Polycystic Kidney Disease

Joel M. Topf, MD
• 12.5 million individuals with ADPKD

• 10% of ESKD

• Fourth most common cause for renal replacement therapy worldwide

• Hypertension from childhood • Reduced quality of life

• Kidney failure in 50% 30s-50s • Reduced quantity of life

• Abdominal fullness and pain • 53 years PKD1

• Cyst hemorrhage • 69 years in PKD2

• Gross hematuria often in adolescence • Liver, pancreas intestine cysts

• Nephrolithiasis • Cerebral aneurysms

• Cyst infections • Abnormal heart valves

kidney size

creatinine
 • There are two genes
PK
• PKD1 on chromosome 16 PKD2
D2
• PKD2 on chromosome 4 PK
PKD1
• There are many mutations that cause ADPKD D1

• 15% of genetic tests will be false negatives

PKD1
• No family history in 10-15% of cases

• Ultrasound is standard diagnostic tool

• innumerable cysts and large kidneys

• U/S can rule out disease over the age 40

• In adults under 40 use MRI (< 5 cysts should rule it out)

MRI w/ Gad T1

MRI w/ Gad T2

GFR is still normal

• Proteinuria is found in 25%

• Proteinuria is a bad prognostic sign

• Rarely more than 1 gram per day

• If nephrotic range, consider an additional diagnosis

• Hypertension begins in childhood

• Some data supports really low

blood pressures

• BP 95-110/60-75

• Avoid diuretics as first or second

line agents

• ACEi

• CCB

Schrier RW. Blood pressure in early autosomal dominant polycystic kidney disease. N Engl J Med. 2015;372(10):976-7.
• Vasopressin (ADH) is thought
to accurate disease

• Drink water

• Avoid caffeine

• Tolvaptan

• approved in Europe and

Canada

Torres VE, Chapman AB, Devuyst O, et al. Tolvaptan in patients with autosomal
dominant polycystic kidney disease. N Engl J Med. 2012;367(25):2407-18.
• Cyst rupture is painful

• Causes hematuria that can last for days

• Cyst infections

• Ciprofloxacin or bactrim

• Cipro interacts with tolvaptan

• Prolonged therapy may be needed

• Kidney stones prevalence is 20% in 10 years

• Many stones are asymptomatic

• More common in advanced disease

• Uric acid stones and calcium oxalate stones are the most common

• Diagnosis can be tricky

• Lots of abdominal pain

• CT scan without contrast is the modality of choice

• Treatment is identical to non-stone disease

 nephrectomy
• Recurrent and/or severe:

• Infection

• Symptomatic nephrolithiasis

• Bleeding

• Intractable pain

• Suspicion of renal cancer

• Space restrictions prior to transplantation

Ekser B, Rigotti P. Images in clinical medicine. Autosomal dominant polycystic kidney disease. N Engl J Med. 2010;363(1):71.
• Peritoneal dialysis

• hernias

• increased colonic diverticula

• space restrictions
• Intracerebral aneurysms
• 9–12% of patients with ADPKD
vs 2–3% in the general
population
• Indications for screening:
• good life expectancy
• family history of ICA or
subarachnoid hemorrhage
• previous ICA rupture
• high-risk professions (e.g.,
airline pilots)
• patient anxiety despite adequate
information.
• Time-of-flight MRI without
gadolinium enhancement is the
screening method of choice.
• Individuals with small, untreated
unruptured ICAs should be
reevaluated every 6–24 months
Prevalence of intracerebral aneurysms

12%

9%

6%

3%

0%
<20 20-29 30-39 40-49 50-59 60+
• Cumulative imaging follow-up: 243 patient years:

• one new aneurism and it grew from 2 to 4.4 mm over 12 years

• 2 other patients had aneurisms grow

• 4.5 to 5.9 mm over 5 years

• 4.7 to 6.2 mm over 15 years

• 28 patients had no change in their aneurysms

• No aneurysm ruptured

• Three were clipped

• One was not clipped despite advise to do so. 9.8 mm

• 80% of patients develop liver cysts

• Women get more and larger cysts

than men

• More pregnancies→more cysts

• huge, silent, and durable

Rx estrogen increases liver size

• Unrelated to severity of kidney

disease

• Liver involvement does not follow

family history