Presently, Adult PKD is mostly diagnosed by clinical symptoms and Imaging
Examination. In recent years, with the development of molecular genetic
technology, gene can be taken as a method to diagnose Adult PKD.
Clinical diagnosis: though there is not a common view on clinical diagnosis
of Adult PKD, primary clinical diagnosis standard can be listed as follow:
patients usually have clinical symptoms when they get around 40 years old.
Clinical symptoms of swelling pain on waist and up back, Hypertension,
Haematuria, abdominal masses, urinary tract infection and renal colic,
complicated with urinary tract stone as well as Polycystic liver, Polycystic
spleen and intracranial aneurysm can appear. Appearance of clinical symptoms
means that cysts has already damaged renal parenchyma seriously. With time going
on, this damage will be aggravated. Early clinical diagnosis always depends on
familial history and imaging examination.
Imaging examination is the main method to diagnose Adult PKD.
Firstly, Ultrasonic Examination: ultrasonic examination is taken as the first
choice to diagnose ADPKD, because it has a high sensitivity with no
radioactivity and no trauma and it is also low-cost and convenient. Besides,
ultrasonic examination is also used as an important method to make an prenatal
diagnosis and to check the condition of patients' lineal consanguinity. Through
Type-B ultrasonic examination, bilateral kidneys enlargement and irregular
kidney shape can be found. Besides, round or oval cysts with various sizes can
be found in kidneys, spreading the whole kidney. Cysts lose their smooth shape
due to pressure to each other caused by each cyst. some patients may also be
found Polycystic Liver or Polycystic Spleen through examination.
Secondly, CT : this is also an important method to diagnose ADPKD. Small
cysts with diameter of 0.3cm to 0.5 cm can be found in bilateral kidneys. It has
a significant role in making an early diagnosis of ADPKD. However, CT has
radioactivity, so patients who suffer from early stage of PKD are not suggested
to take this examination.
Thirdly, Other imaging examination: KUB and IVU can show enlarged kidney
shadow, with irregular shape. Renal calices and renal pelvis can be changed
normal shape and stretched as well as removed. Besides, cystoscopic urography
and renoarteriography can also be used to diagnose ADPKD.
Gene diagnosis method: with continuous orientation and clone on gene of PKD
patients, it is more possible to make an exact gene diagnosis of PKD and gene
treatment of PKD. However, gene treatment is still in a start-up stage.
Presently, there are two kinds of PKD diagnosis methods by gene: analysis on
gene mutation and analysis on gene linkage.
