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1/2024
vol. 99 abstract:
Case report
Clinical overlap and diagnostic difficulties in a patient with Lowe syndrome
Adam Jan Strzoda
1
,
Aleksandra Sobieszczańska-Droździel
2
,
Magdalena Kamińska
1
Pediatr Pol 2024; 99 (1): 89 -93
Online publish date: 2024/03/05
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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 |
POLSKI
