Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. Case report

Alberto E. Turco, Ezio M. Padovani, Bernard Peissel, Gian Paolo Chiaffoni, Sandro Rossetti, Linda Gammaro, Giuseppe Maschio, Pier Franco Pignatti

Research output: Contribution to journalArticle

Abstract

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 ADPKD 1 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.

Original languageEnglish
Pages (from-to)205-212
Number of pages8
JournalJournal of Perinatal Medicine
Volume23
Issue number3
DOIs
Publication statusPublished - 1995

Fingerprint

Autosomal Dominant Polycystic Kidney
Newborn Infant
Kidney
DNA
Genes
Cysts
Chromosomes
Polycystic Kidney Diseases
Genetic Linkage
Chromosomes, Human, Pair 2
Genetic Markers
Molecular Biology
Fetus
Differential Diagnosis
Mothers
Pregnancy

Keywords

  • ADPKD
  • analyse de liaison
  • ARPKD
  • autosomal dominant polycystic kidney disease
  • autosomal recessive polycystic kidney disease
  • Autosomal-dominante polycystische Nierenerkrankung (ADPKD)
  • autosomal-rezessive polycystische Nierenerkrankung (ARPKD)
  • diagnostic moléculaire
  • DNA polymorphisms
  • DNA-Polymorphismus
  • Kopplungsanalyse
  • linkage analysis
  • molecular diagnosis
  • Molekulargenetik und Diagnostik
  • PCR
  • polykystose rénale autosomique dominante
  • polykystose rénale autosomique récessive
  • polymerase chain reaction
  • Polymerase-Ketten-Reaktion (PCR)
  • polymorphisme de la DNA
  • réaction en chaîne de polymérase

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Pediatrics, Perinatology, and Child Health

Cite this

Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. Case report. / Turco, Alberto E.; Padovani, Ezio M.; Peissel, Bernard; Chiaffoni, Gian Paolo; Rossetti, Sandro; Gammaro, Linda; Maschio, Giuseppe; Pignatti, Pier Franco.

In: Journal of Perinatal Medicine, Vol. 23, No. 3, 1995, p. 205-212.

Research output: Contribution to journalArticle

Turco, Alberto E. ; Padovani, Ezio M. ; Peissel, Bernard ; Chiaffoni, Gian Paolo ; Rossetti, Sandro ; Gammaro, Linda ; Maschio, Giuseppe ; Pignatti, Pier Franco. / Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. Case report. In: Journal of Perinatal Medicine. 1995 ; Vol. 23, No. 3. pp. 205-212.
@article{3b11f45b451e47549e87ec9c70c0eff3,
title = "Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. Case report",
abstract = "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 ADPKD 1 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.",
keywords = "ADPKD, analyse de liaison, ARPKD, autosomal dominant polycystic kidney disease, autosomal recessive polycystic kidney disease, Autosomal-dominante polycystische Nierenerkrankung (ADPKD), autosomal-rezessive polycystische Nierenerkrankung (ARPKD), diagnostic mol{\'e}culaire, DNA polymorphisms, DNA-Polymorphismus, Kopplungsanalyse, linkage analysis, molecular diagnosis, Molekulargenetik und Diagnostik, PCR, polykystose r{\'e}nale autosomique dominante, polykystose r{\'e}nale autosomique r{\'e}cessive, polymerase chain reaction, Polymerase-Ketten-Reaktion (PCR), polymorphisme de la DNA, r{\'e}action en cha{\^i}ne de polym{\'e}rase",
author = "Turco, {Alberto E.} and Padovani, {Ezio M.} and Bernard Peissel and Chiaffoni, {Gian Paolo} and Sandro Rossetti and Linda Gammaro and Giuseppe Maschio and Pignatti, {Pier Franco}",
year = "1995",
doi = "10.1515/jpme.1995.23.3.205",
language = "English",
volume = "23",
pages = "205--212",
journal = "Journal of Perinatal Medicine",
issn = "0300-5577",
publisher = "Walter de Gruyter GmbH & Co. KG",
number = "3",

}

TY - JOUR

T1 - Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. Case report

AU - Turco, Alberto E.

AU - Padovani, Ezio M.

AU - Peissel, Bernard

AU - Chiaffoni, Gian Paolo

AU - Rossetti, Sandro

AU - Gammaro, Linda

AU - Maschio, Giuseppe

AU - Pignatti, Pier Franco

PY - 1995

Y1 - 1995

N2 - 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 ADPKD 1 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.

AB - 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 ADPKD 1 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.

KW - ADPKD

KW - analyse de liaison

KW - ARPKD

KW - autosomal dominant polycystic kidney disease

KW - autosomal recessive polycystic kidney disease

KW - Autosomal-dominante polycystische Nierenerkrankung (ADPKD)

KW - autosomal-rezessive polycystische Nierenerkrankung (ARPKD)

KW - diagnostic moléculaire

KW - DNA polymorphisms

KW - DNA-Polymorphismus

KW - Kopplungsanalyse

KW - linkage analysis

KW - molecular diagnosis

KW - Molekulargenetik und Diagnostik

KW - PCR

KW - polykystose rénale autosomique dominante

KW - polykystose rénale autosomique récessive

KW - polymerase chain reaction

KW - Polymerase-Ketten-Reaktion (PCR)

KW - polymorphisme de la DNA

KW - réaction en chaîne de polymérase

UR - http://www.scopus.com/inward/record.url?scp=0029120616&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0029120616&partnerID=8YFLogxK

U2 - 10.1515/jpme.1995.23.3.205

DO - 10.1515/jpme.1995.23.3.205

M3 - Article

C2 - 8568612

AN - SCOPUS:0029120616

VL - 23

SP - 205

EP - 212

JO - Journal of Perinatal Medicine

JF - Journal of Perinatal Medicine

SN - 0300-5577

IS - 3

ER -