Polycystic KD/Nephrolithiasis Flashcards
Polycystic Kidney Disease (PKD)
General
Autosomal condition characterized by fluid-filled sacs (cysts) in the kidneys that grow larger and lead to gradually loss of kidney function
Autosomal dominant (ADPDK) and recessive forms (ARPKD)
At least two genes account for the autosomal dominant disorder
ADPKD1 on the short arm of chromosome 16
Most common cause affecting 85-90% of patients
ADPKD2 on chromosome 4
Less common cause affecting 10-15% of patients
Slower progression of disease and longer life expectancy
PKD
Autosomal dominant inheritance pattern
The mutated gene is a dominant gene located on a non-sex chromosomes (autosomes)
Only one mutated gene is needed to be affected by this type of disorder
Signs and symptoms appear between 30-40 years of age
PKD
Autosomal recessive inheritance pattern
Two mutated genes, one from each parent is required
These disorders are usually passed on by two carriers (health is rarely affected)
Signs and symptoms can appear shortly after birth or into adolescence
PKD
Patho
Increasing number and size of cysts:
Compromise blood supply to the nephrons = poor perfusion to the kidney → What happens when there is poor perfusion?
Activation of the RAAS → fluid retention & ↑ BP
Compression of the collecting system → urinary stasis and the possibility of kidney stone formation
Destruction of the normal renal architecture → flank pain and hematuria
PKD
Clin Man
Renal Manifestations
Abdominal pain or flank pain
Microscopic or gross hematuria
Hypertension
Abdominal mass (enlarged kidneys that are palpable on exam)
PKD
Complications
Poorly controlled hypertension
Loss of kidney function- ESRD develops by age 60 years in 50% of patients
Nephrolithiasis: 20% of patients
Stones are usually made of calcium oxalate
Renal Infection: Cysts can become infected
Flank pain, fever, leukocytosis
Urinalysis can be normal if the cyst does not communicate with the urinary tract
Development of a cerebral aneurysm (Berry aneurysm)
10-15% of patient have an aneurysm in the circle of Willis
Pregnancy complications
Associated with higher risk for preeclampsia
PKD
Family Hx
Known family history
Diagnostic criteria for autosomal dominant polycystic kidney disease:
Two or more cysts in patients 30 or younger
Two or more cysts in each kidney in patients 30-59 years
Four or more cysts in each kidney in patients 60 years or older
No known family history
CT scan of the abdomen and pelvis to establish the presence of cysts in the kidney(s) and possibly the liver
Genetic testing for the ADPKD1 or ADPKD2 mutations
Don’t memorize
PKD
Imaging
Ultrasound
Performed to detect the size and number of kidney cysts
CT scan or MRI
Performed if ultrasound findings are inconclusive
Can detectcysts of smaller size
Determines total kidney volume (helps assess the risk of kidney disease progression)
PKD
Management of blood pressure
Use of an angiotensin-converting enzyme (ACE) or angiotensin II receptor blockers (ARB)
Target BP of < 110/75 mmHg in young, healthy individuals aged 18 to 50 years with normal GFR
Target BP of < 130/80 mmHg in all other patients
PKD
Lifestyle Mods
Dietary sodium restriction
2 grams intake per day or less
Increase fluid intake
Drink > 3 L of fluid per day, unless the eGFR is < 30 or the patient is at risk for hyponatremia (taking a thiazide diuretic)
Suppress plasma vasopressin (antidiuretic hormone (ADH)) levels
Limit alcohol use
OTC acetaminophen for chronic pain; avoid use of NSAIDs
PKD
End-stage renal disease (ESRD)
~half ofpatients ≥ 75 years of age
Hemodialysis orperitoneal dialysis
Kidney transplantation
Nephrolithiasis/ Urolithiasis
General
One of the most common conditions affecting the urinary system
Formation of a stone (calculus) anywhere along the urinary tract
Caused by the precipitation of solutes (minerals and salts) in the urine
Most common stone composition:
Calcium oxalate 70-80%
Struvite (ammonium magnesium phosphate) 5-10%
Uric acid 10%
Cystine < 5%
Calcium phosphate 5%
Most common in non-Hispanic white patients; least common in black and Asian patients
Incidence increases with age
19% of men and 9% of women will be diagnosed with a kidney stone by age 70
Nephrolithiasis/ Urolithiasis
RF
Family history
Urinary factors
pH
Alkaline urine (≥ 6.5) → calcium phosphate stones
Acidic urine (≤ 5.5) → uric acid stones
Volume
Higher urine volume is associated with a lower risk
Dietary factors
Higher consumption of animal protein and lower intake of fruits and vegetables → decreased urine pH (uric acid stones)
Sugar-sweetened beverages
High serum and urine calcium
Dehydration
Excessive concentration of urine solutes → stone formation
Loop diuretics
Inhibits calcium reabsorption → hypercalcinuria
Also has an inhibitory effect of sodium and potassium
Examples: furosemide (Lasix) and bumetanide (Bumex)
Nephrolithiasis
Kidney Stones
All stones are radiopaque except uric acid stones
Calcium oxalate, uric acid, and calcium phosphate are non-infection stones
Struvite are infection stones
Cystine stone is a genetic stone; autosomal recessive defect insodium-dibasicamino acidcotransporter