Lowe-Kohn-Cohen syndrome

Lowe-Kohn-Cohen syndrome, also known as oculocerebrorenal syndrome of Lowe (OCRL), is a rare X-linked multisystem disorder primarily affecting the eyes, nervous system, and kidneys. The condition is caused by mutations in the OCRL gene located on the X chromosome, which encodes an enzyme (phosphatidylinositol 4,5-bisphosphate 5-phosphatase) important for intracellular signaling and protein trafficking. Because it is X-linked recessive, the syndrome predominantly affects males, while carrier females may show characteristic lens opacities. The hallmark clinical features include congenital bilateral cataracts (present at birth), intellectual disability of variable severity, and renal tubular dysfunction (Fanconi-type proximal renal tubular acidosis). Affected infants typically present with dense cataracts and severe hypotonia at birth. Neurological manifestations include developmental delay, behavioral difficulties, and seizures in some patients. The renal involvement is progressive and may include proteinuria, aminoaciduria, phosphaturia, and renal tubular acidosis, which can lead to chronic kidney disease over time. Additional features may include glaucoma, growth retardation, joint hypermobility, and a tendency to develop renal cysts. There is currently no cure for Lowe syndrome. Treatment is supportive and multidisciplinary, focusing on managing individual symptoms. Cataracts are typically removed surgically in infancy. Renal tubular losses of bicarbonate, phosphate, and other electrolytes require ongoing supplementation. Physical therapy, occupational therapy, and educational support are important for addressing developmental delays and hypotonia. Glaucoma requires careful ophthalmologic monitoring and may need medical or surgical intervention. Regular monitoring of kidney function is essential, as progressive renal insufficiency may develop in adolescence or adulthood.

Common questions about Lowe-Kohn-Cohen syndrome