Oculocerebrorenal syndrome | |
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Other names | Lowe syndrome |
Infant with oculocerebrorenal syndrome | |
Specialty | Obstetrics and gynaecology, urology, neurology, medical genetics, endocrinology |
Symptoms | Cataracts[1] |
Causes | Mutations in OCRL gene[1] |
Diagnostic method | MRI, urinalysis[2] |
Treatment | Physical therapy, clomipramine[3] |
Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria and low-molecular-weight proteinuria. Lowe syndrome can be considered a cause of Fanconi syndrome (bicarbonaturia, renal tubular acidosis, potassium loss and sodium loss[4]).[5][6]
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