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Lowe disease
Clinical feature:
Definition: Lowe syndrome is an X-linked recessive disease characterized by profound mental retardation, cataracts, and renal abnormalities.
Clinical picture: The cataract is the first obvious symptom in patients with Lowe syndrome. It is present at birth already. Later on patient can develop glaucoma and nystagmus.
Although 25% of patient may have low normal intelligence, most of them show clear intellectual impairment. Also observed are areflexia and developmental delay. Some infants develop seizures.
Kidney dysfunktion is not as obvious in the first place. it is normal at birth. By the first year of life, however, patients develop proximal dysfunction which includes proteinuria, aminoaciduria (characteristically sparing branched-chain amino acids), variable glucosuria, and phosphaturia. Some patients develop hypophosphatemic rickets and neophrcalcinosis. Proteinuria is to blame for progressive renal failure which in the forties leads to end stage renal failure.
Diagnostics:
Diagnosis: The diagnosis is made by the typical clinical findings. There is no specific laboratory finding in patients with Lowe syndrome, so the clinical diagnosis can be confirmed by molecular genetic diagnostics only. The latter, by providing the molecular cause, offers the possibility of prenatal diagnosis.
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