Related Experiment Videos
Hereditary nephritis associated with low-tone sensorineural hearing difficulty: a case report
O Motoyama1, M Ohshima, Y Shigetomi
1First Department of Pediatrics, Toho University School of Medicine, Tokyo, Japan.
Nihon Jinzo Gakkai Shi
|May 1, 1996
Summary
This study reports a rare case of Alport syndrome in a 14-year-old girl with hematuria, proteinuria, and hearing loss. The family history revealed similar kidney issues, highlighting a potential genetic link.
Area of Science:
- Nephrology
- Genetics
- Otolaryngology
Background:
- Alport syndrome is a genetic disorder affecting the kidneys, often causing hematuria and proteinuria.
- It is characterized by mutations in collagen genes, leading to glomerular basement membrane abnormalities.
- Sensorineural hearing loss and ocular abnormalities can also be associated with Alport syndrome.
Observation:
- A 14-year-old female proband presented with nephrotic syndrome and renal dysfunction, alongside a family history of hematuria and proteinuria.
- Renal biopsy revealed characteristic glomerular basement membrane abnormalities and interstitial foam cells.
- Audiological studies detected bilateral low-tone sensorineural hearing difficulty in the proband and her brother.
Findings:
- The proband exhibited progressive kidney disease and previously unreported familial low-tone hearing difficulty.
- Electron microscopy confirmed splitting and thinning of the glomerular basement membrane, a hallmark of Alport syndrome.
- The co-occurrence of Alport syndrome with familial low-tone hearing loss is a novel observation.
Implications:
- This case expands the known clinical spectrum of Alport syndrome.
- Early audiological screening may be crucial for affected individuals and families.
- Further research into the genetic basis of this specific presentation is warranted.