Renal II (a) -Congenital disroders of the kidney/ Tumours Flashcards
——–: Absent ureter or failure to extend to the bladder resulting in a blind ending
Ureteral Artesia
* Artesia –> poor development of an organ during emryonal development
patho of Ureteral Artesia:
Failure of ———– of a segment of ureter during the process of Embryonal development and elongation of the ureteric bud
Failure of canalisation of a segment of ureter during the process of development and elongation of the ureteric bud
Epi and associated symptoms of Ureteral Artesia
- Rare
- Asso w/ –> dysplastic non functioning kidney
dysplastic : under developed
CF of Bilateral Ureteral Artesia
Incompatible with life
CF of Unilateral Artesia
asymptomatic but may
cause hypertension
Complete Duplication of the ureters are often asso w/?
Vesico-Ureteral Reflux, Ectopic Ureterocele, or Ectopic Ureteral insertion
Incomplete Dublication of the Ureters are often asso. w/?
Ureteral Reflux or Uretero-Pelvic-Junction (UPJ) obstruction of the lower pole of the Kidney
———–: Two separate Pelvi-Calyceal Systems joined at UPJ
Bifid Pelvis
——-: Two separate Ureters proximally that join
at any point below the UPJ but before entering into
the Bladder
Bifid Uterus
Epi of Prune Belly Syndrome
more common in males (during birth)
CM of Prune Belly Syndrome
Classical triad:
1. Urinary Tract anomalies
2. Deficient abdominal musculature (wrinkled/Prune-like Appearnace of the abdomin wall)
3. Bilateral Cryptorchidism
other CF:
1) Club foot (Talipes Equinovarus
2) Pulmonary hypoplasia
3) Imperforate Anus
4) Arthrogryposis (joint stiffness at birth)
——— :Abnormal placement of the kidenys due to faulty migration during embryonal development
Renal Ectopia
Simple Ectopy vs Crossed Renal Ectopy
- Simple Ectopy –> kidenys on their normla anatomical body side, but one is located in the pelvis or over the brim
- Crossed Ectopy –> the two kidenys are on the same side, completely independant
Epi of Horseshoe kidney
M > F
Cause of Horseshoe kideny?
associated with a narrow pelvis, as seen in Trisomy 18
In a horseshoe kidney there are Two ——– and Two ———
Two excretory systems and two ureters
CF of Horseshoe kidney in children
i. Urinary Tract Infections (UTIs),
ii. Abdominal mass
iii. Haematuria
complications of Horseshoe kidney
Stone disease, UPJ obstruction, Trauma,
Infections and Tumours
Causes of Potter’s syndrome
i. Bilateral Renal Agenesis, (absence of both kidneys)
ii. Infantile Polycystic Kidney Disease,
iii. Renal Hypoplasia and
iv. Obstructive Uropathy
Bilateral Renal Agenesis –> [Compatible/Incompatible] w/ life?
Incompatible
CF of Potter’s Syndrome
1) Oligohydramnios –> Pulmonary Agenesis –> Fatal Outcome
2) Characteristic Facies: Folds under the Eyes, Flat Nose, Lowset Ears and Receding Chin
* Oligohydramnios : too little amniotic fluid
Potter’s syndrome is Kidney failure due to ———-
Oligohyrdamnios
- Amniotic fluid is the urine produced by the kidneys of the featus
———– : Absence of one Kidney
Unilateral Renal Agenesis
CF of Unilateral Renal Agenesis
No symptoms; incidental finding
————– : Either one small and one larger than normal Kidneys or both Kidneys small
Renal Hypoplasia
Renal Hypoplasia (small kidneys) <> small renal arteries –> ——–
HTN
Causes of Cystic Disease of the Kidney
can be Hereditary, Developmental or Acquired disorders
Macroscopic Features:
* Size: 1-5cm
* Localisation: Cortex
* Translucent
* Gray, glistening, smooth membrane
* Content of cyst: Clear fluid
Microscopic Findings:
* Single layer of cuboidal or flattened cuboidal epithelium
features of?
Simple Renal Cysts (Localized)
Simple Renal Cysts
Macroscopic Features:
* Size: 1-5cm
* Localisation: ———–
* Translucent
* Gray, glistening, smooth membrane
* Content of cyst: ———-
Microscopic Findings:
* Single layer of cuboidal or flattened cuboidal epithelium
Macroscopic Features:
* Size: 1-5cm
* Localisation: Cortex
* Translucent
* Gray, glistening, smooth membrane
* Content of cyst: Clear fluid
Microscopic Findings:
* Single layer of cuboidal or flattened cuboidal epithelium
Epi of Dialysis Assocaited Aquired Renal cysts
Patients with End-Stage Kidney disease and prolonged Dialysis
location of Dilaysis Ass. Aquired renal cysts
Cortex and medulla
Complications of Dialysis ass. aquired renal Cysts
1) Haematuria
2) Development of Renal Adenoma or Papillary Adenocarcinoma
Macroscopic features:
* Loc of Cysts: Cortex and medulla
Microscopic features:
* Multiple cysts
* Cyst lined by simple cuboidal or flattened cells
features of ?
Dialysis ass aquired renal cysts
Autosomal Dominant (Adult) Polycystic Kidney disease are caused by Mutations in ——- (85-90% of cases) and ——- (10-15% of cases)
Mutations in PKD1 (85-90% of cases) and PKD2 (10-15% of cases)
Macroscopic Features:
* Very large Kidneys
* Cut surface: Mass of Cysts (up to 3-4 cm), with no
intervening parenchyma
* Content: Clear, turbid or haemorrhagic fluid
Microscopic Findings:
* Variable lining epithelia of the cystic spaces
* Occasionally, presence of glomerular tufts within the cysts
features of?
AD (Adult) Polycystic Kidney disease
CF of Autosomal Dominant (Adult) Polycystic kideny disease
1) Flank pain
2) Heavy dragging sensation
3) Palpation of an Abdominal Mass
4) Intermittent Gross Haematuria
5) Berry Aneurysms, with high incidence of Subarachnoid Haemorrhage (10-30% of patients)
Adults w/ AD Polycystic Kidney disease have a high incidence of developing?
Subarachnoid
Haemorrhage (10-30% of patients)
complications of AD (Adult) Polycystic kideny disease
- Hypertension (75% of cases)
- Urinary infection
Autosomal Recessive (Childhood) Polycystic Kidney disease are caused by mutations in the ——– gene
Autosomal Recessive (Childhood) Polycystic Kidney disease are caused by mutations in the PKHD1 gene
Macroscopic Features:
* Enlarged organs, with a smooth external surface
* Cut surface: Numerous small Cysts in the Cortex and
Medulla –> Sponge-like appearance
Microscopic Findings:
* Dilated, elongated cystic spaces, vertical to the cortical surface
* Uniform lining of cuboidal cells
* Cysts in the Liver
Features of?
AR (Childhood) Polycystic Kidney disease
Cf of AR (Childhood) polycystic kideny disease
- Death of young infants, from Hepatic or Renal Failure
- Patients, who survive infancy -> Development of Liver
Cirrhosis
Genetic predisposition of Nephronophthisis-Medullary Cystic Disease Complex
Nine responsible gene loci (NHP1-9)
Macroscopic Features:
* Small, shrunken Kidneys
Microscopic Findings:
* Cysts lined by flattened or cuboidal epithelium
* Chronic Tubulo-Interstitial Nephritis
* Tubular Atrophy
* Progressive Interstitial Fibrosis
features of?
Nephronophthisis-Medullary Cystic Disease Complex
CF of Nephronophthisis-Medullary Cystic Disease Complex
Polyuria and Polydipsia
Progression of Nephronophthisis-Medullary Cystic Disease Complex
End-Stage Kidney Disease <> Within 5-10 yrs.
Most common type of Renal stones
Calcium oxalate or mixture of Calcium oxalate with
Calcium phosphate (80%)
Renal stones are aka?
Urolithiasis
cause of Renal stones (Urolithiasis)
Increased urinary concentration of the ston’s componenets
location of Renal stones
Renal Pelves, Calyces and Bladder
Macroscopic features:
* Staghorn Calculi in the renal pelvis
* marked hydronephrosis
Microscopic features:
* mix of calcium oxalate w/ calcium phosphate stones (in the calcyces)
features of?
Renal stones - Uroluthiasis
Staghorn calculi : large renal stones in the renal pelvis
CF of Renal stones (Urolithiasis)
1) Paroxysms (sudden attacks) of Flank pain radiating to the Groin
2) Macroscopic Haematuria
Complications of Renal stones (Urolithiasis)
UTIs
———– : Dilatation of the Renal Pelvis and Calyces, accompanied by Parenchymal Atrophy, as a result of Urine-Outflow obstruction
hydronephrosis
Congenital causes of Hydronephrosis
1) Urinary tract obsrtruction/ narrowing
2) Artesia of the urethra
Aquired Causes of Hydronephrosis
1) Foreign bodies (e.g. Urinary calculi)
2) Proliferative lesions (e.g. BPH, Prostatic Adenocarcinoma, Bladder Tumours [Papilloma or Carcinoma], etc.)
3) Inflammation (e.g. Prostatitis, Ureteritis, Urethritis, etc.)
4) Neurogenic: Spinal Cord damage, with Bladder paralysis
5) Normal pregnancy
Macroscopic Features:
* Marked Kidney enlargement
* Prominent distention of the Pelvi-Calyceal System
* Compression and Atrophy of the Renal Parenchyma
* Obliteration of the Papillae & Flattening of the Pyramids
Microscopic Findings:
* Tubular dilation
* Atrophy and Fibrosis of the tubular lining
* Atrophy and Loss of Glomeruli
* Coagulative Necrosis of the Renal Papillae
* Superimposed Pyelonephritis
features of?
Hydronephrosis
Hydronephrosis
Pathogenesis:
* ————— –> Reflux of the filtrate into the
renal interstitium and peri-renal spaces –> Return into the Lymphatic and Venous System
* Constant and uninterrupted back diffusion of the —— –> ———— of the Renal ——— and ———-
* Generation of ———- in the Renal Pelvis –>
Compression of the ———— –>Arterial insufficiency and Venous Stasis
* Initial functional disturbances <=> Tubular; Manifested by impaired concentrating ability
* Later in the course of the disease –> Decrease in the
———–
- Complete Obstruction –> Reflux of the filtrate into the renal interstitium and peri-renal spaces –> Return into the Lymphatic and Venous System
- Constant and uninterrupted back diffusion of the filtrate –> Dilatation of the Renal Pelvis and Calyces
- Generation of high pressure in the Renal Pelvis –> Compression of the Renal Vasculature ->Arterial insufficiency and Venous Stasis
- Initial functional disturbances <=> Tubular; Manifested by impaired concentrating ability
- Later in the course of the disease –> Decrease in the
GFR
CF of Hydronephrosis in cases of Complete, Bilateral Obstruction
Anuria
CF of Hydronephrosis in cases of Incomplete, Bilateral Obstruction
Polyuria
CF of Unilateral Hydronephrosis
Completely silent for long periods; Discovered incidentally on routine physical examination
—————: Benign tumour, arising from the Oncocytes of Collecting Ducts
Oncocytoma
Epi of Oncocytoma
10% of Renal Tumours
Gentic Predispostion of Oncocytoma
Loss of Chromosomes 1, 14 and Y
Complications of Oncocytoma
Spontaneous Haemorrhage
Macroscopic Features:
* Tan colour
* Central Stellate Scar
Microscopic Findings:
* Numerous mitochondria, within neoplastic cells –> Finely granular eosinophilic cytoplasm
* Hypocellular Hyalinised Stroma
* small, round nuceli
features of?
Oncocytoma
location of Renal Cell Carcinoma
renal Cortex
Epi of Renal Cell Carcinoma
80-85% of all primary Renal Malignant Tumours
M>F
Causes/Risk factors of Renal cell carcinoma
1) Smoking
2) HTN
3) Obesity
4) Acquired Polycystic Kidney Disease, in Chronic-Dialysis patients (30-fold increased risk)
Epi of Clear cell carcinoma
65% of Renal Cell Cancers
Cause of Clear cell carcinoma
Homozygous loss of the VHL gene
(risk factors: smoking, HTN, obesity)
Macroscopic Features:
* Usually, solitary and large, sphaerical masses (3-15cm)
* Cut surface: Yellow to orange to gray-white
* Dilated renal Calcyes
* Central tumour Necrosis and Haemorrhage
* Invasion of Calyces and Pelvis, as well as of the Renal Vein, Inferior Vena Cava and even the Right Heart-side
Microscopic Findings:
* Vacuolated, Clear cells (due to intra-cytoplasmic glycogen and lipid) - classic sign
* Small, round nuclei
Solid cytological picture:
* Cells with pink granular cytoplasm (as tubular epithelium)
features of?
Renal Clear cell carcinoma
Epi of Papillary Renal Cell Carcinomas
10-15% of all Renal Cancers
Causes of Papillary renal cell carcinoma
Activating mutations of the MET gene, in familial cases, but also some sporadic ones
Macroscopic Features:
* Multifocal and bilateral occurrence; Early-stage Tumours
* Cut surface: Weak orange-yellow colour; Necrosis,
Haemorrhage and Cystic degeneration
Microscopic Findings:
* Formation of Papillae with fibrovascular cores
* Foamy macrophages
features of?
Papillary Renal cell carcioma
Epi of CHromophobe Renal Carcinomas
5% of all Renal Cell Carcinoma
Macroscopic Features:
* Tan-brown colour
Microscopic findings:
* Clear, flocculent (Fine reticular) cytoplasm
* Prominent distinct, thick cell membranes
* Peri-nuclear “halos” of clear cytoplasm
features of?
Chromophobe Renal Carcinomas
Chrombophobe Renal Carcinoma
Macroscopic Features:
* Tan-brown colour
Microscopic findings:
* Clear, flocculent (Fine reticular) cytoplasm
* Prominent distinct, thick cell membranes
* “————” of clear cytoplasm
Macroscopic Features:
* Tan-brown colour
Microscopic findings:
* Clear, flocculent (Fine reticular) cytoplasm
* Prominent distinct, thick cell membranes
* Peri-nuclear “halos” of clear cytoplasm
CF of Chromophobe Renal carcinomas
Classic Triad:
1) Haematuria (>50% of cases)
2) Dull Flank Pain
3) Palpable Abdominal Mass
WILMS tumour is aka?
Nephroblastoma
Epi of Wilms Tumour
- Most common primary Renal Tumour in children
- Usually, children 2-5 years old
Causes of Wilms tumour
1) Patients with the WAGR Syndrome (1/3 of Wilms Tumour) cases –> Loss of genetic material of WT1 gene
2) Patients with Denys-Drash Syndrome (90% –> Wilms Tumour); Dominant negative inactivating mutation in WT1 gene
WILMS tumour causes
- Patients with the ———- Syndrome (1/3 of cases -> Wilms Tumour); Loss of genetic material of WT1 gene
- Patients with ———- Syndrome (90% -> Wilms Tumour); Dominant negative inactivating mutation in WT1 gene
- Patients with the WAGR Syndrome (1/3 of cases -> Wilms Tumour); Loss of genetic material of WT1 gene
- Patients with Denys-Drash Syndrome (90% -> Wilms Tumour); Dominant negative inactivating mutation in WT1 gene
CF of WAGR Syndrome
1) Wilms Tumour
2) Aniridia (partial or complete absence of the iris)
3) Genito-Urinary anomalies
4) Mental Retardation
CF of Denys-Drash Syndrome
1) Wilms Tumour
2) Intersex disorders (Gonadal dysgenesis)
3) Congenital Nephropathy
Macroscopic Features:
* Most common, large, solitary, well-circumscribed mass
Cut surface:
* Soft, homogeneous Tumour, with tan to gray colour
* Foci of Cystic degeneration, Haemorrhage and Necrosis
Microscopic Findings:
* Classic triphasic combination of blastemal, stromal and epithelial cell types
- Blastemal component: Sheets of small blue cells
- Stromal component: Fibrocytic or Myxoid cells
- Epithelial component: Abortive Tubules or Glomeruli
features of?
WILMS tumor - Nephroblasmtoma
WILMS tumour - Nephroblastoma
Macroscopic Features:
* Most common, large, solitary, well-circumscribed mass
Cut surface:
* Soft, homogeneous Tumour, with —- to —- colour
* Foci of Cystic degeneration, Haemorrhage and Necrosis
Microscopic Findings:
* Classic triphasic combination of ——–, ——– and ——– cell types
- Blastemal component: Sheets of ————- cells
- Stromal component: Fibrocytic or ——– cells
- Epithelial component: Abortive —— or ———-
Macroscopic Features:
* Most common, large, solitary, well-circumscribed mass
Cut surface:
* Soft, homogeneous Tumour, with tan to grey colour
* Foci of Cystic degeneration, Haemorrhage and Necrosis
Microscopic Findings:
* Classic triphasic combination of stromal, blastemal and epithelial cell types
- Blastemal component: Sheets of small blue cells
- Stromal component: Fibrocytic or Myxoid cells
- Epithelial component: Abortive Tubular or Glomeruli
CF of WILMS tumour
- Commonly: Palpable abdominal mass, extending across the midline and down into the pelvis
- Less often: Fever, Abdominal Pain, and Haematuria
Prgnosis of WILMS tumour
VERY GOOD
