Oculocerebrorenal syndrome

Signs and symptoms

Boys with Lowe syndrome are born with cataracts 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. Renal pathology is characterized by an abnormal loss of certain substances into the urine, including bicarbonate, sodium, potassium, amino acids, organic acids, albumin, calcium and L-carnitine. This problem is known as Fanconi-type renal tubular dysfunction.

Genetics

This syndrome is caused by mutations in the OCRL gene which encodes an inositol polyphosphate-5-phosphatase. At least one mechanism by which these mutations cause this syndrome is by loss of its Rab-binding domain.

This protein is associated with the primary cilia of the retinal pigment epithelial cells, fibroblasts and kidney tubular cells. This suggests that this syndrome is due to dysfunction of the cilia in these cells. File:Oculo-Cerebro-Renal Syndrome 1.jpg|Another Infant with Lowe Syndrome File:X-linked recessive.svg|X-link recessive inheritance

Diagnosis

Diagnosis of oculocerebrorenal syndrome can be done via genetic testing Among the different investigations that can be done are:

• Urinalysis
• MRI
• Blood test

Treatment

In terms of treatment of oculocerebrorenal syndrome for those individuals who are affected by this condition includes the following:

• Glaucoma control (via medication)
• Nasogastric tube feeding
• Physical therapy
• Clomipramine
• Potassium citrate

Epidemiology

Because oculocerebrorenal syndrome 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.

History

It was first described in 1952 by American paediatrician Charles Upton Lowe (1921–2012) and colleagues at the Massachusetts General Hospital in Boston. Because of the three major organ systems involved (eyes, brain and kidney), it is known as oculocerebrorenal syndrome.

References

References

1. "Fanconi syndrome: MedlinePlus Medical Encyclopedia".
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3. "OMIM Entry - # 309000 - LOWE OCULOCEREBRORENAL SYNDROME; OCRL".
4. (2016-06-01). "Oculocerebrorenal Syndrome: Background, Pathophysiology, Epidemiology".
5. Hagemann, Nina. (2017-06-01). "Crystal structure of the Rab binding domain of OCRL1 in complex with Rab8 and functional implications of the OCRL1/Rab8 module for Lowe syndrome". Small GTPases.
6. Reference, Genetics Home. "Lowe syndrome".
7. Reference, Genetics Home. "OCRL gene".
8. "Lowe syndrome - Conditions - GTR - NCBI".
9. "Lowe's (Oculo-Cerebro-Renal) Syndrome {{!}} Doctor {{!}} Patient".
10. RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Oculocerebrorenal syndrome of Lowe".
11. Loi M. (2006). "Lowe Syndrome". Orphanet Journal of Rare Diseases.
12. Kelly, Evelyn B.. (2013). "Encyclopedia of human genetics and disease". Greenwood.
13. Loring, David W.. (2015). "INS Dictionary of Neuropsychology and Clinical Neurosciences". Oxford University Press, Incorporated.
14. (1952). "Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity". American Journal of Diseases of Children.