Oculocerebrorenal syndrome

Oculocerebrorenal syndrome, also called Lowe syndrome, is a rare disorder inherited in an X-linked recessive pattern. Its name points to the three organ groups involved: the eyes, the brain and the kidneys. It is characterized by congenital cataracts, low muscle tone (hypotonia), intellectual disability, proximal tubular acidosis, excess amino acids in the urine (aminoaciduria) and loss of small proteins in the urine, known as low-molecular-weight proteinuria. Because of the kidney findings, Lowe syndrome can be considered a cause of Fanconi syndrome, in which the kidney tubules lose bicarbonate, potassium and sodium and develop renal tubular acidosis. This entry records what a general reference article states and is not medical advice.