Lowe's Syndrome (Oculocerebrorenal Syndrome)

Lowe's Syndrome Aetiology:

• This syndrome is a "genetic" condition.
• It is caused by a mutation in the OCRL1 gene.
• This gene codes for the essential enzyme PIP2-5-phosphatase is not produced in Lowe's Syndrome.

Lowe's Syndrome Diagnosis:

• Diagnosis is still largely clinical.
• Based on the presence of cataracts at birth in both eyes, plus a kidney disorder & a positive test for the enzyme deficiency.

Lowe's Syndrome - Renal Complications:

• Aminoaciduria
• Fanconi-type renal tubular dysfunction
• Phosphaturia
• Proteinuria
• Progressive renal failure
• Proximal renal tubular acidosis

Lowe's Syndrome - Non Renal Complications:

• Metabolic - CPK elevation
• Muscle - Areflexia, Hypotonia
• Neurological - Seizures
• Ophthalmic - Congenital cataracts, Glaucoma
• Psychiatric - Intellectual impairment, Mental retardation
• Skeletal - Vitamin D Resistant Rickets

Picture: Young boy with Lowe's syndrome.

Image thanks to Robert Thomson on flickr.com (creative commons).

Tags: Areflexia - Cataract - Hypotonia - Lowe's Syndrome - Mental Retardation - Oculocerebrorenal Syndrome - PIP2-5-phosphatase - Seizures

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