Autosomal recessive polycystic kidney disease (ARPKD).
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.
Zerres
Klaus
K
Institute for Human Genetics, Aachen University of Technology, Aachen, Germany. kzerres@ukaachen.de
Rudnik-Schöneborn
Sabine
S
Senderek
Jan
J
Eggermann
Thomas
T
Bergmann
Carsten
C
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
C451750:PKHD1 protein, human; D011956:Receptors, Cell Surface