CASE REPORT
Clinical overlap and diagnostic difficulties in a patient with Lowe syndrome
 
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1
Student’s Scientific Group at the Department of Paediatric Nephrology, Medical University, Lublin, Poland
 
2
Department of Paediatric Nephrology, Medical University, Lublin, Poland
 
 
Submission date: 2023-05-09
 
 
Final revision date: 2023-07-09
 
 
Acceptance date: 2023-07-14
 
 
Publication date: 2024-03-05
 
 
Corresponding author
Adam Jan Strzoda
Adam Jan Strzoda, Student’s Scientific Group at the Department of Paediatric Nephrology, Medical University, Lublin, Poland
 
 
Pediatr Pol 2024;99(1):89-93
 
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ABSTRACT
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.
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