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Twitter Poll (March 7, 2019)

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Mar 08, 2019

EXT1 Gene Mutation, EXT1, acute kidney injury, arkana Laboratories

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

 

 

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Quick note: This post is to be used for informational purposes only and does not constitute medical or health advice. Each person should consult their own doctor with respect to matters referenced. Arkana Laboratories assumes no liability for actions taken in reliance upon the information contained herein.