Polycystic kidney disease: PMM2 mutation causes PKD and hyperinsulinism
Nature Reviews Nephrology 13, 321 (2017).
doi:10.1038/nrneph.2017.58
Author: Ellen F. Carney
Researchers have identified a previously undescribed genetic disorder that presents with hyperinsulinaemic hypoglycaemia (HI) and polycystic kidney disease (PKD) in childhood (HIPKD). They report that this disease is caused by a promoter mutation in PMM2, which encodes the N-glycosylation enzyme phosphomannomutase 2.The coexistence
Source: Nature Reviews Nephrology - Category: Urology & Nephrology Authors: Ellen F. Carney Tags: Research Highlight Source Type: research