11 ) Polycystic Kidney Disease. Tumors of the kidneys Flashcards
what is the who classification for polycystic kidney disease ?
autosomal recessive
mutation on the 6th chromosome
age of onset from childhood
affects bilateral
equally sized cysts
OBLIGATE hepatic involvement
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autosomal dominant mutation on the 16th chromosome or some with alteration of polycystin 1 or 2 PC1 - earlier onset and more severe PC2 -opposite
affects bilateral
cysts vary in size
multiple extraneal manifestations
age of onset is adulthood over 30 years old
what are the clinical manifestation of ARPKD?
frequent heamturea
protruding abdomen due to renal enlargmnet
hepatomegaly
extra renal
-maternal oligohydroaminos - leading to The classical triad of Potter sequence is craniofacial abnormalities (retrognathia , low set ears , flat nose) , clubbed feet, and pulmonary hypoplasia
liver - portal fibrosis - portal hypertension and progressive liver failure
hypertension - unknown cause - difficult to control = congestive heart faille
what are the clinical manifestation of ADPKD?
there is chronic renal failure - if there is sharp flank pain cyst rupture
abdominal pain
nephrolithiasis is common
extra renal :
multiple hepatic cysts - full abdominal pain in the right upper quadrant , bloating
also occur in pancreases , spleen , ovary , testicals
cardiovascular
arterial hyeperteniosn - moring headaches
left ventricular hypertrophyy
MITRAL valve prolapse common
colon diverticula - abdominal pain , inguinal hernias
cerebral berry aneurysm - due to hypertension
= anterior communicating artery = bitemporal loss of vision
posterioir - mydriasis , ptosis
polyurea
gross heamturea
diagnosis of PKD?
proteinurea heamturea urine concentrating ability is the early ======== positive family history genetic tests ===== physical examination palpable , bilateral abdominal masses that are not tender
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ultrasound
ARPKD
enlarged kidney with multiple cysts bilaterally , diffuse increased echogencity of the kidney despite anechoic zones
hepatic cysts and fibrosis of the liver can also be seen
ADPKD
enlarged kidney , multiple cysts with VARYING size
hepatic , pancreatic , splenic cysts also visible
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CT
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intravenous pyelgoran to evaluate obstruction to the renal pelvis and urinary tract
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renal biopsy
ARPKD
cystic dilation of the COLLECTING TUBULES - other nephron segments are not usually affected
and hepatic fibrosis can also be seen
ADPKD
progressive cystic dilation of the tubular system
WHAT IS THE TREATMNET OF pod ?
ACEI or ARB = prevent hypertension and porteinurea and ASRD
tolvaptan
rapidly progressive AUTOSOMAL DOMINANT , or mild chronic disease
it slows down the growth of the kidney cysts in ADPKD
early treatment of urinary tract infections
high fluid intake to prevent kidney stone formation
AVOID nephrotoxic substances such as nsaids , sulphonamides , ahminoglycosides
and vasopressin
in ESRD - severe
hemodilaysys
kidney transplantation - THE ONLY CURATIVE OPTION
portosystemic shunting or lover transplantation may be requires in ARPKD patients with severe hepatic involvement
renal cell carcinoma (RCC) arises from?
adenocarcinomas that usually arise from the epithelial cells of the proximal convoluted tubule
risk factors for RCC
Age of onset: 60–80 years
- earlier in hereditary
Acquired cystic kidney disease as a result of ESRD (unlikely in pkd)
Renal pelvic stones
Obesity / hypertension
hepc
Occupational exposure to cadmium, asbestos
Chronic analgesic use (especially acetaminophen, and aspirin)
causes for hereditary RCC?
4% of renal cell carcinomas are associated with hereditary factors. In both forms, sporadic and hereditary RCCs, structural alterations of the short arm of chromosome 3 (3p) and subsequent alterations of the VHL gene are commonly found.
Von Hippel-Lindau syndrome
Hereditary papillary renal cell carcinoma (HPRCC)
Tuberous sclerosis
Hereditary renal cell carcinomas are autosomal dominant and tend to affect patients at a younger age
Clinical features of rcc?
Renal cell carcinomas are asymptomatic in the early stages. Patients become symptomatic when the tumor has reached a large size (usually > 10 cm) and/or if metastases are present.
The classical triad of renal cell carcinoma:
Hematuria
Dragging/colicky flank pain
Potentially palpable renal mass
Anemia (common): pallor, lethargy
Constitutional symptoms: weight loss , fatigue, night sweats, fever
Paraneoplastic syndromes of rcc
Hypertension - renin
Hypercalcemia : PTHrP (parathyroid hormone-related protein) from the tumor
Polycythemia -erythropoietin secretion
leukemoid reaction - bone marrow stimulation,
Secondary hypercortisolism
ACTH release
Stauffer’s syndrome: non-metastatic hepatic dysfunction characterized by elevated liver enzymes (esp. alkaline phosphatase) and clotting abnormalities
Symptoms of local spread
Varicocele
Budd-Chiari syndrome: lower limb edema, ascites, hepatic dysfunction
tnm classification of rcc?
T1
Tumor is limited to the kidney
Tumor size is ≤ 7 cm in greatest dimension
T2
Tumor is limited to the kidney
Tumor size is > 7 cm in greatest dimension
T3
Tumor extends into major veins or perinephric tissues but not into the ipsilateral adrenal gland
T4 Tumor extends beyond the Gerota fascia (including contiguous extension into the ipsilateral adrenal gland)
staging of rcc
AJCC stage
Stage I
T1; N0
Stage II
T2; N0
Stage III
T1 or T2; N1
T3; N0 or N1
Stage IV
T4; Any N; M0
Any T; Any N; M1
diagnosis of rcc?
Best initial test: abdominal CT scan with contrast
Distorted renal outline and stretched renal calyces
Renal lesion(s) with thickened irregular walls, variable enhancement, and calcification
Renal ultrasound : renal lesion(s) with variable echogenicity
Evaluation of metastatic disease
CT/MRI of the thorax: enlarged mediastinal lymph nodes
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Percutaneous renal biopsy is generally not recommended.
what are the types or RCC ?
Clear cell RCC
most abundant
Proximal convoluted tubule
mutation of vhl and chromosome 3p
histology :Polygonal cells with a clear, glycogen and/or lipid-filled cytoplasm that are arranged as cords or tubules
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Papillary (chromophilic) RCC
Proximal convoluted tubule
Cuboidal, low columnar cells that grow in papillary formations
Bilateral, multifocal growth may occur.
type 1
type 2 = papillary RCC: aggressive tumor with a poor prognosis
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Chromophobic RCC
Intercalated cells of the cortical collecting duct
histology : Large polygonal cells with a prominent cell membrane, eosinophilic cytoplasm, and a perinuclear halo
Excellent prognosis
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Oncocytic RCC
Originate from oncocytomas
Similar to chromophobic RCC except that there is no perinuclear halo and the cells occur as tumor nests
excellent prog
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Collecting duct carcinoma (Bellini duct carcinoma)
Medullary collecting duct
Malignant glandular cells that are arranged as irregular within a fibrous stroma (hobnail pattern)
Medullary duct carcinoma: a variant of a collecting duct carcinoma which is associated with sickle cell disease
v aggressive
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A sarcomatoid pattern (containing foci of high-grade spindle cells), which can occur in any type of RCC, is associated with a poor prognosis
what is the treatment of rcc?
Stage I: cryoablation, thermal ablation, partial nephrectomy , or simple nephrectomy
Stage II–IV: radical nephrectomy
Patients who are unfit for surgery should be monitored for tumor growth and may be treated palliatively with:
Arterial embolization
External beam radiotherapy
Immunomodulatory and/or targeted therapy
Interferon-α (immunotherapy)
Recombinant cytokines (e.g., interleukin-2)
Tyrosine kinase inhibitors (e.g., sorafenib, sunitinib, pazopanib)
