Autosomal Dominant Polycystic Kidney Disease: Early Diagnosis and Data for Genetic Counselling

Milutinovic, Jovan; Phillips, LeonA.; Bryant, Jean I.; Fialkow, Philip J.; Agoda, LawrenceY.; Denney, John D.; Rudd, ThomasG.

doi:10.1016/s0140-6736(80)91674-8

Cited by 45 publications

(11 citation statements)

References 17 publications

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“…Primary renal anomalies may arise as a manifestation of a pleiotropic gene, an error in a complex developmental field or a generalized disorder affecting numerous other structures [7][8][9][10][11]. UTA are observed as isolated cases, in association with other defects, or as an integral part of a wide number of syndromes or chromosomopathies [12][13][14][15][16].…”

Section: Introductionmentioning

confidence: 99%

Urinary tract abnormalities (UTA) and associated malformations: Data of the Emilia-Romagna Registry

et al. 1996

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An epidemiological study on the urinary tract anomalies (UTA) associated with other congenital malformations or syndromes ascertained by the Emilia-Romagna Registry on Congenital Malformations (IMER) among 209,882 consecutive births monitored during the period 1981-1990 is presented. UTA were ascertained in 349 infants for a rate at birth of 16.6 per 10,000 total births, or one case for every 600 births. The occurrence rate of UTA increased significantly during the ten years of monitoring passing from 6.1 per 10,000 in 1981-1982 to 25.1 in 1989-1990 (r = 0.85; p < 0.001). This increase is in connection with a progressively higher notification of isolated cases of UTA, directly related to the impact of the prenatal diagnosis. Among the 349 cases, 106 (30.4%) were associated with other conditions, including 18 who had chromosomal aberrations (ChrA). The incidence in the total number of the ChrA registered was 43.6 per 1,000. Genetic syndromes (GS) in 33 cases with a specific rate of 150 per 1,000, and 55 cases of multiples with a specific rate of 205.2 per 1,000. In multiples we observed some preferential associations of UTA with intestinal defects and severe ear defects (p < 0.001) and for Central Nervous System and heart defects (p < 0.05). UTA are often associated with other extrarenal defects and sometimes are a component of syndromes that are difficult to identify and for which genetic implications are great and genetic counselling necessary. Pediatricians need to be aware of the possible involvement of the kidney in specific and rare syndromes, and pediatric nephrologists must recognize the association of renal diseases with abnormalities in other physiological systems.

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Section: Introductionmentioning

confidence: 99%

Urinary tract abnormalities (UTA) and associated malformations: Data of the Emilia-Romagna Registry

et al. 1996

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“…We have also found two at-risk persons under 20 years of age with cysts in only one kidney (non-published results) in a large Algerian family, with ADPKD linked to PKD 1. Milutinovic et al (1980) found that, in a small proportion of cases, cysts were detectable only in one kidney by ultrasonogrpahy or radionuclide imaging and, in three cases out of five, cysts in the other kidney were seen by arteriography. Nuclear magnetic resonance also revealed cysts in the other kidney.…”

Section: Discussionmentioning

confidence: 91%

“…The diagnostic criteria rely upon the presence of at least one cyst in each kidney and more than one in one kidney in at-risk members of ADPKD families (Bear et al 1984). Milutinovic et al (1980) could achieve an earlier diagnosis by using radionuclide imaging and excretory urography. However, ultrasonography remains the most 222 widely used diagnostic test for ADPKD, especially in systematic family screening; almost all DNA studies use Bears's data for linkage computations.…”

Section: Introductionmentioning

confidence: 99%

Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression

et al. 1990

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We describe a large three generation family with autosomal dominant polycystic kidney disease (PKD). Ultrasonographic screening of 60 family members revealed 20 individuals, whose age ranged from ten to eighty years, with one or several cysts in only one kidney and 7 individuals with cysts in both kidneys. Transmission of unilateral cysts seems to be autosomal dominant, although there are some generation gaps. Linkage studies with several markers of the PKD1 locus on the short arm of chromosome 16 showed no linkage with the disease. Lod scores for linkage between the disease and the most informative marker 3'HVR were computed using different penetrance models and several hypotheses concerning the clinical status of individuals with unilateral renal cysts. Results varied from Z = 1.31 to Z = -21.47 (theta = 0). Smith's test of heterogeneity gave a conditional probability of non-linkage between 0.9 and 1.0. We conclude that this family presents a form of autosomal dominant PKD with reduced penetrance and no linkage to the PKD1 locus on the short arm of chromosome 16. Other hypotheses, such as the existence of two distinct hereditary diseases in this large family, or neomutation in one branch of the family associated with a high frequency of isolated renal cysts, are also considered.

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“…Therefore, gen etic counseling is very important in detecting carriers of the disorder at an early stage. Several studies have been performed to evaluate APKD patients' knowledge of their disease, and most of them found that there had been insufficient genetic counseling in these families [3,4]. This study was designed to assess APKD patients in Israel regarding their knowledge of the hereditary nature of their disease, and whether they had received adequate counseling.…”

Section: Introductionmentioning

confidence: 99%

Genetic Counseling in Adult Polycystic Kidney Disease in Israel

Weinstein¹,

Zevin²,

Gafter³

et al. 1990

Nephron

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45 patients with autosomal dominant polycystic kidney disease (APKD) were interviewed with regard to their knowledge about the familial nature of their disease. 22 patients (mean age up to 57 years) were treated with chronic dialysis, and 23 (mean age up to 49 years) had either normal serum creatinine or chronic renal failure without dialysis (serum creatinine range 1–7 mg/dl). Most of the patients knew the name and prognosis of their disease, but only 9% of them knew that half of their children might be at risk. Only 38% of the patients wanted to know that they had APKD before they had children and only 18% would not have had children if they had known beforehand that they were ill. 45% of the patients on dialysis and 78% of the patients not on dialysis would have had children in spite of their disease. The difference between the two groups is significant (p = 0.006). There was a correlation between the duration of follow-up of the patients and their children’s knowledge (r = 0.38; p = 0.017). Genetic counseling in Israel is similar to that in other countries, but there is a large difference between the patients in Israel and others regarding their attitude towards childbearing. The finding of a linkage between a polymorphic region on chromosome 16 (3’ HVR) to the locus of APKD makes a prenatal diagnosis of the disease possible. This could be a valuable tool for efficient counseling in the future.

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Autosomal Dominant Polycystic Kidney Disease: Early Diagnosis and Data for Genetic Counselling

Cited by 45 publications

References 17 publications

Urinary tract abnormalities (UTA) and associated malformations: Data of the Emilia-Romagna Registry

Urinary tract abnormalities (UTA) and associated malformations: Data of the Emilia-Romagna Registry

Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression

Genetic Counseling in Adult Polycystic Kidney Disease in Israel

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