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Dr M Bromfield
mahiri.bromfield02@uwimona.edu.jm
Outline
• Learning Objectives
• Introduction – Renal Cysts
• Simple cysts
• Polycystic Kidney Disease
– Autosomal Dominant
– Autosomal Recessive
• Introduction – Renal Tumours
– Angiomyolipoma
– Renal cell carcinoma
– Nephroblastoma (Wilms Tumour)
• Summary Quiz
Learning Objectives
At the end of this class you should be able to:
• Classify cystic lesions of the kidney
• Classify tumours of the kidney
• Describe the pathology and clinical features of:
– Simple renal cysts
– Autosomal Dominant Polycystic Kidney Disease
– Autosomal Recessive Polycystic Kidney Disease
– Renal Cell Carcinoma
– Nephroblastoma (Wilms Tumour)
Introduction – Renal Cysts
• Common
• Heterogeneous group
– Cystic renal dysplasia
– Polycystic kidney disease
– Medullary cystic disease
– Acquired (dialysis-associated) cystic disease
– Simple renal cysts
– Cysts in hereditary malformation syndromes e.g. tuberous sclerosis
– Glomerulocystic disease
– Extraparenchymal renal cysts e.g. pyelocalyceal
• May be a diagnostic challenge
• May cause renal failure
• May resemble malignancy
Cystic Diseases
-Palpable intra-
abdominal to
pelvic masses
• Cysts from all segments of the nephron
– Normal parenchyma between cysts → ischemic atrophy
• Symptomatic by 4th decade
– Flank pain
• Acute distension with hemorrhage or obstruction
– Intermittent gross hematuria
– Hypertension (75%)
– Urinary tract infection
• Berry aneurysms of the Circle of Willis
– 10-30%; risk of subarachnoid hemorrhage
• Associated with cysts in other organs
– Liver (40%); spleen; pancreas; lungs
• Cardiac anomalies e.g. mitral valve prolapse (20-25%)
• Slow progression; some have normal life spans
• End-stage renal disease (5-10%)
– Transplantation
– Dialysis
Autosomal Recessive
Polycystic Kidney Disease
• Hereditary – homogeneous; PKHD 1 (6p 21-23) → fribrocystin
– Also expressed in liver and pancreas
• Children
– Perinatal Most Often
– Neonatal common fatal
– Infantile
– Juvenile
• Rare developmental anomaly
– Fibrocystin = Cell surface receptor → collecting duct and biliary differentiation
• Bilateral
• Cysts form from collecting ducts = cuboidal epithelium
• Liver cysts + bile duct proliferation → cirrhosis
• Death
– Renal failure, pulmonary failure, congenital hepatic fibrosis
ARPKD C.
Introduction – Renal Tumours
Benign
e.g. Angiomyolipoma,
oncocytoma
Primary
Renal
Malignant
Tumour Secondary
(Metastatic)
Angiomyolipoma
• Benign tumour
• Often asymptomatic; incidental finding
• Common in Tuberous Sclerosis
– 25-50% of patients
• A mixture of elements
– Blood vessels
– Smooth muscle
– Fat
Angiomyolipoma E.
Renal Cell Carcinoma
• Adults (6th -7th decade; M>F)
• Most common primary malignancy
• Cortical tumour (from tubular epithelium = adenocarcinoma)
• Risk factors:
– Older age
– Tobacco smoking
– Obesity (F)
– Hypertension
– Acquired cystic renal disease (ESRD, chronic dialysis)
– Renal transplantation
– Hereditary syndromes e.g. tuberous sclerosis, VHL
• Hematuria (microscopic +/- gross); dull flank pain, palpable
mass, fever, polycythemia (↑ erythropoietin),
paraneoplastic syndromes
• Often present late
• Metastasis to lungs, bones, lymph nodes, liver, adrenal glands, brain
• Located at the poles (upper > lower)
• Classification based on molecular origin
– Clear cell / classic
– Papillary
– Chromophobe
• Chromophobe RCC
– Least common (5%)
– Arise from intercalated cells of cortical collecting ducts
• Less clear (more pink staining) cells cf. clear cell RCC
• Prominent cell membranes
• Peri-nuclear halos
– Multiple losses of whole chromosomes (extreme hypodiploidy)
• 1,2,6,10,13,17,21 or Y (80%)
– Excellent prognosis
Histology of RCC E.
RCC A.
Treatment and Prognosis
• Radical nephrectomy
• Chemotherapy
• Targeted therapy (VEGF-receptor inhibitors)
• Early stage disease = 70% 5-year survival
• Patients with metastasis at presentation = 5-
year survival of 45%
• Extension into the renal vein or perinephric fat
= 5-year survival of 15-20%
Nephroblastoma (Wilms Tumour)
• Mainly in childhood (avg. 2-5 years old); M=F
• Most common primary in kidney
• 5-10% bilateral (synchronous or metachronous)
• Very large kidneys = abdominal mass +/- abdominal pain, fever,
hematuria, intestinal obstruction, hypertension
• Tumour suppressor gene WT-1 (11p13)
– Sporadic
– Familial (autosomal dominant)
• Increased risk with congenital malformations
– WAGR (aniridia, genital abnormalities, mental retardation)
– Denys-Drash syndrome (gonadal dysgenesis, early nephropathy →
renal failure)
– Beckwith-Wiedemann (organomegaly, macroglossia, omphalocoele,
hemihypertrophy, adrenal cytomegaly)
• Tri-phasic histology resembles stages of development
– Blastema (small blue cells)
– Epithelial cells (abortive tubules and glomeruli)
– Stroma (fibrous, mucoid etc.)
• Anaplasia (lack of differentiation)
– p53 mutation; resistance to chemotherapy; poor prognosis
• Nephrogenic rests (precursor lesions adjacent to tumour)
– Risk of contralateral disease
• Often metastasis to lung present
• Treatment
– Nephrectomy
– Chemotherapy
• Prognosis: Good (90% survival at 2 years)
• Survival >2 years = cure
• Second tumours e.g. bone, soft tissue, brain, genitourinary, lymphoma
– Therapy
– Genetics
Nephroblastoma
Summary Quiz
Questions Answers