Danon disease: Two case reports and literature review
Kun Yu1, Bingnan Peng2, Dandan Zhao3
1Department of Neurology, Zibo Central Hospital, Zibo City, Shandong Province, China.
Rationale:
Danon disease (DD) is an X-linked lysosomal storage disorder caused by LAMP2 variants, with males presenting more severe phenotypes. However, evidence for genotype-phenotype correlation remains limited. This study reports 2 male DD patients with distinct LAMP2 mutations to clarify mutation-specific prognostic differences.
Patient Concerns:
A 15-year-old male: chest tightness and palpitations, creatine kinase (CK) 3867 U/L, and hypertrophic cardiomyopathy. A 12-year-old male: exertional dyspnea and syncope, left ventricular ejection fraction 36%, left ventricular thrombus, and CK 5210 U/L.
Diagnoses:
Both were diagnosed with DD via genetic testing: the 15-year-old had a LAMP2 IVS6 + 1G > T splice mutation, and the 12-year-old carried a LAMP2 exon 1 deletion.
Interventions:
The 15-year-old underwent heart transplantation followed by immunosuppressive therapy. The 12-year-old received only symptomatic treatment without transplantation.
Outcomes:
The 15-year-old had normal cardiac function and normalized CK levels during 24-month posttransplant follow-up. The 12-year-old died of heart failure 8 months after diagnosis.
Lessons:
LAMP2 mutation types correlate with DD severity. Heart transplantation improves prognosis in severe cases, emphasizing the importance of early diagnosis and intervention.
More Related Videos
07:35A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports
Published on: October 13, 2023
11:44Long Term Intravital Multiphoton Microscopy Imaging of Immune Cells in Healthy and Diseased Liver Using CXCR6.Gfp Reporter Mice
Published on: March 24, 2015
Related Concept Videos
01:10Review and Preview
Percentiles are a type of fractile that partition data into...
01:13Review and Preview
01:24Data Reporting and Recording
01:25Types of Reports I: Hands-off Report
Following are the key components and categories of hand-off reports:
Purpose and Process:
01:21Types of Reports II: Incident or Occurrence Report
Purposes:
In the healthcare industry, reports play a crucial role in documenting incidents within an agency. The primary objective of these reports is to ensure patient safety, uphold the...
01:26Types of Reports III: Telephone and Verbal Reports
Here's an overview of each type:
Telephone Orders