Progressive development of renal cysts in glycogen storage disease type I

In conclusion, renal pathology in GSDI is characterized by progressive tubular dysfunction and the development of polycystic kidneys that probably leads to the development of irreversible renal failure in the late stages. Systematic observations of cyst development by kidney imaging should improve the evaluation of the disease’s progression, independently of biochemical markers.

Source: Human Molecular Genetics - January 3, 2017 Category: Genetics & Stem Cells Authors: Gjorgjieva, M., Raffin, M., Duchampt, A., Perry, A., Stefanutti, A., Brevet, M., Tortereau, A., Dubourg, L., Hubert-Buron, A., Mabille, M., Pelissou, C., Lassalle, L., Labrune, P., Mithieux, G., Rajas, F. Tags: ARTICLES Source Type: research