Article
Dialysis as a Treatment Option for a Patient With Normal Kidney Function and Familial Tumoral Calcinosis Due to a Compound Heterozygous FGF23 Mutation.
American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Sept 2018
Goldenstein Patrícia T, Neves Precil D, Balbo Bruno E, Elias Rosilene M, Pereira Alexandre C, Onuchic Luiz F, Jüppner Harald, Jorgetti Vanda, Abensur Hugo, Moysés Rosa Maria
Abstract excerpt
Primary tumoral calcinosis is a rare autosomal recessive disorder characterized by ectopic calcified tumoral masses. Mutations in 3 genes (GALNT3, FGF23, and KL) have been linked to this human disorder. We describe a case of a 28-year-old man with a history of painful firm masses over his right and left gluteal region, right clavicle region, knees, and left elbow. Biochemical analysis disclosed hyperphosphatemia...
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