Contents
Rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, intellectual disability, and proximal renal tubular dysfunction.
- Also known as Lowe syndrome
- X-linked recessive inheritance
Presentation
Classical triad:
- Dense congenital bilateral cataract (hallmark feature)
- Severe intellectual impairment
- Renal tubular dysfunction with slowly progressive renal failure
Other features:
- Postnatal growth retardation independent of kidney function
- Areflexia
- Nontender joint swelling
- Subcutaneous nodules
- Arthropathy (50% adult cases)
Complications
- Severe glaucoma with buphthalmos requiring surgical management (50% cases)
- Corneal scarring and keloids develop without prior trauma (25% cases)
- Renal Fanconi syndrome
Differntial diagnosis:
- Dent-2 disease