Presentation
Because it is an X-linked recessive condition, the disease develops only in boys, while girls are carriers.
Boys with Lowe syndrome are born with cataract in both eyes (the hallmark of the disease). Glaucoma is present in about 50% of the patients with Lowe syndrome, though usually not at birth. While not present at birth, many affected boys develop kidney problems at about one year of age. Renal pathology is characterized by an abnormal loss of certain substances into the urine, including bicarbonate, sodium, potassium, amino acids, organic acids, albumin and other small proteins, calcium, phosphate, glucose, and L-carnitine. This problem, known as Fanconi-type renal tubular dysfunction, can also be seen in other diseases and syndromes.
Read more about this topic: Oculocerebrorenal Syndrome
Famous quotes containing the word presentation:
“He uses his folly like a stalking-horse, and under the presentation of that he shoots his wit.”
—William Shakespeare (1564–1616)