardiomyopathy surveying 667 patients diagnosed with ADPKD 5) clarified that among the 58 patients with available echocardiography data, 39 (5.8%) had idiopathic DCM, 17 (2.5%) had HOCM, and 2 (0.3%) had LVNC. The mean ages of diagnosis of IDCM and HOCM are 53.3 and 59.9 years old, respectively.…”