Renal cell carcinoma (RCC) arises from the renal tubular epithelium. It is the most common renal malignancy in adults (nearly 85% of renal cancers are RCC). RCC can be sporadic (in most cases) or associated with hereditary disorders.
Age on onset 6th -7th decade, more common in man. Hereditary renal cell carcinomas have an early age of onset.
High-risk group
Smokers
Hypertensive
Obese
Genetic factors
The acquired polycystic disease-The risk for developing renal cell cancer is increased 30-fold in individuals with the acquired polycystic disease.
Wilms tumor (nephroblastoma) is the most common primary tumor of the kidney in children. Most cases are children between 2 and 5 years of age.
Pathogenesis
Sporadic (nearly 90%of cases) –
Molecular abnormalities related to sporadic cases are-
the beta-catenin gain of function mutation
Tp53 mutation
microRNA processing defect
Syndromic –
It is associated with other genetic mutations and hereditary conditions.
The following three are most commonly associated with Wilms tumor-
WAGR Syndrome-
Wilms tumor, Aniridia, Genitourinary abnormalities, and mental Retardation are present in this syndrome. It is associated with the deletion of the WT1 gene and Pax6 gene. The WT1 gene is critical for renal and gonadal development. The loss of WT1 causes renal tumors and genitourinary abnormalities.
Shock is characterized by diminished cardiac output or reduced effective circulating blood volume which impairs tissue perfusion. This systemic hypoperfusion of various organs leads to cellular hypoxia and multiorgan failure.
Urinary Tract Obstruction leads to impairment in the normal flow of urine → urinary stasis and increased pressure in part proximal to obstruction → increased pressure impairs renal and urinary tract functions → renal atrophy and cortical thinning. It is a common cause of acute and chronic kidney disease (obstructive nephropathy).
Xeroderma Pigmentosum (XP) is a rare, autosomal-recessive, hereditary skin disease. It is caused by defective DNA repair mechanisms (i.e., nucleotide excision repair). The affected individuals get skin ulcers and skin burns with minimal UV radiation (Sunlight contains UV Radiation so they can’t tolerate sunlight.
Urinary Tract Obstruction Most common sites Normal points of Narrowing are the most common sites of UTO – UP, UV, BN, UM- Ureteropelvic Junction (UP) Ureterovesical Junction (UV) Bladder Neck (BN) Urethral Meatus (UM) …
Potter sequence is the atypical physical appearance of a baby due to oligohydramnios and intrauterine compression.
Oligohydramnios means reduced amniotic fluid volume, which is sufficient to cause deformations due to pressure caused by the uterine wall.
It is associated with conditions causing oligohydramnios, such as bilateral renal agenesis, infantile polycystic kidney disease, renal hypoplasia, and obstructive uropathy. A decrease in the volume of amniotic fluid is due to decreased urine production.
Renal artery stenosis is the narrowing of one or both renal arteries, which leads to hypertension and renal atrophy. The majority of cases (nearly 90%) are associated with lumen narrowing due to atherosclerotic plaque, which occurs more in men > 50 years of age. There is a thickening of the renal arterial wall causing luminal narrowing in (nearly 10% of cases). It mostly affects women < 40 years of age.
Gitelman syndrome (GS) is also known as familial hypokalemic hypomagnesemia with hypocalciuria. It is an autosomal recessive hereditary salt-losing tubulopathy. It is characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. The disease is caused by mutations in the SLC12A3 gene encoding the thiazide-sensitive sodium chloride cotransporter (loss of function mutations in NCCT).
Hartnup disease is a congenital disorder characterized by a defect in the renal and intestinal transport of neutral amino acid, especially tryptophan. It has autosomal recessive inheritance, and it is associated with mutation in the SLC6A19 gene.
