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Joubert syndrome diagnosed renally late
Elizabeth Collard1, Catherine Byrne2, Michalis Georgiou3
1School of Medical Education, Newcastle University, Newcastle upon Tyne, UK.
Joubert syndrome, a genetic disorder, usually affects kidneys in youth. This case highlights a rare late-onset renal failure in a 61-year-old woman, emphasizing lifelong kidney monitoring.
Area of Science:
- Genetics
- Nephrology
- Pediatrics
Background:
- Joubert syndrome is a rare genetic disorder affecting multiple systems.
- Kidney disease, specifically nephronophthisis, is a common complication, typically leading to renal failure in childhood or early adulthood.
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