Article
A role for OCRL in glomerular function and disease.
Pediatric nephrology (Berlin, Germany) - 1 Apr 2020
Preston Rebecca, Naylor Richard W, Stewart Graham, Bierzynska Agnieszka, Saleem Moin A, Lowe Martin, Lennon Rachel
Abstract excerpt
BACKGROUND: Lowe syndrome and Dent-2 disease are caused by mutations in the OCRL gene, which encodes for an inositol 5-phosphatase. The renal phenotype associated with OCRL mutations typically comprises a selective proximal tubulopathy, which can manifest as Fanconi syndrome in the most extreme cases. METHODS: Here, we report a 12-year-old male with nephrotic-range proteinuria and focal segmental...
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