Lowe's syndrome

Lowe's syndrome, also known as oculocerebrorenal syndrome, is a rare X-linked genetic disorder characterized by abnormalities affecting the eyes, brain, and kidneys. Patients typically present with congenital cataracts, glaucoma, intellectual disability, and renal tubular dysfunction leading to proteinuria and aminoaciduria.

This code is used when documentation clearly identifies a diagnosis of Lowe's syndrome. It is appropriate for patients exhibiting the classic triad of ocular, neurological, and renal manifestations consistent with this genetic condition. Supporting documentation should include genetic testing results or a comprehensive clinical evaluation by a specialist.

• Ensure documentation specifies "Lowe's syndrome" or "oculocerebrorenal syndrome" to avoid confusion with other metabolic disorders.
• Code all associated manifestations, such as cataracts (H25.0-), glaucoma (H40.-), and specific renal tubular disorders (N25.0), in addition to the primary diagnosis.
• Consider genetic counseling (Z31.5) if genetic testing is performed or recommended.