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Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. Case report.
Turco, A E; Padovani, E M; Peissel, B; Chiaffoni, G P; Rossetti, S; Gammaro, L; Maschio, G; Pignatti, P F.
Afiliação
  • Turco AE; Institute of Genetics, University of Verona School of Medicine, Italy.
J Perinat Med ; 23(3): 205-12, 1995.
Article em En | MEDLINE | ID: mdl-8568612
Bilateral polycystic kidneys were detected by ultrasound at 23 weeks gestation in a male fetus. Bilateral renal cysts were subsequently also found in the asymptomatic propositus' mother and grandmother, suggesting the diagnosis of autosomal dominant polycystic kidney disease (ADPKD). The renal ultrasonograms showed cortical cysts with normal or decreased-sized kidneys. Renal function was normal. Seven available members of the family were genotyped for flanking DNA markers tightly linked to the PKD1 gene on chromosome 16p, and for a polymorphism close to a second putative disease gene (PKD2) on chromosome 2. The genetic linkage approach allowed us to detect with a high degree of accuracy the ADPKD1 at risk chromosome in the three patients, as well as in a 28-year-old unaffected female. This report illustrates the feasibility and the usefulness of recent molecular genetic strategies for diagnostic purposes in ADPKD, especially when clinical and radiological data are atypical. Furthermore, it also confirms that early or very early onset forms of the disease are not uncommon, and should be considered in the differential diagnosis of childhood cystic disease.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA / Rim Policístico Autossômico Dominante / Ligação Genética Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male / Newborn / Pregnancy País/Região como assunto: Europa Idioma: En Ano de publicação: 1995 Tipo de documento: Article
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA / Rim Policístico Autossômico Dominante / Ligação Genética Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male / Newborn / Pregnancy País/Região como assunto: Europa Idioma: En Ano de publicação: 1995 Tipo de documento: Article