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[Alport's syndrome in twins]
A Syrenicz1, S Czekalski, L Majkowska
1Kliniki Endokrynologii i Chorób Przemíany Materii PAM w Szczecinie.
Polski Tygodnik Lekarski (Warsaw, Poland : 1960)
|October 4, 1991
Summary
Alport syndrome, a hereditary kidney disease with hearing loss, was diagnosed in dizygotic twins. Diagnostic challenges included family history and childhood streptomycin use.
Area of Science:
- Nephrology
- Genetics
- Ophthalmology
Background:
- Alport syndrome is an inherited disorder characterized by progressive kidney disease (nephropathy) and sensorineural hearing loss.
- Ocular abnormalities, including retinal and lenticular changes, can also be present in Alport syndrome.
- Early diagnosis is crucial for managing potential complications like chronic renal failure.
Observation:
- The study diagnosed Alport syndrome in 32-year-old dizygotic twins presenting with nephropathy (microscopic hematuria, proteinuria, chronic renal failure).
- Both twins exhibited hearing loss and ocular disorders affecting the retina and lenses, along with a gothic palate.
- Glomerulitis was noted at ages 11 and 12, with hearing loss appearing a decade later, followed by renal failure.
Findings:
- The dizygotic twins presented with a classic triad of Alport syndrome: hereditary nephritis, hearing loss, and ocular abnormalities.
- The onset of symptoms varied, with glomerulitis appearing in adolescence and renal failure developing later in life.
- Diagnostic difficulties arose from a lack of family history and potential confounding factors like childhood streptomycin exposure.
Implications:
- This case highlights the importance of considering Alport syndrome in individuals with unexplained nephropathy and hearing loss, even without a clear family history.
- Recognizing the variable presentation and potential diagnostic mimics is essential for timely intervention and management.
- Further research into genetic counseling and early diagnostic markers for Alport syndrome is warranted.