Oculocerebrorenal syndrome
| Oculocerebrorenal syndrome | |
|---|---|
| Other names | Lowe syndrome |
| Infant with oculocerebrorenal syndrome | |
| Specialty | Obstetrics and gynaecology, urology, neurology, medical genetics, endocrinology |
| Symptoms | Cataracts[1] |
| Causes | Mutations in OCRL gene[1] |
| Diagnostic method | MRI, urinalysis[2] |
| Treatment | Physical therapy, clomipramine[3] |
Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria and low-molecular-weight proteinuria. Lowe syndrome can be considered a cause of Fanconi syndrome (bicarbonaturia, renal tubular acidosis, potassium loss and sodium loss[4]).[5][6]
- ^ a b Cite error: The named reference
emedwas invoked but never defined (see the help page). - ^ Cite error: The named reference
lowewas invoked but never defined (see the help page). - ^ Cite error: The named reference
orpwas invoked but never defined (see the help page). - ^ "Fanconi syndrome: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 2016-12-21.
- ^ Lewis, Richard Alan; Nussbaum, Robert L.; Brewer, Eileen D. (1993-01-01). "Lowe Syndrome". In Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301653.update 2012
- ^ "OMIM Entry - # 309000 - LOWE OCULOCEREBRORENAL SYNDROME; OCRL". omim.org. Retrieved 21 December 2016.