This document discusses a case of polycystic kidney disease (PKD). PKD is a common genetic disease where multiple cysts develop in the kidneys and sometimes in other organs like the liver and pancreas. There are two principal types - autosomal recessive and autosomal dominant. Autosomal dominant PKD accounts for 85% of cases and is caused by mutations in the PKD1 or PKD2 genes. Ultrasound and CT scans are used to diagnose and monitor PKD by detecting and counting renal cysts. This case report examines imaging findings from ultrasound and CT scans of 5 PKD patients which showed enlarged kidneys with multiple cysts of varying sizes in the kidneys as well as cysts in
This document discusses a case of polycystic kidney disease (PKD). PKD is a common genetic disease where multiple cysts develop in the kidneys and sometimes in other organs like the liver and pancreas. There are two principal types - autosomal recessive and autosomal dominant. Autosomal dominant PKD accounts for 85% of cases and is caused by mutations in the PKD1 or PKD2 genes. Ultrasound and CT scans are used to diagnose and monitor PKD by detecting and counting renal cysts. This case report examines imaging findings from ultrasound and CT scans of 5 PKD patients which showed enlarged kidneys with multiple cysts of varying sizes in the kidneys as well as cysts in
This document discusses a case of polycystic kidney disease (PKD). PKD is a common genetic disease where multiple cysts develop in the kidneys and sometimes in other organs like the liver and pancreas. There are two principal types - autosomal recessive and autosomal dominant. Autosomal dominant PKD accounts for 85% of cases and is caused by mutations in the PKD1 or PKD2 genes. Ultrasound and CT scans are used to diagnose and monitor PKD by detecting and counting renal cysts. This case report examines imaging findings from ultrasound and CT scans of 5 PKD patients which showed enlarged kidneys with multiple cysts of varying sizes in the kidneys as well as cysts in
This document discusses a case of polycystic kidney disease (PKD). PKD is a common genetic disease where multiple cysts develop in the kidneys and sometimes in other organs like the liver and pancreas. There are two principal types - autosomal recessive and autosomal dominant. Autosomal dominant PKD accounts for 85% of cases and is caused by mutations in the PKD1 or PKD2 genes. Ultrasound and CT scans are used to diagnose and monitor PKD by detecting and counting renal cysts. This case report examines imaging findings from ultrasound and CT scans of 5 PKD patients which showed enlarged kidneys with multiple cysts of varying sizes in the kidneys as well as cysts in
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.