Polycystic Kidney Disease

Question 1

What is Polycystic Kidney Disease (PDK)?

Answer 1

-clusters of noncancerous cysts that develop primarily within the renal cortex and tubules**
-over time, the cysts replace the renal parenchyma resulting in renal failure
-multi-systemic and progressive disorder causing enlargement of the kidneys

Question 2

Usually ______ disease

Answer 2

autosomal dominate disease
-family history accounts for 75% of cases (distinctly genetic familial condition)

Question 3

Forms of PCKD

Answer 3

1) autosomal dominant polycystic kidney disease (ADPKD)
2) autosomal recessive polycystic kidney disease

Question 4

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Answer 4

-most common - accounts for ~90% of cases
-onset of symptoms between ages 30-40
-ONE parent has the disease
-associated with increased risk of cerebral aneurysm**
(later in life, not as severe)
-up to 50% end up on dialysis

Question 5

Autosomal Recessive Polycystic Kidney Disease

Answer 5

-very rare, but MORE severe
-diagnosed in INFANCY or in utero and onset of symptoms SHORTLY after birth into childhood
-BOTH parents must have the mutated gene
-presents with: renal failure, liver fibrosis, and portal hypertension
-may lead to death in the first few years of life

Question 6

Autosomal Dominant

Answer 6

One parent affected
-50% of having condition
-50/50: if you have gene= you will be affected

Question 7

Autosomal Recessive

Answer 7

-both mom and dad carry the recessive gene (but they have no signs of the disease)
-25% of children = completely clear of disease
-50% of children = carriers, won’t display the disease
-25% have the disease that manifests

Question 8

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Answer 8

1) PKD1
2) PKD2

Question 9

PKD1

Answer 9

-more common: ~85% of patients with ADPKD
-mutation on chromosome 16
-codes for: protein polycystin 1 ***
-kidney failure presents earlier in life (average age 55 years old)

Question 10

PKD2

Answer 10

-more rare: ~15% of patients with ADPKD
-mutation on chromosome 4
-codes for polycystin 2 (ion channels for excretion process that takes place in tubules)
-milder form of ADPKD- presents later in life and progresses more slowly

Question 11

Pathophysiology

Answer 11

-early in the disorder, tubules dilate and slowly fill with glomerular filtrate
-tubules separate from the functioning nephron and fill with secreted fluid forming cysts
-enlargement of the cysts causes pain, hypertension, infections, hematuria, kidney stones, and renal insufficiency

Question 12

PKD

Answer 12

cysts forming on the tubules– enlarge; can separate from the tubules–> cysts
-cyst stage: a lot of problems– decreased filtration from pressure

-kidneys get 25% of cardiac output

Question 13

Clinical Findings

Answer 13

-htn
-abdominal or flank pain (sharp, localized pain may result from cyst rupture, infection or passage of renal calculi)
-hematuria- gross or microscopic
-proteinuria
-history of UTIs or nephrolithiasis
-large kidneys that can occasionally be palpated on exam

-if cysts rupture: can have blood into urine (as blood flow to glomeruli decrease, start letting protein through that shouldn’t go through)

Question 14

External Manifestations

Answer 14

-cysts on other organs- liver, pancreas, spleen, thyroid, epididymis, intestinal
-diverticula
-inguinal and abdominal wall hernias
-valvular heart disorders - mitral valve prolapse and aortic regurgitation
-aneurysms- cerebral, coronary artery and aortic

(not confined to kidneys)

Question 15

Overview-Complications

Answer 15

Cyst rupture
Hepatic failure
Cerebral aneurysm, subarachnoid hemorrhage
Diverticula
Mitral valve prolapse
Metabolic abnormalities
Renal calculi
Renal failure
Respiratory failure
Heart failure
Recurrent hematuria
Life-threatening retroperitoneal bleeding

Question 16

Assessment-History

Answer 16

Family history
Polyuria
Urinary tract infections
Headaches
Pain in back or flank area
Gross hematuria
Abdominal pain, usually worsened on exertion and eased by lying down

Question 17

Assessment-Physical Findings

Answer 17

Hypertension
Microscopic or gross hematuria
Increased abdominal girth
Signs of an enlarging kidney mass
Grossly enlarged kidneys (in advanced stages)
Uremic fetor
Pallor

Question 18

Diagnostic Test Results-Laboratory

Answer 18

Urinalysis may show hematuria, bacteriuria, or proteinuria.
Creatinine clearance test results may show renal insufficiency or failure.
Hematocrit may be elevated.
Serum albumin levels may be decreased.
Serum electrolyte levels may reveal hyponatremia, hyperkalemia, hyperphosphatemia, or hypocalcemia.

Question 19

Diagnostic Test Results-Imaging

Answer 19

Excretory or retrograde urography reveals enlarged kidneys, with pelvic elongation, flattening of the calyces, and indentations caused by cysts.
Magnetic resonance imaging (preferred test) shows multiple areas of cystic damage.

Question 20

Treatment-General

Answer 20

Monitoring of renal function
Dialysis; renal replacement therapy
Transcutaneous electrical nerve stimulation (TENS) and hypnotherapy for chronic pain

Question 21

Treatment-Diet

Answer 21

Low-sodium
Fluid management based on degree of renal dysfunction

Question 22

Treatment-Medications

Answer 22

1. Analgesics, such as opioids, transcutaneous opioid patches, or perinephric injection of local anesthetics, for pain relief
2. Antibiotics, such as ciprofloxacin hydrochloride, levofloxacin, or trimethoprim-sulfamethoxazole for urinary tract infection
3. Antihypertensive agents, such as angiotensin-converting enzyme (ACE) inhibitors (captopril, enalapril, or lisinopril) or angiotensin receptor blockers (losartan potassium, irbesartan, or candesartan cilexetil), for hypertension
4. Diuretics, such as furosemide, to treat hypertension and renal calculi
5. Electrolyte replacements, such as calcium carbonate, and phosphate binders to reduce phosphorus load in renal failure.

Question 23

Treatment-Surgery

Answer 23

Kidney transplantation
Surgical drainage for cystic abscess or retroperitoneal bleeding