Congenital conditions and tumors of the Kidney Flashcards
What is a congenital malformation of the kidney which is an autosomal dominant disease? What is autosomal recessive?
Polycystic kidney disease
Infantile polycystic kidneys
What gene is mutated on about 85% of people with Autosomal Dominant Polycystic kidney Disease (ADPKD)? On which chromosome?
PKD1 gene on chromosome 16
What gene is mutated on about 15% of people with Autosomal Dominant Polycystic kidney Disease (ADPKD)? On which chromosome?
PKD2 gene on chromosome 4
What are some signs and symptoms of ADPKD?
hematuria
proteinuria
polyuria
flank pain
How many patients have a berry aneurysm with ADPKD?
1 in 6 patients
Where is Medullary fibroma located on the kidney?
mid portion of the medullary pyramids
What are congenital benign neoplasms or hamartomas usually found in the first 3 months of life?
Mesoblastic nephromas
What is the most common malignant tumor of the kidney?
renal cell carcinoma (hypernephroma)
How much does family history increase the risk of acquiring renal cell carcinoma?
4-5x increased risk
What are the 3 most common forms of renal cell carcinoma?
Clear cell carcinoma
Papillary renal cell carcinoma
Chromophobe renal carcinoma
What is the most common type of renal cell carcinoma?
Clear cell carcinoma
What disease is associated with clear cell carcinoma?
Von Hippel-Lindau disease
What kind of cells are associated with Clear cell carcinoma?
Granular cells present with small, round, regular nuclei enclosed within pink granulars
What contains tumor cells on fibro vascular stalks which will lead to the papillary formation and account for 10-15% of renal cell carcinomas?
Papillary renal cell carcinoma
What has a mixture of acidophilic granular cells and the nuclei are surrounded by halos of cleared cytoplasm?
Chromophobe renal carcinoma
What system is used to grade the severity of renal cell carcinoma?
the Fuhrman system
Grade 1 of Renal cell carcinoma
Nuclei round, uniform
nucleoli inconspicuous or absent
Grade 2 of renal cell carcinoma
Nuclei irregular
nucleoli evident
Grade 3 of renal cell carcinoma
Nuclei very irregular
nucleoli large and prominent
Garde 4 of renal cell carcinoma
Nuclei bizarre and multilobated
nucleoli prominent
What is the third most common cancer in children under the age of 10?
Wilms Tumor (Nephroblastoma)
Where is WT1 tumor suppressor gene located?
chromosome 11p13
What syndrome is Wilms tumor associated with?
Denys-Drash syndrome
What type of cells are in Wilms tumor?
Blastemal (contain ovoid cells)
Stromal
Epithelial
What kind of epithelium is associated with bladder carcinoma? Symptoms?
transitional epithelium
Symptoms: painless hematuria
