Autosomal dominant polycystisk nyresygdom. Forslag til retningslinjer for patienter og disses slaegtninge
Engelsk titel: Autosomal dominant polycystic kidney disease. Proposal for guidelines for patients and their relatives
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Författare:
Anonymous
Email: svst@herlevhosp.kbhamt.dk
Språk: Dan
Antal referenser: 17
Dokumenttyp:
Översikt
UI-nummer: 04101349
Sammanfattning
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.