Professional Documents
Culture Documents
An Approach To Cystic Kidney Disease: Dr. Abhijit Taraphder Head, Dept. of Nephrology Apollo Gleneagles Hospitals Kolkata
An Approach To Cystic Kidney Disease: Dr. Abhijit Taraphder Head, Dept. of Nephrology Apollo Gleneagles Hospitals Kolkata
DISEASE
ADPKD
ARPKD
NEPHRONOPHTHISIS
MSK
TSC
VHL
SIMPLE CYSTS
FEATURES OF ADULT RENAL CYSTIC DISEASES
SIMPLE CYSTS ADPKD MSK VHL TSC ACKD
ONSET >40 YRS 30-40 YRS 20-40 YRS 30-40 YRS 10-30 YRS WITH ESRD
CYSTS SINGLE/ MULTIPLE MULTIPLE FEW/ MULTIPLE MULTIPLE
MULTIPLE BILATERAL
CYST UNCOMMON COMMON COMMON UNCOMMON UNCOMMON UNCOMMON
INFECTION
TUMOUR NO RARE NO RCC/ OFTEN RCC/ COMMON
FORMATION BILATERAL ANGIOMYOLIP
OMA
BLOOD NORMAL/ INCREASED NORMAL NORMAL/ NORMAL/ NORMAL/
PRESSURE INCREASED INCREASED INCREASED INCREASED
RENAL NORMAL NORMAL/ NORMAL NORMAL NORMAL/ IMPAIRED
FUNCTION IMPAIRED INCREASED
STONE NO COMMON COMMON NO NO NO
FORMATION
LIVER CYSTS NO COMMON NO RARE NO NO
PANCREAS NO OCCASIONAL NO YES, MULTIPLE NO NO
CYSTS
CNS NO ANEURYSMS NO HEMANGIOBLA SEIZURE/ NO
INVOLVEMENT STOMAS MENTAL
RETARDATION
SKIN LESION NO NO NO NO FACIAL ANGIO NO
FIBROMA
ROLE OF GENETIC TESTING
• ADPKD
Inconclusive radiology
Positive F/H with no cysts < 30 years of age
Potential LR donors with no cysts
Clinical ADPKD with absent F/H
Family planning/ Insurance decisions
ROLE OF GENETIC TESTING
• ARPKD
Prenatal diagnosis when one child is affected
In individuals being evaluated as a potential
kidney donor
Indicated in cases of inconclusive radiology
• Nephronophthisis & related disorders
Routine screening not recommended owing to
the low frequency of detected mutations
FUTURE OF GENETIC TESTING
A large variety of gene mutations can lead to
cystic kidney diseases
Mutations in the same gene can cause
different disorders
Different phonotypes may be manifested as a
result of mutations of one or more genes
Introduction of next-generation sequencing
(NGS), with a targeted approach, search can
be focussed on specific genes ( a ciliary panel)
SIMPLE RENAL CYSTS
•Asymptomatic, solitary, unilateral
•Located in the renal cortex
•Smooth wall lined by a single layer
of epithelial cells
•Round/oval in shape
•No internal debris/septa
•Usually less than 3cm in size
SIGNIFICANCE OF “ SIMPLICITY”
• Chance of malignancy
Simple cysts have a < 1% risk
• Followup:
a) no following indicated in “ simple” cysts
b) CT Scan at 3/6/12 months interval and then
yearly in stage 3F onwards
• Whether fore runners of cystic kidney
diseases
SIMPLE CYSTS Vs CYSTIC KIDNEY
DISEASE
• Age at presentation (? 40 years)
• Family history ( yes/no)
• Number of cysts ( Ravine criteria)
• Kidney size ( Small/ Large)
• Method of investigation ( USG/ CT/ MRI)
• Genetic testing
AGE & SIMPLE CYSTS
• Detected in fetuses in early pregnancy (14-16
wks) with an incidence of 0.09%
but majority are transient
• Extremely rare between birth & 20 years
• Between 30 & 49 years: 1.7%
• Between 50 & 70 years: 11.5%
• Above 70 years: 22.1%
[ Ravine D et al. Am J Kid Dis 1993; 22: 803-807 ]
RISK FACTOR/OUTCOME
• Overall consensus is lacking
• Most StⅠ cysts grow slowly
• Most cysts do not become more than double
in 10 years
• Only a handful of case reports describe
evolution into neoplasms
SIMPLE CYST(S) IN DONOR KIDNEY
No consensus
Abnormal renal imaging including the presence
of 2 or more cysts in each kidney is a
contraindication to kidney donation
[Pham PC, et al. Am J Kid Dis 2007;50:1043-1051]
The presence of stage 1 renal cysts in a potential
kidney donor is not a barrier to renal
transplantation.
[Simms RJ and Ong ACM. NDT 2014, 29: iv 106 – iv 112]
EXTRA- RENAL MANIFESTATIONS OF
ADPKD
• LIVER and PANCREAS
Hepatic Cysts
Originate from bile duct epithelium
Female tend to have more cysts
Hepatic dysfunction: Rare
No correlation with malignancy
Cysts infection-PET CT
-↑ CA 19-9
Jaundice/ Ascites/ Cholecystitis
Somatostatin analogues/ Resection/ TX
EXTRA- RENAL MANIFESTATIONS OF
ADPKD
Pancreatic Cysts
Increasing age
Female sex
PKD1 mutation
Benign in nature
Chronic pancreatitis
EXTRA- RENAL MANIFESTATIONS OF
ADPKD
CENTRAL NERVOUS SYSTEM
CNS Cysts
Arachnoid cysts: benign in nature
Increased risk of chronic SDH
Grow slowly
Spinal meningeal cysts
Rare (< 2%) association
EXTRA- RENAL MANIFESTATIONS OF
ADPKD
Aneurysms
Without F/H: 6%
With F/H : 20%
ICA rapture : 5 times that in general
population
ICA rapture : clusters in family
ICA rapture : 60% mortality
Small (< 7mm), anterior circulation
Both PKD1 & PKD2 gene- association
Also found in abdominal aorta,
splenic-coronary-popliteal arteries
SCREENING FOR INTRACRANIAL
ANEURYSMS IN ADPKD
Who should be screened
Any symptomatic patient ( headache, TIA, cranial
nerve palsy)
Having a positive family history ( specially rapture)
Past history of ICA rapture
High risk occupation (e.g. pilot)
Prior to renal transplantation
Who will receive long term anticoagulation (e.g.
prosthetic valve)
Having anxiety regarding an ICA
SCREENING FOR INTRACRANIAL
ANEURYSMS IN ADPKD
Method of screening
MR angio without gadolinium
Rescreening
Every 5 years in high risk
After 10 years in low risk
EXTRA RENAL MANIFESTATIONS OF
ADPKD
CARDIOVASCULAR
Hypertension( upwards of 70%)
Left ventricular hypertrophy
Mitral valve prolapse (15%)
Mitral regurgitation (30%)
Aortic regurgitation (10-20%)
Tricuspid prolapse (5%)
Strategy: Early detection of ↑BP
ABPM if required
Routine echo not recommended
ACEI/ ARB to start early
EXTRA RENAL MANIFESTATIONS OF
ADPKD
PULMONARY
Prevalence of bronchiectasis: 37%
Lower lobe involvement common
Majority remain asymptomatic
Routine screening not recommended
EXTRA RENAL MANIFESTATIONS OF
ADPKD
• Diverticular disease
Prevalence 40% ( same as general population)
Some studies show higher incidence of infection and
perforation
Screening colonoscopy not recommended
• Abdominal hernias
Prevalence 45% (25% inguinal)
Increased complications (incarceration/strangulation)
May affect RRT modality selection
Many prefer corrective surgery prior to transplantation
EXTRA RENAL MANIFESTATIONS OF
ADPKD
Fertility
Male fertility affected
Seminal vesicle cyst/ obstruction
Sperm immotility ( asthenozoospermia)
Preeclampsia more common