Clinical overlap and diagnostic difficulties in a patient with Lowe syndrome
Lowe syndrome (oculocerebrorenal syndrome of Lowe – LS) is an ultra-rare, recessive X-linked, multisystem disorder that primarily occurs in males and affects the eyes, nervous system, and kidneys. It is a consequence of mutation of the OCRL gene on chromosome Xq25-26, which encodes phosphatidylinosi...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Termedia Publishing House
2024-03-01
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| Series: | Pediatria Polska |
| Subjects: | |
| Online Access: | https://www.termedia.pl/Clinical-overlap-and-diagnostic-difficulties-in-a-patient-with-Lowe-syndrome,127,52503,1,1.html |
| _version_ | 1797215355116978176 |
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| author | Adam Jan Strzoda Aleksandra Sobieszczańska-Droździel Magdalena Kamińska |
| author_facet | Adam Jan Strzoda Aleksandra Sobieszczańska-Droździel Magdalena Kamińska |
| author_sort | Adam Jan Strzoda |
| collection | DOAJ |
| description | Lowe syndrome (oculocerebrorenal syndrome of Lowe – LS) is an ultra-rare, recessive X-linked, multisystem disorder that primarily occurs in males and affects the eyes, nervous system, and kidneys. It is a consequence of mutation of the OCRL gene on chromosome Xq25-26, which encodes phosphatidylinositol 4,5-bisphosphate 5 phosphatase, a protein present in the Golgi complex, lysosomes, and endosomes. The most common symptoms of LS involve congenital cataracts, neurological retardation, and incomplete Fanconi syndrome, ultimately leading to end-stage renal disease between the second and fourth decade of life. The authors present a boy with the intoxication of vitamin D3 and suspicion of congenital cytomegaly eventually diagnosed with LS at the age of 16 months. |
| first_indexed | 2024-04-24T11:28:45Z |
| format | Article |
| id | doaj.art-52dd70c09e16402fa110fefd9240fd39 |
| institution | Directory Open Access Journal |
| issn | 0031-3939 2300-8660 |
| language | English |
| last_indexed | 2024-04-24T11:28:45Z |
| publishDate | 2024-03-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Pediatria Polska |
| spelling | doaj.art-52dd70c09e16402fa110fefd9240fd392024-04-10T12:29:00ZengTermedia Publishing HousePediatria Polska0031-39392300-86602024-03-01991899310.5114/polp.2024.13584752503Clinical overlap and diagnostic difficulties in a patient with Lowe syndromeAdam Jan StrzodaAleksandra Sobieszczańska-DroździelMagdalena KamińskaLowe syndrome (oculocerebrorenal syndrome of Lowe – LS) is an ultra-rare, recessive X-linked, multisystem disorder that primarily occurs in males and affects the eyes, nervous system, and kidneys. It is a consequence of mutation of the OCRL gene on chromosome Xq25-26, which encodes phosphatidylinositol 4,5-bisphosphate 5 phosphatase, a protein present in the Golgi complex, lysosomes, and endosomes. The most common symptoms of LS involve congenital cataracts, neurological retardation, and incomplete Fanconi syndrome, ultimately leading to end-stage renal disease between the second and fourth decade of life. The authors present a boy with the intoxication of vitamin D3 and suspicion of congenital cytomegaly eventually diagnosed with LS at the age of 16 months.https://www.termedia.pl/Clinical-overlap-and-diagnostic-difficulties-in-a-patient-with-Lowe-syndrome,127,52503,1,1.htmlrenal proximal tubulopathy vitamin d3 hypervitaminosis lowe syndrome. |
| spellingShingle | Adam Jan Strzoda Aleksandra Sobieszczańska-Droździel Magdalena Kamińska Clinical overlap and diagnostic difficulties in a patient with Lowe syndrome Pediatria Polska renal proximal tubulopathy vitamin d3 hypervitaminosis lowe syndrome. |
| title | Clinical overlap and diagnostic difficulties in a patient with Lowe syndrome |
| title_full | Clinical overlap and diagnostic difficulties in a patient with Lowe syndrome |
| title_fullStr | Clinical overlap and diagnostic difficulties in a patient with Lowe syndrome |
| title_full_unstemmed | Clinical overlap and diagnostic difficulties in a patient with Lowe syndrome |
| title_short | Clinical overlap and diagnostic difficulties in a patient with Lowe syndrome |
| title_sort | clinical overlap and diagnostic difficulties in a patient with lowe syndrome |
| topic | renal proximal tubulopathy vitamin d3 hypervitaminosis lowe syndrome. |
| url | https://www.termedia.pl/Clinical-overlap-and-diagnostic-difficulties-in-a-patient-with-Lowe-syndrome,127,52503,1,1.html |
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