Autosomal dominant polycystic kidney disease combined with hypertrophic cardiomyopathy: A case report

Yingjing Shen1, Chenggang Xu

  • 1Department of Nephrology, Third Affiliated Hospital of Second Military Medical University, Shanghai, China.

Medicine
|November 18, 2017
PubMed

Insights

This case report details a patient with autosomal dominant polycystic kidney disease (ADPKD) and hypertrophic cardiomyopathy (HCM) who experienced acute kidney injury. Treatment led to remission of kidney injury and preserved cardiac function.

Area of Science:

  • Nephrology
  • Cardiology
  • Genetics

Background:

  • Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder.
  • Hypertrophic cardiomyopathy (HCM) is a cardiac condition often linked to genetic factors.
  • The co-occurrence of ADPKD and HCM is rare and presents complex clinical challenges.

Observation:

  • A 48-year-old male presented with symptoms of fluid overload and acute kidney injury (AKI).
  • Diagnostic imaging confirmed ADPKD with enlarged kidneys and HCM with significant left ventricular hypertrophy.
  • Initial treatments for ADPKD and associated complications were ineffective.

Findings:

  • The patient developed AKI following acute respiratory distress syndrome, posing a cardiac risk.
  • Treatment with prednisone and continuous renal replacement therapy resulted in improved renal function.
  • This represents the first reported case of ADPKD coexisting with HCM, achieving complete AKI remission and cardiac function preservation.

Implications:

  • Early detection and management are crucial for ADPKD patients experiencing rapid renal function decline.
  • This case highlights the importance of considering cardiac complications in ADPKD patients.
  • Further research into the interplay between ADPKD and HCM is warranted.
Abstract

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
540
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
608
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
493
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
640
Chronic Kidney Disease I: Introduction01:25

Chronic Kidney Disease I: Introduction

Chronic Kidney Disease (CKD) arises when the kidneys progressively lose their ability to function, ultimately leading to end-stage renal disease. At this advanced stage, the kidneys can no longer filter waste or maintain essential body functions, requiring renal replacement therapy (RRT) through dialysis or a kidney transplant for survival.Early-stage chronic kidney disease and detection challengesIn CKD's early stages, symptoms often remain absent because healthy nephrons compensate for...
798
Chronic Kidney Disease III: Interprofessional Care01:28

Chronic Kidney Disease III: Interprofessional Care

Chronic kidney disease (CKD) requires collaborative and comprehensive management. CKD progresses through stages and can lead to end-stage kidney disease (ESKD) if untreated. Interprofessional collaboration and patient education are crucial, enabling patients to manage their health and improve their quality of life.Diagnostic approach for chronic kidney diseaseThe diagnosis of CKD primarily focuses on the glomerular filtration rate (GFR), which assesses kidney function by measuring how well...
494