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Autosomal dominant polycystisk nyresygdom

Signe Vinsand Naver1, Bjarne Ørskov1, Anja Møller Jensen2 & Martin Egfjord1 1) Nefrologisk Afdeling, Rigshospitalet 2) Nefrologisk Afdeling, Sjællands Universitetshospital, Roskilde Ugeskr Læger 2017;179:V12160881
Ugeskr Læger 2017;179:V12160881
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Autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disorder which causes end stage renal disease. In Denmark, estimated 5,000 patients are living with the disease. Most of the patients are in regular contact with physicians due to the progression of kidney failure causing hypertension as well as cyst infections, back pain, abdominal distension and other symptoms caused by the enlarged kidneys. In this article we describe the clinical presentation, the genetics, the pathophysiology and the current and future treatment modalities of the disease.
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