title: Autosomal recessive polycystic kidney disease (ARPKD).
abstract: Autosomal recessive polycystic kidney disease (ARPKD) is an important hereditary early childhood nephropathy. However, the clinical ARPKD spectrum is much more variable than is generally presumed. Presentation of ARPKD at a later age and survival into adulthood is well known. Diagnostic criteria, clinical course, differential diagnoses, genetics and molecular biology will be discussed along with the advantages and limitations of mutation detection in clinical practice.
authors.affiliation: Institute for Human Genetics, Aachen University of Technology, Aachen, Germany. kzerres@ukaachen.de
authors.forename: Klaus
authors.initials: K
authors.lastname: Zerres
authors.forename: Sabine
authors.initials: S
authors.lastname: Rudnik-Schöneborn
authors.forename: Jan
authors.initials: J
authors.lastname: Senderek
authors.forename: Thomas
authors.initials: T
authors.lastname: Eggermann
authors.forename: Carsten
authors.initials: C
authors.lastname: Bergmann
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D009154:Mutation; D010641:Phenotype; D017044:Polycystic Kidney, Autosomal Recessive / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D011296:Prenatal Diagnosis; D011956:Receptors, Cell Surface / Q000235:genetics; D016019:Survival Analysis
chemical_list: C451750:PKHD1 protein, human; D011956:Receptors, Cell Surface