The Diagnosis and Prognosis of Autosomal Dominant Polycystic Kidney Disease

AUTOSOMAL dominant polycystic kidney disease is responsible for 6 to 9 percent of cases of end-stage renal disease in North America 1 ' 2 and Europe. 3 About 1 in 1000 persons carries a mutant gene for this condition. 4 The disease can be diagnosed before symptoms develop by ultrasonographic im...

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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
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Abstract	AUTOSOMAL dominant polycystic kidney disease is responsible for 6 to 9 percent of cases of end-stage renal disease in North America 1 ' 2 and Europe. 3 About 1 in 1000 persons carries a mutant gene for this condition. 4 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. 5 One locus for autosomal dominant polycystic kidney disease, designated PKD1, has been localized to the short arm of chromosome 16. 6 7 8 In most families . . .
AbstractList	AUTOSOMAL dominant polycystic kidney disease is responsible for 6 to 9 percent of cases of end-stage renal disease in North America 1 ' 2 and Europe. 3 About 1 in 1000 persons carries a mutant gene for this condition. 4 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. 5 One locus for autosomal dominant polycystic kidney disease, designated PKD1, has been localized to the short arm of chromosome 16. 6 7 8 In most families . . . Autosomal dominant polycystic kidney disease is usually caused by a mutant gene at the PKD1 locus on the short arm of chromosome 16, but in about 4 percent of families with the disorder it is caused by unknown mutations elsewhere in the genome. The natural course of the disease in both genetic forms is not well characterized. We studied 17 families with autosomal dominant polycystic kidney disease to compare presymptomatic diagnosis by ultrasonography with diagnosis by genetic-linkage studies and to relate clinical variation of the disease to whether the PKD1 mutation was implicated. In 10 families the disorder was found to cosegregate with polymorphic DNA markers flanking the PKD1 locus, in 2 families it did not, and in 5 families linkage could not be determined. In the 10 families with the PKD1 mutation, 46 percent of the members less than 30 years old who had a 50 percent risk of inheriting a mutation had renal cysts, as compared with 11 percent of the members of the two families without linkage (P less than 0.001). In the PKD1 families, all 67 diagnoses made by ultrasonography were confirmed by determination of the genotype as inferred from linkage. Forty of 48 members (83 percent) less than 30 years old who inherited the PKD1 mutation had renal cysts. All 27 members 30 years old or older who inherited the mutation had renal cysts, suggesting that the probability of a false negative diagnosis did not exceed 0.13 in this age group (P less than 0.05). The mean (+/- SE) age at the onset of end-stage renal disease among members of the PKD1 families was 56.7 +/- 1.9 years, as compared with 69.4 +/- 1.7 years among members with cysts in the families without linkage (P = 0.0025). Hypertension and renal impairment were less frequent and occurred later in the families without the PKD1 mutation. At present, in most persons with a 50 percent risk of autosomal dominant polycystic kidney disease, imaging techniques are the only mode of reaching a diagnosis before symptoms appear. In such persons a negative ultrasonographic study during early adult life indicates that the likelihood of inheriting a PKD1 mutation is small. In the few who inherit a non-PKD1 mutation for polycystic kidney disease, renal failure is likely to occur relatively late in life. Autosomal dominant polycystic kidney disease is usually caused by a mutant gene at the PKD1 locus on the short arm of chromosome 16, but in about 4 percent of families with the disorder it is caused by unknown mutations elsewhere in the genome. The natural course of the disease in both genetic forms is not well characterized. BACKGROUNDAutosomal dominant polycystic kidney disease is usually caused by a mutant gene at the PKD1 locus on the short arm of chromosome 16, but in about 4 percent of families with the disorder it is caused by unknown mutations elsewhere in the genome. The natural course of the disease in both genetic forms is not well characterized.METHODSWe studied 17 families with autosomal dominant polycystic kidney disease to compare presymptomatic diagnosis by ultrasonography with diagnosis by genetic-linkage studies and to relate clinical variation of the disease to whether the PKD1 mutation was implicated.RESULTSIn 10 families the disorder was found to cosegregate with polymorphic DNA markers flanking the PKD1 locus, in 2 families it did not, and in 5 families linkage could not be determined. In the 10 families with the PKD1 mutation, 46 percent of the members less than 30 years old who had a 50 percent risk of inheriting a mutation had renal cysts, as compared with 11 percent of the members of the two families without linkage (P less than 0.001). In the PKD1 families, all 67 diagnoses made by ultrasonography were confirmed by determination of the genotype as inferred from linkage. Forty of 48 members (83 percent) less than 30 years old who inherited the PKD1 mutation had renal cysts. All 27 members 30 years old or older who inherited the mutation had renal cysts, suggesting that the probability of a false negative diagnosis did not exceed 0.13 in this age group (P less than 0.05). The mean (+/- SE) age at the onset of end-stage renal disease among members of the PKD1 families was 56.7 +/- 1.9 years, as compared with 69.4 +/- 1.7 years among members with cysts in the families without linkage (P = 0.0025). Hypertension and renal impairment were less frequent and occurred later in the families without the PKD1 mutation.CONCLUSIONSAt present, in most persons with a 50 percent risk of autosomal dominant polycystic kidney disease, imaging techniques are the only mode of reaching a diagnosis before symptoms appear. In such persons a negative ultrasonographic study during early adult life indicates that the likelihood of inheriting a PKD1 mutation is small. In the few who inherit a non-PKD1 mutation for polycystic kidney disease, renal failure is likely to occur relatively late in life. Abstract Background. Autosomal dominant polycystic kidney disease is usually caused by a mutant gene at the PKD1 locus on the short arm of chromosome 16, but in about 4 percent of families with the disorder it is caused by unknown mutations elsewhere in the genome. The natural course of the disease in both genetic forms is not well characterized. Methods. We studied 17 families with autosomal dominant polycystic kidney disease to compare presymptomatic diagnosis by ultrasonography with diagnosis by genetic-linkage studies and to relate clinical variation of the disease to whether the PKD1 mutation was implicated. Results. In 10 families the disorder was found to cosegregate with polymorphic DNA markers flanking the PKD1 locus, in 2 families it did not, and in 5 families linkage could not be determined. In the 10 families with the PKD1 mutation, 46 percent of the members less than 30 years old who had a 50 percent risk of inheriting a mutation had renal cysts, as compared with 11 percent of the members of the two families without linkage (P<0.001). In the PKD1 families, all 67 diagnoses made by ultrasonography were confirmed by determination of the genotype as inferred from linkage. Forty of 48 members (83 percent) less than 30 years old who inherited the PKD1 mutation had renal cysts. All 27 members 30 years old or older who inherited the mutation had renal cysts, suggesting that the probability of a false negative diagnosis did not exceed 0.13 in this age group (P<0.05). The mean (±SE) age at the onset of end-stage renal disease among members of the PKD1 families was 56.7±1.9 years, as compared with 69.4±1.7 years among members with cysts in the families without linkage (P = 0.0025). Hypertension and renal impairment were less frequent and occurred later in the families without the PKD1 mutation. Conclusions. At present, in most persons with a 50 percent risk of autosomal dominant polycystic kidney disease, imaging techniques are the only mode of reaching a diagnosis before symptoms appear. In such persons a negative ultrasonographic study during early adult life indicates that the likelihood of inheriting a PKD1 mutation is small. In the few who inherit a non-PKD1 mutation for polycystic kidney disease, renal failure is likely to occur relatively late in life. (N Engl J Med 1990; 323:1085-90.)
Author	Gault, Mathew H Cramer, Benvon C Parfrey, Patrick S Bear, John C Churchill, David N Singh, Manoj Reeders, Stephen T Morgan, Janet Somlo, Stefan McManamon, Patrick J Hewitt, Richard
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ContentType	Journal Article
Copyright	1993 INIST-CNRS Copyright Massachusetts Medical Society Oct 18, 1990 Copyright Massachusetts Medical Society, Publishing Division Oct 18, 1990
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Snippet	AUTOSOMAL dominant polycystic kidney disease is responsible for 6 to 9 percent of cases of end-stage renal disease in North America 1 ' 2 and Europe. 3 About 1... Autosomal dominant polycystic kidney disease is usually caused by a mutant gene at the PKD1 locus on the short arm of chromosome 16, but in about 4 percent of... Abstract Background. Autosomal dominant polycystic kidney disease is usually caused by a mutant gene at the PKD1 locus on the short arm of chromosome 16, but... Abstract Background . Autosomal dominant polycystic kidney disease is usually caused by a mutant gene at the PKD1 locus on the short arm of chromosome 16, but... BACKGROUNDAutosomal dominant polycystic kidney disease is usually caused by a mutant gene at the PKD1 locus on the short arm of chromosome 16, but in about 4...
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SubjectTerms	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
Title	The Diagnosis and Prognosis of Autosomal Dominant Polycystic Kidney Disease
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