Lowe Syndrome
Lowe syndrome (oculocerebrorenal syndrome
of Lowe) is a rare X-linked disorder characterized by:
-
congenital cataracts ,
glaucoma and blindness often develop.
-
mental retardation,
hypotonia and hyporeflexia,
-
The renal abnormalities
are tubular and include: hypophosphatemic rickets with ↓ serum phosphorus
levels, low to normal serum calcium Levels,↑ serum alkaline phosphatase
levels,pRTA, and aminoaciduria.
- Significant
proteinuria is common.
- The disease is
caused by mutations in the OCRL1 gene, which codes for a Golgi aparatus phosphatase.
- There is no
specific therapy for the renal disease or neurologic deficits.
- Renal treatment may include alkali therapy, phosphate replacement, and
vitamin D support.
- Cataract removal
is generally required.
- Genetic
counselling.
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