The Diagnosis and Prognosis of Autosomal Dominant Polycystic Kidney Disease

• Published in: The New England journal of medicine Vol. 323; no. 16; pp. 1085 - 1090
• Main Authors: Parfrey, Patrick S, Bear, John C, Morgan, Janet, Cramer, Benvon C, McManamon, Patrick J, Gault, Mathew H, Churchill, David N, Singh, Manoj, Hewitt, Richard, Somlo, Stefan, Reeders, Stephen T
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 18-10-1990
• Subjects: Adult; Age; Biological and medical sciences; Chromosome 16; Chromosomes, Human, Pair 16; Confidence intervals; Cysts; Diagnosis; End-stage renal disease; Epidemiology; Genes, Dominant; Genetic Linkage; Genetics; Genomes; Genotype; Genotypes; Humans; Hypertension; Hypertension - etiology; Kidney diseases; Kidney Diseases - etiology; Kidney Failure, Chronic - etiology; Medical diagnosis; Medical prognosis; Medical sciences; Middle Aged; Mutation; Nephrology. Urinary tract diseases; Polycystic kidney; Polycystic Kidney Diseases - diagnosis; Polycystic Kidney Diseases - genetics; Polycystic Kidney Diseases - mortality; Prognosis; Renal failure; Sensitivity and Specificity; Studies; Ultrasonic imaging; Ultrasonography; Ultrasound; Urinary tract diseases; Urinary tract infections; Urogenital system; Renal disease; Prognosis; Diagnosis; Family study; Polycystic kidney
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJM199010183231601

AUTOSOMAL dominant polycystic kidney disease is responsible for 6 to 9 percent of cases of end-stage renal disease in North America
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and Europe.
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About 1 in 1000 persons carries a mutant gene for this condition.
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The disease can be diagnosed before symptoms develop by ultrasonographic imaging of the kidneys for renal cysts. Because these cysts are ordinarily not detectable in children but become both more numerous and larger with age, the interpretation of negative findings is age-dependent.
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One locus for autosomal dominant polycystic kidney disease, designated PKD1, has been localized to the short arm of chromosome 16.
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In most families . . .