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Alport Syndrome May contribute to Grand Multiparity in a Typical Low Income Setting
Victoria I Ogala-Akogwu1,2, Peter K Uduagbamen3, Emmauuel A Anteyi2
1Nephrology Unit, Department of Medicine, State House Medical Centre, Abuja, Nigeria.
Ethiopian Journal of Health Sciences
|February 21, 2025
Summary
Alport syndrome, a genetic disorder affecting kidneys, hearing, and vision, caused a fatal outcome in a young male despite multiple transplants. This rare inherited condition highlights the severe impact of COL4A5 gene mutations.
Area of Science:
- Nephrology
- Genetics
- Ophthalmology
- Otolaryngology
Background:
- Alport syndrome (AS) is a rare inherited disorder impacting basement membranes in the kidneys, cochlea, and lens.
- It leads to progressive kidney disease, hearing loss, and visual deficits, potentially causing end-stage renal failure.
Observation:
- A 26-year-old male presented with edema, foamy urine, hematuria, and long-standing sensory impairments.
- He had three siblings with similar symptoms, suggesting a familial genetic condition.
Findings:
- Molecular genetic screening identified a pathogenic COL4A5 gene mutation, confirming X-linked Alport syndrome in the patient and three siblings.
- The patient experienced kidney failure, requiring hemodialysis and two unsuccessful kidney transplants, ultimately leading to his death.
Implications:
- This case underscores the severe, often fatal, progression of X-linked Alport syndrome.
- Familial deaths from AS may influence reproductive decisions, particularly in resource-limited environments, potentially contributing to grand multiparity.
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