About the Lab
Autosomal recessive polycystic kidney disease (ARPKD; MIM 173900) and other recessive hepatorenal fibrocystic diseases (HRFD) constitute a relatively rare, but important subset of childhood nephropathies that cause significant childhood morbidity and, in some cases, mortality. However, current understanding about the clinical course, molecular pathogenesis, and disease prognosis in affected children is generally limited. Similarly, little is known about childhood autosomal dominant polycystic kidney disease (ADPKD), with the available data largely inferred from adult studies.
Our research group, the Childhood PKD Research Program, focuses on laboratory-based investigations and clinical research to advance the understanding of childhood polycystic kidney disease (PKD).
ADPedKD: A global online platform on the management of children with ADPKDDe Rechter S, Bockenhauer D, Guay-Woodford LM, Liu I, Mallett AJ, Soliman NA, Sylvestre LC, Schaefer F, Liebau MC, Mekahli D PMID: 31517146. PMCID PMC6732756. Kidney Int Rep 4:1271-1284 (2019)
Polycystic kidney diseaseBergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE PMID: 30523303. PMCID PMC6592047. Nat Rev Dis Primers 4:50 (2018)
Design and implementation of the HRFDCC Clinical Database: A centralized resource for characterizing autosomal recessive polycystic kidney disease and other hepatorenal fibrocystic diseases (HRFD)Alzarka B, H Morizono, J Bollman, DK Kim, and LM Guay-Woodford PMCID: PMC5397503 Front Pediatr 5:80. eCollection (2017)
Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: Report of an international conferenceGuay-Woodford, LM, JJ Bissler, MC Braun, D Bockenhauer, MA Cadnapaphornchai, KM Dell, L Kerecuk, MC Liebau, MH Alonso-Peclet, B Shneider, S Emre, T Heller, BM Kamath, KF Murray, K Moise, EE Eichenwald, J Evans, RL Keller, L Wilkins-Haug, C Bergmann, M Gunay-Aygun, SR Hooper24, KK Hardy, EA Hartung, R Streisand, R Perrone, and M Moxey-Mims PMID: 25015577. PMCID: PMC4723266. J Pediatr 165:611-617 (2014)
Cystin gene mutations cause autosomal recessive polycystic kidney disease associated with altered Myc expressionYang C, O’Connor AK, Kesterson RA, Watts JA, Majmundar AJ, Braun DA, Lek M, Laricchia KM, Fathy HM, Shril S, Friedhelm Hildebrandt F, and Guay-Woodford LM Kidney Int Rep (in press)