Autosomal recessive polycystic kidney disease.
Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disorder which usually becomes clinically manifest in early childhood. With increasing knowledge and improving diagnostic techniques it has become evident that the spectrum of ARPKD is much more variable than was previously thought. Presentation of ARPKD at later ages and survival into adulthood is well known. Diagnostic criteria, clinical course, genetics and differential diagnosis of ARPKD are presented.
Zerres
K
K
Institut für Humangenetik, Universität Bonn, Germany.
Rudnik-Schöneborn
S
S
Steinkamm
C
C
Mücher
G
G
D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D003937:Diagnosis, Differential; D006801:Humans; D015994:Incidence; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D011296:Prenatal Diagnosis; D016019:Survival Analysis