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Renal cystic disease -2
1. ARPKD AND OTHER CYSTIC
DISEASES OF KIDNEY
Dept of Urology
Govt Royapettah Hospital and Kilpauk Medical College
Chennai 1
2. Moderators:
Professors:
• Prof. Dr. G. Sivasankar, M.S., M.Ch.,
• Prof. Dr. A. Senthilvel, M.S., M.Ch.,
Asst Professors:
• Dr. J. Sivabalan, M.S., M.Ch.,
• Dr. R. Bhargavi, M.S., M.Ch.,
• Dr. S. Raju, M.S., M.Ch.,
• Dr. K. Muthurathinam, M.S., M.Ch.,
• Dr. D. Tamilselvan, M.S., M.Ch.,
• Dr. K. Senthilkumar, M.S., M.Ch.
Dept of Urology, GRH and KMC,
Chennai.
2
3. INDRODUCTION
•Gardner suggested that ducts dilated up to
4 times (200 Um) are called cysts.
•Cyst is the widened area of nephron,
diverticulum or isolated sac.
•Kidney is one of the most common site in
the body for cysts.
•Although the cysts appear in various
diseases , their number, location & clinical
features are different.
3
Dept of Urology, GRH and KMC,
Chennai.
4. • Most renal cysts arise from nephrons or
collecting ducts after they are formed
• exception - Multicystic dysplasia
• Cysts may appear unilaterally or bilaterally
,congenital or acquired, diffusely or one
segment only.
4
Dept of Urology, GRH and KMC,
Chennai.
6. BILATERAL RENAL CYSTIC DISEASE
• D/D Include ARPKD, ADPKD, Tuberous
sclerosis, VHL disease, bilateral simple cysts &
ARCD.
• In ARPKD cysts appear from in utero to 20
years.
• In ADPKD cysts appear in utero to 4th decade.
• In VHL & tuberous sclerosis cysts appear before
the age of 30.
• Bilateral simple cysts appear after the age of 35
• In ARCD cysts may appear after ESRD. 6
Dept of Urology, GRH and KMC,
Chennai.
7. USG D/D OF B/L LARGE CYSTIC KIDNEYS
HOMOGENOUS
HYPERECHOGENIC
KIDNEYS WITHOUT
MACROCYSTS
DIFFUSE MACROCYSTS
ARPKD (characteristic)
ADPKD (atypical)
Sporadic glomerulo cystic
kidney disease
Contrast nephropathy
Renal vein thrombosis
ARPKD (atypical)
ADPKD (Characteristic)
Tuberous Sclerosis
7
Dept of Urology, GRH and KMC,
Chennai.
8. ARPKD
• Rapid, symmetrical and bilateral
enlargement of the kidneys in infants
secondary to collecting duct cyst
• Spectrum of severity
• MOST SEVERE FORM - EARLIESGT IN
LIFE
• if not apparent at birth - become apparent later
in childhood (upto 13 years ) or rarely upto 20
years
8
Dept of Urology, GRH and KMC,
Chennai.
9. • 1 in 10000 - 50000 live births
• 50% affected new borns die in first few
hours
• 50% alive at 10 yrs age
• All have congenital hepatic fibrosis
9
Dept of Urology, GRH and KMC,
Chennai.
11. • siblings of either sex have 1 in 4 chances
being affected.
• Mutations of single gene PKHD1 on chr 6
(6p12)
• Polyductin or fibrocystin protein
• Abundant in fetal collecting ducts
(regulation of cell ploliferartion, adhesion
and repulsion )
• dysfunction of primary cilia of renal
epithelial cell
11
Dept of Urology, GRH and KMC,
Chennai.
12. • strong suspicion - reffered for genetic
evaluation and counselling
• To make diagnosis -family H/O of 3
generations is essential
12
Dept of Urology, GRH and KMC,
Chennai.
13. CLINICAL FEATURES
• Earlier onset- more severe disease
• enlarged, echogenic kidneys in utero
• Oligohydramnios
• Potter’s facies
• Respiratory distress due to pulmonary
hypoplasia
13
Dept of Urology, GRH and KMC,
Chennai.
16. Clinical Course
• who survive the neonatal period -have
milder form of disease and likely to survive
into adulthood
• major manifestation - HTN / respiratory
failure
• Consequences of CRF - growrh failure,
anemia, osteodystrophy
16
Dept of Urology, GRH and KMC,
Chennai.
17. • Disease later in life -slower progression-
renal failure and htn develop slowly
• liver disease is cause of morbidity
portal hypertension
hepatosplenomegaly
esophageal varices
17
Dept of Urology, GRH and KMC,
Chennai.
32. • EXCRETORY UROGRAPHY
• inhomogenous streaking in the medulla
as a result of accumulation of contrast
material in the collecting system
• CT/MRI - more sensitive for detecting
small medullary and corticomedullary cyst
32
Dept of Urology, GRH and KMC,
Chennai.
33. TREATMENT
• JNPH - Supportive
• Sodium replacement early - sodium
wasting, volume contraction & renal
azotemia
• hemodialysis
• Transplantation- if siblings chosen - older
and subjected to meticulous diagnostic
evaluation
33
Dept of Urology, GRH and KMC,
Chennai.
34. CONGENITAL NEPHROSIS
• It consist of two types, Finish type (CNF) &
Diffuse mesangial sclerosis (DMS).
• CNF is associated with huge kidneys &
large placenta at birth (25% of body
weight).
• DMS may associated with Drash
Syndrome 1/3 ( nephrotic syndrome,
wilm’s tumor & male
pseudohermaphroditism)
34
Dept of Urology, GRH and KMC,
Chennai.
35. • Both have proteinuria & dilated PCT.
• Interstritil fibrosis + in both but more
promounced in DMS
• All children had terminal RF at the age of 3
years.
• no responce to corticosteroids
• Transplantation is curative
35
Dept of Urology, GRH and KMC,
Chennai.
36. Familial hypoplastic glomerulocystic
kidney disease ( cortical microcystic
disease )
• AD
• Diagnostic features
1.stable or progrssive CRF
2.small or normal size kidneys with irregular
calyceal outlines and abnormal pappilae
3.2 generation affected
4.histologic evidence of glomerular cyst
36
Dept of Urology, GRH and KMC,
Chennai.
37. TUBEROUS SCLEROSIS
• It is a AD condition which includes triad of
epilepsy ,mental retardation & adenoma sebaceum.
• It is associated with renal cysts 20%, AML 40% &
RCC 2%.
• Two genes TSC1 on chromosome 9 & TSC2 in
chromosome 16 are responsible for AD
transmission.
• renal cyst often present before 3 years
• 1/3 first year of life & may be the presenting
manifestation
• The renal cysts are lined by hypertrophic &
hyperplasic eosinophilic cells.
• usually no renal compromise unless large cyst or
widespread involvement 37
Dept of Urology, GRH and KMC,
Chennai.
38. • when severe polycystic kidneys are present in
infants with tuberous sclerosis, the condition
may represent contiguous gene
syndrome( TSC2 & PKD1 defect).
• therefore TSC should be considered in children
with renal cysts and no family history of PKD
• Renal disease is the leading cause of death if
the patient survives CNS lesions.
38
Dept of Urology, GRH and KMC,
Chennai.
39. RADIOLOGY
• USG- Both AML and cyst coexist .....fluffy
white & sonolucent appearence
• CT - Sensitive
39
Dept of Urology, GRH and KMC,
Chennai.
42. VON HIPPEL LINDAU DISEASE
• VHL is AD
• characterized by cerebellar & retinal
hemangioblastomas, cysts in pancreas, kidney &
epididymis(76%) , epididymal cyst adenoma,
pheochromocytoma(10%) & clear cell
RCC(50%).
• The gene associated with VHL is located at
chromosome 3 ( Tumour suppressor gene)
• The mean age at presentation is 35 to 40 years.
42
Dept of Urology, GRH and KMC,
Chennai.
43. • renal cysts are most common & often
earliest manifestation - 76%
• When present the tumors and cysts are
bilateral & multiple.
• The management is conservative surgery.
43
Dept of Urology, GRH and KMC,
Chennai.
44. MULTICYSTIC DYSPLASTIC KIDNEY
• It is the m/c type of renal cystic disease &
second m/c cause of abdominal mass in infants.
• multiple cyst of varying sizes, without identifiable
normal renal parenchyma
• nonfunctional affected kidney but contralateral
kidney is normal exhibit compensatory
hypertrophy
• kidney lost reniform shape
44
Dept of Urology, GRH and KMC,
Chennai.
45. BUNCH OF GRAPES APPEARENCE
Kidneys usually get smaller or disapper later ( renal aplasia) 45
Dept of Urology, GRH and KMC,
Chennai.
46. 1) Infundibulopelvic type - involves both
renal pelvis and ureter
2) Hydronephrotic type - upper ureter atretic
Both - ureter absent/ atretic and renal
vessels hypoplastic
Association - Ureterocele, duplex kidney,
horseshoe kidney 46
Dept of Urology, GRH and KMC,
Chennai.
47. ❖ Obstructive theory - Extreme form of
obstructive hydronephrosis secondary to
atresia of ureter or renal pelvis
❖ Ureteric bud theory - failure of the union
b/w the ureteric bud and the metanephric
blastema leads to cystic dilatation in latter
47
Dept of Urology, GRH and KMC,
Chennai.
48. • Incidence - 1:1000 to 4000 LB
• Male preponderence ( 55-70%)
• contralateral abnormality PUJO : 3-12%, VUR :
18-43%
• natural history- benign , 40 % spontaneous
involution
• The patients need to be monitored for HT ,UTI,
willms tumour or RCC 48
Dept of Urology, GRH and KMC,
Chennai.
51. MULTICYSTIC KIDNEY
• Hafhazard
distribution of cyst
• without larger
central/medial cyst
• no visible
communication b/w
cyts
• small cysts amongs
large cyst
PUJO
• cyst organise around
periphery of kidney
• larger central/medial
cyst
• communication b/w
peripheral and central
cyst
• absence of small cyst
among large cyst 51
Dept of Urology, GRH and KMC,
Chennai.
52. ❖ISOTOPE SCAN ( DMSA/MAG3)
Show some function in Hydronephrotic kidneys
while seldom in dysplastic kidneys
❖ANGIOGRAPHY
small or absent renal a.
❖CYSTOSCOPY
hemitriagone & absent uretric orifice on affected
side if present retrograde urography -
ureteral atresia
52
Dept of Urology, GRH and KMC,
Chennai.
53. Treatment
• There is no clear indication for removal of
affected kidney
• Indications of intervention
1.increased amount of solid tissue
2.bulk is iconvenient
3.associated hypertension
4.cyst rupture ( spontaneous/ trauma )
53
Dept of Urology, GRH and KMC,
Chennai.
54. BENIGN MULTILOCULAR CYST
(CYSTIC NEPHROMA)
• cystic neoplasm in kidney
• falls in spectrum of disease along with
multilocular cyst with partially differentiated
willms tumour, a multilocular cyst with nodules of
willms tumour or cystic willms tumour
• controversy: segmental form of renal dyplasia,
hamartomatous malformation , neoplastic disease
• cause of confusion
1.apearence of primitive stroma
2.maturity of tubular or muscle element
3.degree of epithelial atypia 54
Dept of Urology, GRH and KMC,
Chennai.
55. CLINICAL FEARURES
• May before 4 years of age (97 % ) ---male
2x or after 30 years-----female 8x
• children - asymptomatic flank mass
• adult - flank mass, pain, hematuria
(herniation of cyst into renal pelvis)
55
Dept of Urology, GRH and KMC,
Chennai.
56. HISTOPATHOLOGY
• Bulky lesion circumscribed by thick capsule
( compression of normal parenchyma )
• extension into perinephric space or renal pelvis
• loculi vary in size , do not communicate
• contains clear, straw coloured or yellow fluid
lined by cuboidal or columanar epithelium
• Hobnail appearence- eosinophilic cuboidal cells
projects into cyst lumen
56
Dept of Urology, GRH and KMC,
Chennai.
57. EVALUATION
• USG - Multiple cysts
• CECT/MRI - Smooth outlined mass with fine
septa
• USG & CT can distinguish b/w multicystic
kidneys & multilocular cyst but neither reliable to
distinguish b/w multilocular cyst, multilocualr cyst
with foci of willms tumour or adenocarcinoma,
mesoblastic nephroma, cystic willms tumour &
clear cell sarcoma
57
Dept of Urology, GRH and KMC,
Chennai.
59. SIMPLE CYST
• M/C cystic lesion found in the kidney
• round/oval, solitaty/multiple, u/l or b/l
• filled with plasma like clear or straw colour
fluid
• originate initially from part of nephron but
not connected to its
• incidence
20 %- 20 yrs
40 % - 50 yrs
59
Dept of Urology, GRH and KMC,
Chennai.
60. clinical features
• detected incidentally
• pain, mass or hematuria
• hypertension secondary to segmental
ischamia
• can cause calyceal or renal pelvic
onstruction
• c/f calyceal diverticula (lining)
60
Dept of Urology, GRH and KMC,
Chennai.
61. HISTOPATHOLOGY
• variation in size < 1 cm to 10 cm
• fibrous wall with no renal elements
• lined by single layer of flattened or cuboidal
epithelium & filled with clear fluid
• location - mostly cortical , distort the renal
contour but may be deep cortical or medullary in
origin without PCS communication
• wall - thin/ transparent but may be thickened , 61
Dept of Urology, GRH and KMC,
Chennai.
62. EVALUATION
• USG criteria
1. absence of internal echos
2. presence of sharply defined, thin distinct wall
with a smooth and distinct margin
3. good transmission of sound waves through the
cyst with consequent accoustic enhancement
behind the cyst
4. spherical or slightly ovoid in shape
62
Dept of Urology, GRH and KMC,
Chennai.
64. • CT CRITERIA
1.sharp, thin, distinct smooth wall and margin
2.spheric or ovoid shape
3.homogenous content
• Density: -10 to + 20 HU ( water )
• No enhancement after contrast
• when cyst is hyperdence ( HU 20-90 ) still simple
cyst if above criteria met without contrast
enhamcement
• calcification 2% ( cf RCC 10% more central)
64
Dept of Urology, GRH and KMC,
Chennai.
66. treatment
• asymptomtic - no t/t
• infected cyst - drainage and AB
• obstruction / hypertension - unroofing or sx,
percutaneous aspiration ( glucose , phenol,
bismuth phosphate, absolute alcohol)
66
Dept of Urology, GRH and KMC,
Chennai.
67. MEDULLARY SPONGE KIDNEY
(Precalyceal canalicular ecatasia)
• Incidence -1: 200 (calcium stone formers)
• Acquired or AD (RET/GDNF interface disruption)
• Characteristics - tubular dilatation of distal
portion of CT with numerous ass cysts &
diverticula strictly confined to medullary
pyramids
• IVP - Bristle on brush / bouquet of flower
67
Dept of Urology, GRH and KMC,
Chennai.
69. CLINICAL FEATURES
• Benign ( asymptomatic & undetected )
• renal colic ( 50-60%), UTI (10-18), Gross
hematuria (10-18%)
• 1/3 TO 1/2 - Hypercalciuria.....incidence in stone
formers -2.6 to 21 % ( F>M).....m/c caox or
capo4
• a/w - hemihypertrophy, beckwith-wiedemann
syndrome,Ehler-danlos syndrome, anodontia,
caroli disease 69
Dept of Urology, GRH and KMC,
Chennai.
70. • 3 different pictures of MSD
Typical form
recurrent calcium nephrolithiasis
concomittant tubulat defects (RTA/
METABOLIC STONE DISEASE
INDOLENT FORM
No/ Few renal stone
no tubular defect
Rare/ more severe form
intractable excruciating pai
70
Dept of Urology, GRH and KMC,
Chennai.
71. histopathology
• dilated intrapappilary collecting ducts and small
medullary cyst (1-8 mm) & give the cross section
of kidney the appearence of sponge
• precalyceal canalicular ectasia involving renal
pappila
• cyst lined by CD epithelium and communicate
with collecting tubules
71
Dept of Urology, GRH and KMC,
Chennai.
72. DIAGNOSIS
• Urographic features
1.enlarged kidney with calcification particularly in
the pappila
2.elongated pappilary tubules or cavities that fills
with contrast material
3.pappilary contrast blush and persistent
medullary opacification
• rule out
ADPKD
OTHER NEPHROCALCINOTIC CONDITION
72
Dept of Urology, GRH and KMC,
Chennai.
73. TREATMENT
• MANAGEMENT OF STONE
Fluid intake
thiazide diuretic
inorganic phosphates ( exclude uti)
• INFECTION
73
Dept of Urology, GRH and KMC,
Chennai.
74. ACRD
• Bilateral cystic renal change in patient with
ESRD from causes other than inheritabel renal
cystic diseases
• min 3 cysts for diagnosis
• prevalence & severity increases with duration of
azotemia & subsequent need for dialysis
• INCIDENCE..... 3X M > F
10 % - ESRD before dialysis
60 % - 5 yr postdialysis
> 90 % - > 10 yrs postdialysis
74
Dept of Urology, GRH and KMC,
Chennai.
75. ETIOLOGY
❖ TUBULAR OBSTRUCTION - fibrosis, oxalate
crystals, vascular occlusion, ischamia
❖Role of TOXINS -
1. cyst /adenomas multiple , bilateral - induced
experimentally in rats
2. regression of cyst after transplantation
3. if transplantation fails & dialysis resumes -
return of cyst
❖accumulation of growth factors/EGF/ Stimulatory
chemicals
❖Renotrophic agent --- hyperplasia remaining
glomeruli and cyst formation 75
Dept of Urology, GRH and KMC,
Chennai.
76. clinical features
• most asymptomatic
• m/c presentation loin pain, hematuria (cyst
repture)
• incidence of renal neoplasm - 5-50 %
• RCC A/W ARCD - younger age,male, bilateral,
multicentric, less aggresive, approx 20 %
metastasizes vs sporadic RCC(50%)
• Risk factors for tumour developement----- male
gender, duration of dialysis, kidney weight, Not
type of dialysis
76
Dept of Urology, GRH and KMC,
Chennai.
77. HISTOPATHOLOGY
• Both kidneys usually smaller
• multiple bilateral cyst predominantly in cortex
• avr size - 0.5-1 cm may reach 5 cm
• contains clear, straw colored or gelatenous fluid
with frequent bleeding /neoplastic transformation
• lined by single layer of epithelium or hyperplastic
lining with secondary changes of luminal
degenerated blood, hemosiderin or caox crystals
77
Dept of Urology, GRH and KMC,
Chennai.
78. EVALAUTION
• USG - small, hyperechoic kidneys with
cyst of varying size, cyst wall calcification
• contrast CT - AVOID (futher deterioration
RF )
• MRI - with CAUTION (NSF)
78
Dept of Urology, GRH and KMC,
Chennai.
80. calyceal diverticula
( pyelogenic cyst )
• outpouching of collecting system into
corticomedulllary region
• usually arises from fornix of calyx
• transitional epithelial lined, smooth walled,
spheric cavity that communicate with the PCS by
a thin channel or neck typically in upper or lower
pole
• cause - congenital , trauma, obstruction of
calyceal infundibulum
• usually asymptomatic likely pain and hematuria
may be d/t stone formation
80
Dept of Urology, GRH and KMC,
Chennai.
81. parapelvic and renal sinus cyst
• parapelvic- derived from renal
parenchyma
• renal sinus cyst -derived from renal sinus
structure
• benign ( 15-20% -Autopsy )
• mechanism - not known
• most often multiple and bilateral
81
Dept of Urology, GRH and KMC,
Chennai.
82. • predominant type - dilatation of lymphatic
• 5/6 deades and usually asymptomatic
• usually discovered incidenatally
• rarely - obstruction of collecting system
• usg - multiple echo free areas in the region of
renal pelvis ( c/f hydronephrosis)
• CT - attenuation value of water, seen within
renal sinus as they displaces the calyces
peripherally
• DD - Sinus lipomatosis, lymphoma, hemorrhage,
urinoma
• management - conservative 82
Dept of Urology, GRH and KMC,
Chennai.