Estudio clínico, genético y molecular de la poliquistosis renal autosómica dominante tipos 1 y 2

Translated title of the contribution: Clinical, genetic and molecular studies on autosomal dominant polycystic kidney disease

Roser Torra, Cèlia Badenas, Alejandro Darnell, Carlos Nicolau, Victor Volpini, Luis Revert, Xavier P. Estivill

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

BACKGROUND: Two genes causing autosomal dominant polycystic kidney disease (ADPKD), PKD1 and PKD2, have been described. In the present work we study, by means of linkage analysis, the genetic heterogeneity in our population as well as the clinical diferences between PKD1 and PKD2. SUBJECTS AND METHODS: 316 subjects belonging to 49 unrelated ADPKD families have been studied by means of 3 microsatellites for PKD1 and 3 for PKD2 to differentiate if they have ADPKD type 1 or 2. The techniques used to analyze the microsatellites have been the chemiluminescence and the silver satining techniques. All the subjects underwent a complet physycal examination and a sonographic scan. Clinical and molecular results have been correlated. RESULTS: Genetic heterogeneity has been proved, with 85% of families linked to PKD1 and 15% to PKO2. The disease is more severe in PKD1, with an earlier age at diagnosis (27.4 vs. 41.4 years; p = 0.0002), a younger age at the oset of end stage renal disease (53.4 vs 72.7 years, p < 0.0001), an earlier age at diagnosis of hypertension (34.8 vs. 49.7 years; p = 0.001) and a higher prevalence of hypertension for all groups of age. In both forms of ADPKD there were families showing anticipation (8/44 for PKD1 and 2/5 for PKD2) but this was not a widespread phenomenon. Our data do not support the phenomenon of genetic imprinting for this disease. CONCLUSIONS: In the population of Catalonia, Spain, PKD1 accounts for 85% of families with autosomal dominant polycystic kidney disease and PKD2 accounts for the remaing 15%. PKD1 form is more severe than PKD2.

Original languageSpanish
Pages (from-to)481-487
Number of pages7
JournalMedicina Clinica
Volume110
Issue number13
Publication statusPublished - 18 Apr 1998
Externally publishedYes

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Autosomal Dominant Polycystic Kidney
Molecular Biology
Genetic Heterogeneity
Microsatellite Repeats
Hypertension
Genomic Imprinting
Inborn Genetic Diseases
Luminescence
Silver
Spain
Population
Chronic Kidney Failure
Age Groups
Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Torra, R., Badenas, C., Darnell, A., Nicolau, C., Volpini, V., Revert, L., & Estivill, X. P. (1998). Estudio clínico, genético y molecular de la poliquistosis renal autosómica dominante tipos 1 y 2. Medicina Clinica, 110(13), 481-487.

Estudio clínico, genético y molecular de la poliquistosis renal autosómica dominante tipos 1 y 2. / Torra, Roser; Badenas, Cèlia; Darnell, Alejandro; Nicolau, Carlos; Volpini, Victor; Revert, Luis; Estivill, Xavier P.

In: Medicina Clinica, Vol. 110, No. 13, 18.04.1998, p. 481-487.

Research output: Contribution to journalArticle

Torra, R, Badenas, C, Darnell, A, Nicolau, C, Volpini, V, Revert, L & Estivill, XP 1998, 'Estudio clínico, genético y molecular de la poliquistosis renal autosómica dominante tipos 1 y 2', Medicina Clinica, vol. 110, no. 13, pp. 481-487.
Torra R, Badenas C, Darnell A, Nicolau C, Volpini V, Revert L et al. Estudio clínico, genético y molecular de la poliquistosis renal autosómica dominante tipos 1 y 2. Medicina Clinica. 1998 Apr 18;110(13):481-487.
Torra, Roser ; Badenas, Cèlia ; Darnell, Alejandro ; Nicolau, Carlos ; Volpini, Victor ; Revert, Luis ; Estivill, Xavier P. / Estudio clínico, genético y molecular de la poliquistosis renal autosómica dominante tipos 1 y 2. In: Medicina Clinica. 1998 ; Vol. 110, No. 13. pp. 481-487.
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abstract = "BACKGROUND: Two genes causing autosomal dominant polycystic kidney disease (ADPKD), PKD1 and PKD2, have been described. In the present work we study, by means of linkage analysis, the genetic heterogeneity in our population as well as the clinical diferences between PKD1 and PKD2. SUBJECTS AND METHODS: 316 subjects belonging to 49 unrelated ADPKD families have been studied by means of 3 microsatellites for PKD1 and 3 for PKD2 to differentiate if they have ADPKD type 1 or 2. The techniques used to analyze the microsatellites have been the chemiluminescence and the silver satining techniques. All the subjects underwent a complet physycal examination and a sonographic scan. Clinical and molecular results have been correlated. RESULTS: Genetic heterogeneity has been proved, with 85{\%} of families linked to PKD1 and 15{\%} to PKO2. The disease is more severe in PKD1, with an earlier age at diagnosis (27.4 vs. 41.4 years; p = 0.0002), a younger age at the oset of end stage renal disease (53.4 vs 72.7 years, p < 0.0001), an earlier age at diagnosis of hypertension (34.8 vs. 49.7 years; p = 0.001) and a higher prevalence of hypertension for all groups of age. In both forms of ADPKD there were families showing anticipation (8/44 for PKD1 and 2/5 for PKD2) but this was not a widespread phenomenon. Our data do not support the phenomenon of genetic imprinting for this disease. CONCLUSIONS: In the population of Catalonia, Spain, PKD1 accounts for 85{\%} of families with autosomal dominant polycystic kidney disease and PKD2 accounts for the remaing 15{\%}. PKD1 form is more severe than PKD2.",
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