Clinical overlap and diagnostic difficulties in a patient with Lowe syndrome
| Autor: | Adam Jan Strzoda, Aleksandra Sobieszczańska-Droździel, Magdalena Kamińska |
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| Jazyk: | angličtina |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | Pediatria Polska, Vol 99, Iss 1, Pp 89-93 (2024) |
| Druh dokumentu: | article |
| ISSN: | 0031-3939 2300-8660 |
| DOI: | 10.5114/polp.2024.135847 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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