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| Lowe syndrome ： ウィキペディア英語版 |
Oculocerebrorenal syndrome
Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia and areflexia, mental retardation, proximal tubular acidosis, aminoaciduria, phosphaturia, and low-molecular-weight proteinuria. Glaucoma is present in about 50% of cases.
Lowe syndrome can be considered a cause of Fanconi syndrome (bicarbonaturia, renal tubular acidosis, aminoaciduria, phosphaturia, tubular proteinuria, and impaired urine-concentrating ability).
==Presentation==
Because it is an X-linked recessive condition, the disease develops mostly in men with very rare occurrences in women, while women are carriers of the disease. It has an estimated prevalence of 1 in 500,000 people.〔Loi M. Lowe Syndrome. Orphanet Journal of Rare Diseases 2006,1:16〕 Boys with Lowe syndrome are born with cataracts 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.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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