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The Diagnosis for PKD

  The Diagnosis for PKD

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

  1. Family history of genetic disorders:

  

 

  95%ADPKD patients always have autosomal dominant disease characteristics. That is to say, every generation has this disease, and the incidence of men and women are equal. The patients are heterozygous, penetrance is almost 100%, but 5% to 10% ADPKD patients are without family history.

  2. Imaging examination:

  

 

  B type ultrasound is the most common method to diagnose ADPKD, it has the advantages of convenience, low price and non - invasive. B ultrasound diagnostic criteria for ADPKD: A positive family history, less than 30 years old, double renal cyst number should be more than 2; 30 ~59 years of age, the number of renal cysts per side must be greater than or equal to 2; 60 years of age or older, the number of renal cysts per side must be greater than or equal to 4. If there are other manifestations of ADPKD, such as liver cysts, the standard can be relaxed. CT and magnetic resonance imaging (MRI) in the diagnosis of ADPKD is very valuable, when the cyst occurred bleeding or infection, CT and MRI can provide useful information.

  3. Gene diagnosis:

  

 

  It mainly includes the genetic linkage analysis, the direct detection gene mutation and single nucleotide polymorphism detection and so on.

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