1. Palm-Plant Pain, Sign of a Severe Systemic Disease? Case Report and Review of Literature.
- Author
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Starcea, Iuliana Magdalena, Bodescu Amancei Ionescu, Lavinia, Lazaruc, Tudor Ilie, Lupu, Vasile Valeriu, Bogos, Roxana Alexandra, Ioniuc, Ileana, Dragan, Felicia, Lupu, Ancuta, Galatanu, Laura Stefana, Miron, Ingrith Crenguta, and Mocanu, Adriana
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CHRONIC kidney failure , *LYSOSOMAL storage diseases , *EXTRAPULMONARY tuberculosis , *NEUROLOGICAL disorders , *ANGIOKERATOMA corporis diffusum , *PALMS - Abstract
Fabry disease is an X-linked lysosomal storage disease, second in prevalence after Gaucher disease. The onset of symptoms occurs in childhood or adolescence with palmo-plantar burning pains, hypo hidrosis, angiokeratomas, and corneal deposits. In the absence of diagnosis and treatment, the disease will progress to the late phase, characterized by progressive cardiac, cerebral and renal damage, and possible death. We present the case of an 11-year-old male boy who was transferred to the Pediatric Nephrology Department for palmo-plantar burning pain and end stage renal disease. Following the evaluations for the etiology of end stage renal disease we excluded the vasculitis, the neurologic diseases, extrapulmonary tuberculosis. Because of suggestive aspect at CT scan and lack of etiologic diagnosis of renal insufficiency we performed lymph node and kidney biopsy, with a surprising result for storage disease. The specific investigation confirmed the diagnosis. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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