Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations
L Furu, LF Onuchic, ALI Gharavi, X Hou… - Journal of the …, 2003 - journals.lww.com
Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is a hereditary and
severe form of polycystic disease affecting the kidneys and biliary tract with an estimated
incidence of 1 in 20,000 live births. The clinical spectrum is widely variable: up to 50% of
affected neonates die shortly after birth, whereas others survive to adulthood. Mutations at a
single locus, polycystic kidney and hepatic disease 1 (PKHD1), are responsible for all typical
forms of ARPKD. Mutation detection was performed in PKHD1 by DHPLC in 85 affected …
severe form of polycystic disease affecting the kidneys and biliary tract with an estimated
incidence of 1 in 20,000 live births. The clinical spectrum is widely variable: up to 50% of
affected neonates die shortly after birth, whereas others survive to adulthood. Mutations at a
single locus, polycystic kidney and hepatic disease 1 (PKHD1), are responsible for all typical
forms of ARPKD. Mutation detection was performed in PKHD1 by DHPLC in 85 affected …