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Diagnosis of polycystic kidney disease

  Diagnosis of polycystic kidney disease

  ADPKD diagnosis is mainly based on family genetic history, imaging and genetic diagnosis.

  (1) family genetic history 95% ADPKD patients with autosomal dominant genetic characteristics, that is, generation of disease, the incidence of men and women are equal, patients with heterozygous, the rate of almost 100%, but 5% to 10% of ADPKD patients No family genetic history.

  (B) imaging examination B-type ultrasound is the most commonly used method of diagnosis of ADPKD, with convenient, inexpensive and non-invasive and so on. B-type ultrasound diagnosis of ADPKD standard: a positive family history, less than 30 years old, the number of kidney cysts to be ≥ 2; 30 years old to 59 years old, the number of renal cysts per side to be ≥ 2; age ≥ 60 years old, Need to be ≥ 4. If ADPKD other performance, such as liver cysts, the standard may be appropriate to relax. CT and magnetic resonance imaging (MRI) diagnosis of ADPKD is valuable, when the cyst bleeding or infection, CT and MRI can provide useful information.

  (C) genetic diagnosis of gene linkage analysis, direct detection of gene mutations and single nucleotide polymorphisms such as detection methods.


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