CASE OF POLYCYSTIC KIDNEY DISEASE

By Dr Vichi Goel

Under guidance of: DR. CHANDRA RAYCHAUDHARI

Institute: S.B.K.S MIRC, Sumandeep Vidyapeeth,Pipariya,Vadodara.

 INTRODUCTION
PKD is a common and often lethal multiorgan disease in which multiple cysts develop in bilateral
kidneys and sometimes in liver(50%),pancreas,spleen,lungs. 15% cases may have associated berry
aneurysm and abdominal aortic aneurysm. It has 2 principal types- 1.autosomal recessive 2.autosomal
dominant. In autosomal recessive polycystic disease of the kidneys (ARPCK) the renal parenchyma is
replaced by numerous tiny (1–8 mm) cysts. It has been referred to as infantile PCK but there are four
subtypes (perinatal, neonatal, infantile and juvenile), so ARPCK is the preferred term. Most present in
the neonatal period with oligohydramnios and Potter’s syndrome, with early death from respiratory
failure.In autosomal dominant, there are three genetic mutations in the PKD-1, PKD-2 and PKD-3 gene
with similar phenotypical presentations. Gene PKD-1 is located on chromosome 16 and codes for a
protein involved in regulation of cell cycle and intracellular calcium transport in epithelial cells, and is
responsible for 85% of the cases of ADPKD. A group of voltage – linked channels are coded for by PKD-
2 on chromosome 4. PKD recently appeared in research papers as a postulated 3rd gene. Approximately
50% of people with this disease will develop end stage kidney disease and require dialysis or kidney
transplantation. Progresssion to end stage kidney disease usually happens in the 4 th to 6th decades of
life. Autosomal dominant polycystic kidney disease occurs world wide and affects about 1 in 400 to 1 in
1000 people.
 Ravine ultrasonographic criteria for
diagnosing ADPKD

Age Positive family history Negative family history

< 30 years Two cysts bilaterally(or Five cysts bilaterally

unilaterally)

30-60 years Four cysts bilaterally Five cysts bilaterally

> 60 years Eight cysts bilaterally Eight cysts bilaterally

 AIMS AND OBJECTIVES
•Describe the imaging features of polycystic
kidney disease
•Discuss the role of CECT as an adjunct to
ultrasonography in evaluation of polycystic
kidney disease
 METHODS
•Study design : Cross-sectional Observational study.
•Source of data : Patients referred to the department of
radiodiagnosis of Dhiraj General Hospital and found to
have polycystic kidney disease
•Sample size: 5 patients were included in the study.
 CASE HISTORY

Clinical manifestations of ADPKD in the

symptomatic patients were hypertension, a history
of back and abdominal pain , symptoms consistent
with UTI , hematuria. One of the patients presented
with the manifestations of end stage renal failure.
 RESULTS
USG
Ultrasound shows bilateral grossly enlarged kidneys with irregular margins.Right kidney measures 18x 11
cms and left kidney measures 19x 12 cms.Both kidneys show multiple asymmetric cysts of variable sizes
largest being 5 cm in the right kidney and 4 cm in left kidney.
Liver and pancreas shows multiple cysts.
 CECT whole abdomen
CECT whole abdomen shows bilateral enlarged kidneys due to multiple cysts of variable
size and shape. Liver also appears enlarged with multiple cysts of variable size. Few cysts
also seen in pancreas. Cystic mass with septation seen in right adenexa measuring 46 X
33mm inseparable from right ovary.
 CONCLUSION
Autosomal dominant polycystic kidney disease is characterized by development of
renal cysts with increasing age, leading to distortion of normal kidney architecture
and ultimately, end stage renal disease in majority of patients.Hence prompt diagnosis
is most important.
Imaging techniques are used not only for diagnosing the disease and its
complications, but also for assessing the disease progression. The assessment of
disease progression requires determination of the number and size of cysts as well as
the size of kidneys. Although ultrasonography is the method of choice in ADPKD
diagnosis, CT scan is more useful in assessing the disease progression. Limitations
of ultrasonography are associated, among other factors, with its dependence on
methodology and operator reliability. In addition, ultrasound scanning is ineffective in
the assessment of small cysts, smaller than 1 cm in size.  
 
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