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: Tags: Research Highlight Source Type: research