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March 8, 2019

Twitter Poll (March 7, 2019)

ANSWER: True

The presence of multiple exostoses due to mutation of the EXT1 gene has been described in a family. There are few isolated reports of extrarenal involvement in patients with type III collagen glomerulopathy, suggesting that the renal lesion may be part of systemic disease in some patients. 

References:

Cohen AH. Collagen Type III Glomerulopathies. Adv Chronic Kidney Dis. 2012;19(2):101-6.

Roberts IS, Gleadle JM. Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation. J Am Soc Nephrol. 2008;19:450-453