| Oculocerebrorenal syndrome | |
|---|---|
| Other names | Lowe syndrome |
 | |
| Infant with oculocerebrorenal syndrome | |
| Specialty | Obstetrics and gynaecology,urology,neurology,medical genetics,endocrinology  |
| Symptoms | Cataracts[1] |
| Causes | Mutations inOCRLgene[1] |
| Diagnostic method | MRI,urinalysis[2] |
| Treatment | Physical therapy,clomipramine[3] |
Oculocerebrorenal syndrome (also calledLowe syndrome) is a rareX-linked recessive disorder characterized by congenital cataracts,hypotonia,intellectual disability,proximal tubularacidosis,aminoaciduria and low-molecular-weightproteinuria. Lowe syndrome can be considered a cause ofFanconi syndrome (bicarbonaturia, renal tubular acidosis,potassium loss andsodium loss[4]).[5][6]
Boys with Lowe syndrome are born withcataracts in both eyes;glaucoma is present in about half of the individuals with Lowe syndrome, though usually not at birth. While not present at birth, kidney problems develop in many affected boys at about one year of age.[1] Renal pathology is characterized by an abnormal loss of certain substances into theurine, includingbicarbonate,sodium,potassium,amino acids,organic acids,albumin,calcium andL-carnitine. This problem is known as Fanconi-type renal tubular dysfunction.[medical citation needed]
This syndrome is caused by mutations in theOCRL gene which encodes aninositol polyphosphate-5-phosphatase. At least one mechanism by which these mutations cause this syndrome is by loss of itsRab-bindingdomain.[7][8]
This protein is associated with the primarycilia of theretinal pigment epithelial cells,fibroblasts and kidneytubular cells. This suggests that this syndrome is due to dysfunction of the cilia in these cells.[8] About 120 mutations are associated with this condition andOCRL gene which is associated with oculocerebrorenal syndrome[9]
Diagnosis of oculocerebrorenal syndrome can be done viagenetic testing[10] Among the different investigations that can be done are:[2]
In terms of treatment of oculocerebrorenal syndrome for those individuals who are affected by this condition includes the following:[3]
Because oculocerebrorenal syndrome is anX-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.[11]
It was first described in 1952 by American paediatrician Charles Upton Lowe (1921–2012)[12][13] and colleagues at theMassachusetts General Hospital in Boston.[14] Because of the three major organ systems involved (eyes, brain and kidney), it is known as oculocerebrorenal syndrome.[1]
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