Abstract: AbstractBackgroundLowe syndrome and Dent-2 disease are caused by mutations in theOCRLgene, which encodes for an inositol 5-phosphatase. The renal phenotype associated withOCRLmutations typically comprises a selective proximal tubulopathy, which can manifest as Fanconi syndrome in the most extreme cases.MethodsHere, we report a 12-year-old male with nephrotic-range proteinuria and focal segmental glomerulosclerosis on renal biopsy. As a glomerular pathology was suspected, extensive investigation of tubular function was not performed.ResultsSurpr...
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Topics: 
Internal medicine
Endocrinology