Oculocerebrorenal syndrome

Oculocerebrorenal syndrome (also called Lowe syndrome) is a X-linked recessive disorder characterized by hydrophthalmia, cataracts, intellectual disabilities, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets.

It is associated with the gene OCRL.

Lowe syndrome can be considered a cause of Fanconi syndrome.^[1]

Lowe Syndrome (LS) is a rare genetic condition that causes physical and mental handicaps, and medical problems. It was first described in 1952 by Drs. Lowe, Terrey, and MacLachlan at the Massachusetts General Hospital in Boston.

The condition became known as "Lowe syndrome" named after Dr. Charles Lowe, the senior member of the group that described it. Because of the three major organ systems involved (eyes, brain, and kidney), it is also known as OCRL (oculo-cerebro-renal) syndrome.

Boys with Lowe Syndrome are born with cataracts in both eyes, which are usually removed at a few months of age. Most boys are fitted with glasses, contacts, or a combination of the two. Glaucoma is present in about 50% of the boys with Lowe syndrome, though usually not at birth. Prescription eye drop and/or surgery is required to maintain appropriate eye pressure in these cases.

While not present at birth, many Lowe Syndrome boys develop kidney problems at approximately one year of age. This is characterized by the 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 is known as Fanconi-type renal tubular dysfunction and can also be seen in certain other diseases and syndromes. In Lowe syndrome, the Fanconi syndrome may be mild and involve only a few substances or may be severe and involve large losses of many substances. Medications can be prescribed to replace the lost substances.

The Cause Lowe syndrome is a hereditary condition that affects only males. It is caused by a single defective gene (an alteration or "mutation") in a gene called OCRL1. Because of this defective gene, an essential enzyme called PIP2-5-phosphatase is not produced. This is the underlying cause of Lowe syndrome. Much research has taken place in the last few years. The gene has been mapped and the defecient enzyme has been identified, although its role is not fully understood.

Eponym

It is named for Charles Upton Lowe.^[2][3]

References

1. ^ Vilasi A, Cutillas PR, Maher AD, et al. (August 2007). "Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome". Am. J. Physiol. Renal Physiol. 293 (2): F456–67. doi:10.1152/ajprenal.00095.2007. PMID 17494094. http://ajprenal.physiology.org/cgi/pmidlookup?view=long&pmid=17494094. 
2. ^ synd/3512 at Who Named It?
3. ^ Lowe CU, Terrey M, MacLachlan EA (1952). "Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity". A.M.A. American journal of diseases of children 83 (2): 164–84. PMID 14884753. 

External links

• Lowe Syndrome Association Official Website
• U.K. Lowe Syndrome Trust
• GeneReview/NIH/UW entry on Lowe Syndrome