[From gene to disease; PKHD1 and recessive polycystic kidney disease].
Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease characterised by enlarged kidneys and congenital hepatic fibrosis. The disease has an incidence of 1:7000-:20,000 and is caused by mutations in the PKHD1 gene, which under normal conditions produces the protein fibrocystin, also named polyductin. This protein may be a transmembrane receptor or ligand that plays a role in collecting duct and biliary differentiation. The major site of expression is the primary cilium, and in particular the basal body of the cilium, underlining a link between aberrant cilial function and cystogenesis. Prenatal diagnostics is possible using DNA analysis or ultrasonography.
Peters
D J M
DJ
Afd. Humane Genetica, Leids Universitair Medisch Centrum, Centrum voor Humane en Klinische Genetica, Postbus 9600, 2300 RC Leiden.
Losekoot
M
M
de Die-Smulders
C E M
CE
Stevens-Baldewijns
M
M
Breuning
M H
MH
D006801:Humans; D007668:Kidney / Q000473:pathology; D017044:Polycystic Kidney, Autosomal Recessive / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000235:genetics* / Q000378:metabolism; D016216:Ultrasonography, Prenatal
C451750:PKHD1 protein, human; D011956:Receptors, Cell Surface