Renal-hepatic-pancreatic dysplasia type 2: Perinatal lethal condition or a multisystemic disorder with variable expressivity.

Kathryn A GuntherEssam M ImseisJoyce P SamuelElizabeth A HillmanTiina H OjalaTimo JahnukainenPaul R Hillman

Published in: Molecular genetics & genomic medicine (2023)

These patients serve to expand the existing phenotype of RHPD2 as a perinatal lethal condition into a pediatric disorder with variable expressivity. Additionally, we introduce the consideration of transplantation and outcomes within this cohort and future patients.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
pregnant women
type diabetes
patient reported outcomes
bone marrow
young adults
weight loss
insulin resistance
childhood cancer