Autosomal dominant polycystisk nyresygdom

Lone Sunde; Marianne Schwartz; Bo Voldby; Søren Schwartz Sørensen; Svend Strandgaard

Autosomal dominant polycystisk nyresygdom

Lone Sunde, Marianne Schwartz, Bo Voldby, Søren Schwartz Sørensen, Svend Strandgaard^*

^*Corresponding author af dette arbejde

Institut for Klinisk Medicin - Hjerne- og Rygkirurgi

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avis › Review › Forskning › peer review

1 Citationer (Scopus)

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) affects 1 of 1,000 newborns and is estimated to be present in 3,000 to 4,000 people in Danmark, including about 350 in chronic dialysis or transplanted. ADPKD is caused by mutations in one of two genes, PKD1 and PKD2. Asymptomatic members of ADPKD families can be investigated for the disease by ultrasound scanning of the kidneys. A negative study is predictive only from the age of 30. Alternatively, a genetic analysis can be done as a part of genetic counseling. If a member of an ADPKD family does not want to be investigated, he or she should be advised to have his or her blood pressure measured regularly from the age of 30. Intracranial aneurysms with a risk of rupture are present in 10-15% of ADPKD patients. In families where there has been a case of aneurysm rupture, it is advised that adult patients be screened for aneurysms by MR angiography at approximately five-year intervals.

Bidragets oversatte titel	Autosomal dominant polycystic kidney disease
Originalsprog	Dansk
Tidsskrift	Ugeskrift for Læger
Vol/bind	166
Nummer	43
Sider (fra-til)	3807-3811
Antal sider	5
ISSN	0041-5782
Status	Udgivet - 18 okt. 2004

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Citationsformater

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abstract = "Autosomal dominant polycystic kidney disease (ADPKD) affects 1 of 1,000 newborns and is estimated to be present in 3,000 to 4,000 people in Danmark, including about 350 in chronic dialysis or transplanted. ADPKD is caused by mutations in one of two genes, PKD1 and PKD2. Asymptomatic members of ADPKD families can be investigated for the disease by ultrasound scanning of the kidneys. A negative study is predictive only from the age of 30. Alternatively, a genetic analysis can be done as a part of genetic counseling. If a member of an ADPKD family does not want to be investigated, he or she should be advised to have his or her blood pressure measured regularly from the age of 30. Intracranial aneurysms with a risk of rupture are present in 10-15% of ADPKD patients. In families where there has been a case of aneurysm rupture, it is advised that adult patients be screened for aneurysms by MR angiography at approximately five-year intervals.",

author = "Lone Sunde and Marianne Schwartz and Bo Voldby and S{\o}rensen, {S{\o}ren Schwartz} and Svend Strandgaard",

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TY - JOUR

T1 - Autosomal dominant polycystisk nyresygdom

AU - Sunde, Lone

AU - Schwartz, Marianne

AU - Voldby, Bo

AU - Sørensen, Søren Schwartz

AU - Strandgaard, Svend

PY - 2004/10/18

Y1 - 2004/10/18

N2 - Autosomal dominant polycystic kidney disease (ADPKD) affects 1 of 1,000 newborns and is estimated to be present in 3,000 to 4,000 people in Danmark, including about 350 in chronic dialysis or transplanted. ADPKD is caused by mutations in one of two genes, PKD1 and PKD2. Asymptomatic members of ADPKD families can be investigated for the disease by ultrasound scanning of the kidneys. A negative study is predictive only from the age of 30. Alternatively, a genetic analysis can be done as a part of genetic counseling. If a member of an ADPKD family does not want to be investigated, he or she should be advised to have his or her blood pressure measured regularly from the age of 30. Intracranial aneurysms with a risk of rupture are present in 10-15% of ADPKD patients. In families where there has been a case of aneurysm rupture, it is advised that adult patients be screened for aneurysms by MR angiography at approximately five-year intervals.

AB - Autosomal dominant polycystic kidney disease (ADPKD) affects 1 of 1,000 newborns and is estimated to be present in 3,000 to 4,000 people in Danmark, including about 350 in chronic dialysis or transplanted. ADPKD is caused by mutations in one of two genes, PKD1 and PKD2. Asymptomatic members of ADPKD families can be investigated for the disease by ultrasound scanning of the kidneys. A negative study is predictive only from the age of 30. Alternatively, a genetic analysis can be done as a part of genetic counseling. If a member of an ADPKD family does not want to be investigated, he or she should be advised to have his or her blood pressure measured regularly from the age of 30. Intracranial aneurysms with a risk of rupture are present in 10-15% of ADPKD patients. In families where there has been a case of aneurysm rupture, it is advised that adult patients be screened for aneurysms by MR angiography at approximately five-year intervals.

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M3 - Review

C2 - 15544110

AN - SCOPUS:7044241288

SN - 0041-5782

VL - 166

SP - 3807

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JO - Ugeskrift for Læger

JF - Ugeskrift for Læger

IS - 43

ER -

Autosomal dominant polycystisk nyresygdom

Abstract

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