Intro To Renal And Congenital Anomalies

Front 1

What is the definition of Azotemia?

Back 1

Elevated Blood creatinine and BUN associated with decreased GFR

Front 2

what are the symptoms associated with uremia?

Back 2

neurological (seizures, altered mental state, peripheral neuropathy), GI disturbances (bleeding), and cardiovascular disturbances (pericarditis)

Front 3

define nephritic syndrome

- where is it classically seen?

Back 3

a glomerular problem - gross hematuria, mild-modest proteinuria, and hypertension

classically seen in post-streptococcal glomerulonephritis

Front 4

define nephrotic syndrome

Back 4

gross proteinuria (> 3.5mg/day), hypoalbuminemia, edema, hypertension, hyperlipiduria, hyperlipidemia

Front 5

define acute renal failure

Back 5

oliguria or anuria, recent onset of azotemia. Can be from glomerular, vascular, or tubular (ATN)causes

Front 6

what symptoms are seen in tubular defects?

Back 6

polyuria, nocturia, electrolyte imbalances

Front 7

what shows up on labs when you've got a UTI?

Back 7

bacteruria and pyuria

Front 8

Chronic renal failure
- what defines diminished renal reserve?
- what defines renal insufficiency?
- what defines renal failure?
- what defines end stage renal disease?

Back 8

diminished renal reserve - GFR < 50% of normal. Azotemia may develop

renal insufficiency - GFR is between 20-50% of GFR. Overt Azotemia with anemia and hypertension. Polyuria and Nocturia due to lack of ability to concentrate urine

renal failure - GFR < 20% of normal. Edema, metabolic acidosis and hypocalcemia develop from loss of ability to reabsorb bicarb.

end stage renal disease - GFR < 5% of normal. Outright uremia - this is fatal

Front 9

What are patients with unilateral kidney agenesis at risk for?

Back 9

progressive glomerular sclerosis

Front 10

how can you tell a truely hypoplastic kidney from one that was due to vascular abnormalities, infectious, or other parenchymal disease?

what is Oligomeganephronia?

Back 10

truely hypoplastic kidneys have NO scars and reduced number of renal lobes and pyramids

Oligomeganephronia = fewer nephrons that are enlarged due to compensatory mechanisms

Front 11

What characterizes renal cystic dysplasia?
- salient histological presentation?

Back 11

abnormal tissues like cartilage, undifferentiated mesenchyme (connective tissue) and immature collecting ducts

Front 12

What are the two genes involved in Adult Polycystic Kidney Disease?

- What chromosome are they found on?

What kinds of proteins do they express?

Mutation of which one has a worse prognosis?

Mutation of which one is more common?

Back 12

PKD1 - polycystin 1 protein involved in matrix to cell and cell to cell adhesion. PKD1 mutation is more common and associated with earlier onset (53 years) of death

PKD2 = cation channel. Mutation is less ommon (15%) and associated with a less severe disease with death median of 69 years.

PKD1 is found on 16 and PKD2 is found on chromosome 4.

Note: APDK1 the childhood gene is found on chromosome 6

Front 13

Why does mutation of PDK1 and PKD2 necessitate polycystic kidney disease?

Back 13

PDK1 mediates contact inhibition of cell growth and PDK2 is responsible for allowing Ca++ into the cell to invoke growth mechansms. Possibly both of them work together to regulate intracellular Ca++. Lack ofregulation of Ca++ influx leads to too much growth
- sustained fluid secretion and cell growth leads to cysts

Front 14

in adult polycystic kidney disease where else in the body do cysts show up?

Name 3 other abnormalities that are common in APKD

Back 14

In the liver!

-intracranial berry aneurysms affecting the circle of Willis
-cardiac valcular abnormalities (mitral prolapse)
- 40% die from coronary and hypertensive diseases

Front 15

In APKD
- are the kidneys large or small?
- as cysts get larger what can happen?
- can you palpate the cysts?
- onset of the disease is seen with?

Back 15

kidneys can get huge!

cyst enlargement can encroach on the pelvis leading to obstruction

YES you can palpate the cysts

insidious hematuria, proteinuria and hypertension

Front 16

What gene is responsible for polycystic disease in childhood? Is the inheritance dominant or recessive?

Back 16

APKD1 - autosomal recessive
- codes for fibrocystin-1 which has a possible role in collecting duct and biliary differentiation

Front 17

Is childhood polycystic disease more or less malignant than adult version?

Is it normally bilateral or unilateral?

Back 17

More malignant!

invariantly bilateral whereas the adult version is sometimes unilateral

Front 18

What are the salient histological features of childhood polycystic kidney disease?

What other organ system is invariably involved and how?

What happens to those that actually survive infancy?

Back 18

dilated channels at right angles to the cortical surfaces. Cysts have cuboid epithelial suggesting collecting duct etiology

invariably there are cysts in the liver with protal hypertension and proliferation of biliary ducts (recall the APKD-1 protein encodes fibrocystin-1 that is responsible for biliary duct proliferation)

They get congenital hepatic fibrosis

Front 19

Is medullary Sponge disease malignant or benign?

Histological salient features?

Back 19

benign

papillary ducts are dilated with small cysts lined by urothelium or or cuboid epithelium

Front 20

Nephronophthisis-Medullary Cystic Disease

Affects mostly children or adults?

What is the initial injury?
What is responsible for the renal insufficiency?

How does it present?

Salient Histo features?

Back 20

Most children and some adults

tubular injury - disease is also calleded hereditary tubulointerstitial nephritis

children present with polydipsia and polyuria due to lack of ability to concentrate urine.

even though cysts are present the renal insufficiency is due to tubular atrophy

Cysts are found mainly at the corticomedullary junction surrounded by fibrous tissue

Front 21

on Nephronophthisis-Medullary Cystic Disease

What genes are responsible for adult vs childhood disease?

Are they autosomal dominant or recessive?

What do the kidneys look like on gross inspection?

Back 21

NPH1,2,and 3 genes responsible for autosomal recessive childhood disease.

MCKD1,2 genes responsible for adult autosomal dominant disease - death happens later in life.

The kidneys are small! These are the only cystic diseases where the kidneys get smaller

Front 22

What two problems are people on chronic dialysis prone to?

Back 22

worst case scenario is that 7% of dialyzed tend to get renal cell carcinoma after 10 years.

many patients get cysts filled with calcium oxalate crystals

Front 23

how can you tell a siple benign cyst from a malignant cyst?

Back 23

they are avascular, have smooth contours, and give fluid signals on ultrasonography.