Ultrasonography and nephrotomography in the presymptomatic diagnosis of dominantly inherited (adult-onset) polycystic kidney disease.

Radiology ◽  
1980 ◽  
Vol 135 (2) ◽  
pp. 423-427 ◽  
Author(s):  
A T Rosenfield ◽  
M H Lipson ◽  
B Wolf ◽  
K J Taylor ◽  
N S Rosenfield ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Adult Onset ◽  
Polycystic Kidney ◽  
Presymptomatic Diagnosis

A study of genetic linkage heterogeneity in 35 adult-onset polycystic kidney disease families

1993 ◽  
Vol 90 (5) ◽  
pp. 569-571 ◽  
Author(s):  
Alan F. Wright ◽  
Peter W. Teague ◽  
Susan E. Pound ◽  
Patricia M. Pignatelli ◽  
Anne M. Macnicol ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Genetic Linkage ◽  
Adult Onset ◽  
Polycystic Kidney

scholarly journals Cell-Autonomous Hedgehog Signaling Is Not Required for Cyst Formation in Autosomal Dominant Polycystic Kidney Disease

2019 ◽  
Vol 30 (11) ◽  
pp. 2103-2111 ◽  
Author(s):  
Ming Ma ◽  
Emilie Legué ◽  
Xin Tian ◽  
Stefan Somlo ◽  
Karel F. Liem
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Mouse Models ◽  
Hedgehog Signaling ◽  
Autosomal Dominant ◽  
Cyst Formation ◽  
Hedgehog Pathway ◽  
Adult Onset ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

BackgroundPKD1 or PKD2, the two main causal genes for autosomal dominant polycystic kidney disease (ADPKD), encode the multipass transmembrane proteins polycystin-1 (PC1) and polycystin-2 (PC2), respectively. Polycystins localize to the primary cilium, an organelle essential for cell signaling, including signal transduction of the Hedgehog pathway. Mutations in ciliary genes that build and maintain the cilium also cause renal cystic disease through unknown pathways. Although recent studies have found alterations in Hedgehog signaling in ADPKD-related models and tissues, the relationship between Hedgehog and polycystic kidney disease is not known.MethodsTo examine the potential role of cell-autonomous Hedgehog signaling in regulating kidney cyst formation in vivo in both early- and adult-onset mouse models of ADPKD, we used conditional inactivation of Pkd1 combined with conditional modulation of Hedgehog signaling components in renal epithelial cells, where mutations in Pkd1 initiate cyst formation. After increasing or decreasing levels of Hedgehog signaling in cells that underwent inactivation of Pkd1, we evaluated the effects of these genetic manipulations on quantitative parameters of polycystic kidney disease severity.ResultsWe found that in Pkd1 conditional mutant mouse kidneys, neither downregulation nor activation of the Hedgehog pathway in epithelial cells along the nephron significantly influenced the severity of the polycystic kidney phenotype in mouse models of developmental or adult-onset of ADPKD.ConclusionsThese data suggest that loss of Pkd1 function results in kidney cysts through pathways that are not affected by the activity of the Hedgehog pathway.

scholarly journals Role of calcium in adult onset polycystic kidney disease

2019 ◽  
Vol 53 ◽  
pp. 140-150 ◽  
Author(s):  
Murali K. Yanda ◽  
Qiangni Liu ◽  
Valeriu Cebotaru ◽  
William B. Guggino ◽  
Liudmila Cebotaru
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Adult Onset ◽  
Polycystic Kidney

scholarly journals Evidence for linkage disequilibrium between D16S94 and the adult onset polycystic kidney disease (PKD1) gene.

1992 ◽  
Vol 29 (4) ◽  
pp. 247-248 ◽  
Author(s):  
S E Pound ◽  
A D Carothers ◽  
P M Pignatelli ◽  
A M Macnicol ◽  
M L Watson ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Adult Onset ◽  
Polycystic Kidney ◽  
Pkd1 Gene

Presymptomatic testing for adult onset polycystic kidney disease in at-risk kidney transplant donors

1991 ◽  
Vol 40 (4) ◽  
pp. 425-428 ◽  
Author(s):  
Vickie L. Hannig ◽  
Jeanne R. Hopkins ◽  
H. Keith Johnson ◽  
John A. Phillips ◽  
Stephen T. Reeders
Keyword(s):  
At Risk ◽  
Kidney Disease ◽  
Kidney Transplant ◽  
Polycystic Kidney Disease ◽  
Adult Onset ◽  
Polycystic Kidney ◽  
Presymptomatic Testing

scholarly journals Prognosis of adult onset polycystic kidney disease re-evaluated

1984 ◽  
Vol 26 (2) ◽  
pp. 190-193 ◽  
Author(s):  
David N. Churchill ◽  
John C. Bear ◽  
Janet Morgan ◽  
Ronald H. Payne ◽  
Patrick J. McManamon ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Adult Onset ◽  
Polycystic Kidney

scholarly journals Preimplantation Genetic Testing for Monogenic Kidney Disease

2020 ◽  
Vol 15 (9) ◽  
pp. 1279-1286 ◽  
Author(s):  
Rozemarijn Snoek ◽  
Marijn F. Stokman ◽  
Klaske D. Lichtenbelt ◽  
Theodora C. van Tilborg ◽  
Cindy E. Simcox ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Kidney Diseases ◽  
Medical Center ◽  
Live Birth Rate ◽  
Genetic Diagnostics ◽  
Adult Onset ◽  
Polycystic Kidney ◽  
Preimplantation Genetic Testing

Background and objectivesA genetic cause can be identified for an increasing number of pediatric and adult-onset kidney diseases. Preimplantation genetic testing (formerly known as preimplantation genetic diagnostics) is a reproductive technology that helps prospective parents to prevent passing on (a) disease-causing mutation(s) to their offspring. Here, we provide a clinical overview of 25 years of preimplantation genetic testing for monogenic kidney disease in The Netherlands.Design, setting, participants, & measurements This is a retrospective cohort study of couples counseled on preimplantation genetic testing for monogenic kidney disease in the national preimplantation genetic testing expert center (Maastricht University Medical Center+) from January 1995 to June 2019. Statistical analysis was performed through chi-squared tests.ResultsIn total, 98 couples were counseled regarding preimplantation genetic testing, of whom 53% opted for preimplantation genetic testing. The most frequent indications for referral were autosomal dominant polycystic kidney disease (38%), Alport syndrome (26%), and autosomal recessive polycystic kidney disease (9%). Of couples with at least one preimplantation genetic testing cycle with oocyte retrieval, 65% experienced one or more live births of an unaffected child. Of couples counseled, 38% declined preimplantation genetic testing for various personal and technical reasons.ConclusionsReferrals, including for adult-onset disease, have increased steadily over the past decade. Though some couples decline preimplantation genetic testing, in the couples who proceed with at least one preimplantation genetic testing cycle, almost two thirds experienced at least one live birth rate.

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