[Indirect genotype analysis in 2 families with early manifestation of autosome dominant polycystic nephropathy].
Autosomal dominant polycystic kidney disease (ADPKD) is one of the commonest dominantly inherited disease with an estimated incidence of 1 in 1000. In the majority of cases the ADPKD gene locus is linked to chromosome 16p13.3-markers (PKD1). It has been estimated that approximately 2 percent of PKD1 gene carriers already present with severe clinical manifestation in childhood. In two families with early manifestation of ADPKD, DNA studies with markers of chromosome 16p allowed the determination of carrier status. A preclinical (predictive) DNA analysis of possible PKD gene carriers in childhood should not be performed as a routine examination. However, children of PKD gene carriers should be examined by pediatric nephrologists in order to allow early treatment of possible complications.
Schuster
V
V
Kinderklinik der Universität Würzburg.
Uhlhaas
S
S
Horwitz
A E
AE
Zerres
K
K
D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002885:Chromosomes, Human, Pair 16; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D005819:Genetic Markers / Q000235:genetics; D005838:Genotype; D006801:Humans; D006977:Hypertension, Renal / Q000175:diagnosis / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000175:diagnosis / Q000235:genetics*
D005819:Genetic Markers
Indirekte Genotypanalyse in zwei Familien mit Frühmanifestation der autosomal dominanten polyzystischen Nephropathie (ADPKD).