Lowe syndrome
<p>Abstract</p> <p>Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. It is a uncommon, panethnic, X-linked disease, with estimated prevalence in the general populat...
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2006-05-01
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| Series: | Orphanet Journal of Rare Diseases |
| Online Access: | http://www.OJRD.com/content/1/1/16 |
| _version_ | 1818229220148510720 |
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| author | Loi Mario |
| author_facet | Loi Mario |
| author_sort | Loi Mario |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. It is a uncommon, panethnic, X-linked disease, with estimated prevalence in the general population of approximately 1 in 500,000. Bilateral cataract and severe hypotonia are present at birth. In the subsequent weeks or months, a proximal renal tubulopathy (Fanconi-type) becomes evident and the ocular picture may be complicated by glaucoma and cheloids. Psychomotor retardation is evident in childhood, while behavioural problems prevail and renal complications arise in adolescence. The mutation of the gene <it>OCRL1 </it>localized at Xq26.1, coding for the enzyme phosphatidylinositol (4,5) bisphosphate 5 phosphatase, PtdIns (4,5)P2, in the trans-Golgi network is responsible for the disease. Both enzymatic and molecular testing are available for confirmation of the diagnosis and for prenatal detection of the disease. The treatment includes: cataract extraction, glaucoma control, physical and speech therapy, use of drugs to address behavioural problems, and correction of the tubular acidosis and the bone disease with the use of bicarbonate, phosphate, potassium and water. Life span rarely exceeds 40 years.</p> |
| first_indexed | 2024-12-12T10:15:08Z |
| format | Article |
| id | doaj.art-ca1283beaeb44896a079f0e910d59469 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-12T10:15:08Z |
| publishDate | 2006-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-ca1283beaeb44896a079f0e910d594692022-12-22T00:27:41ZengBMCOrphanet Journal of Rare Diseases1750-11722006-05-01111610.1186/1750-1172-1-16Lowe syndromeLoi Mario<p>Abstract</p> <p>Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. It is a uncommon, panethnic, X-linked disease, with estimated prevalence in the general population of approximately 1 in 500,000. Bilateral cataract and severe hypotonia are present at birth. In the subsequent weeks or months, a proximal renal tubulopathy (Fanconi-type) becomes evident and the ocular picture may be complicated by glaucoma and cheloids. Psychomotor retardation is evident in childhood, while behavioural problems prevail and renal complications arise in adolescence. The mutation of the gene <it>OCRL1 </it>localized at Xq26.1, coding for the enzyme phosphatidylinositol (4,5) bisphosphate 5 phosphatase, PtdIns (4,5)P2, in the trans-Golgi network is responsible for the disease. Both enzymatic and molecular testing are available for confirmation of the diagnosis and for prenatal detection of the disease. The treatment includes: cataract extraction, glaucoma control, physical and speech therapy, use of drugs to address behavioural problems, and correction of the tubular acidosis and the bone disease with the use of bicarbonate, phosphate, potassium and water. Life span rarely exceeds 40 years.</p>http://www.OJRD.com/content/1/1/16 |
| spellingShingle | Loi Mario Lowe syndrome Orphanet Journal of Rare Diseases |
| title | Lowe syndrome |
| title_full | Lowe syndrome |
| title_fullStr | Lowe syndrome |
| title_full_unstemmed | Lowe syndrome |
| title_short | Lowe syndrome |
| title_sort | lowe syndrome |
| url | http://www.OJRD.com/content/1/1/16 |
| work_keys_str_mv | AT loimario lowesyndrome |