Abstract
1/2024
vol. 99
Case report
Clinical overlap and diagnostic difficulties in a patient with Lowe syndrome
- Student’s Scientific Group at the Department of Paediatric Nephrology, Medical University, Lublin, Poland
- Department of Paediatric Nephrology, Medical University, Lublin, Poland
Pediatr Pol 2024; 99 (1): 89 -93
Online publish date: 2024/03/05
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.
Keywords
renal proximal tubulopathy, vitamin D3 hypervitaminosis, Lowe syndrome
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