Lowe syndrome
What are the causes?
The cause of Lowe syndrome has been identified as mutation of the OCRL1
gene on the X chromosome. Recently, mutations in the same gene have
also been found to cause a different syndrome, Dent disease. Patients
with Dent disease have similar kidney problems to patients with Lowe
syndrome but do not have the other features found in Lowe syndrome. The
exact relationship between Lowe syndrome and Dent disease remains to be
worked out.
What are the symptoms?
| How is it diagnosed? ![]()