Lowe syndrome
2006
Lowe Syndrome Overview
publication
Evidence: moderate
Author Information
Author(s): Loi Mario
Primary Institution: Division of Paediatric Neurology, G. Brotzu Hospital, Cagliari, Italy
Conclusion
Lowe syndrome is a rare, X-linked disorder characterized by eye, kidney, and nervous system anomalies, with a life expectancy rarely exceeding 40 years.
Supporting Evidence
- Lowe syndrome has an estimated prevalence of approximately 1 in 500,000 in the general population.
- Congenital bilateral cataract is present at birth in all patients with Lowe syndrome.
- Renal Fanconi syndrome may present in the first months of life and varies in severity.
- About 10% of patients show slight mental retardation, while many exhibit severe behavioral problems.
Takeaway
Lowe syndrome is a rare disease that affects boys more than girls, causing problems with the eyes, kidneys, and brain, and people with it often don't live very long.
Participant Demographics
The disease primarily affects males, with some rare cases in females.
Digital Object Identifier (DOI)
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