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8/3/2019 Pathology & Mgt of Cystic KD-Tella
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SEMINAR PRESENTATION
PAEDIATRIC SURGERY UNITABUTH, ZARIA
4TH MAY 2010
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PATHOLOGY AND
MANAGEMENT OF RENAL
CYSTIC DISEASES
PRESENTER: TELLA A.O.
MODERATOR: PROF. AMEH
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OUTLINE
INTRODUCTION
CLASSIFICATION OF RENAL CYSTS
MECHANISMS OF CYST FORMATION
MANAGEMENT
- EVALUATION OF INDIVIDUAL CYST
- TREATMENT OPTIONS
ROLE OF GENETIC COUNSELLING
CONCLUSION
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INTRODUCTION
A fluid-filled sac arising from an abnormaldilatation in any part of the nephron orcollecting duct or,
Diverticulum-like structures possibly incontinuity with the nephron.
Gardner (1988) suggested that ductsdilated to four times their normal diameter
(i.e., 200 m) be called cysts. Renal cysts may develop by heritable,
developmental or acquired processes.
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EMBRYOLOGY
The human kidney develops from metanephroswhich consists of metanephric diverticulum orureteric bud and metanephric mesoderm.
Ureteric bud is an outgrowth from themesonephric duct and branches multiple timesto form the excretory system consisting of renalpelvis, calyces, and collecting tubules.
The metanephric mesoderm develop intonephrons.
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Cystic renal diseases represent renal dysplasia
which is characterized by architectural
disorganization of the kidney secondary toatresia or severe hypoplasia of the ipsilateral
excretory system.
It is believed that aberrant inductive interaction
between epithelial cells of the ureteric bud andsurrounding mesenchymal cells leads to
dysregulation of normal renal development.
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CLASSIFICATION OF RENAL
CYSTIC DISEASES
Several classifications have been
proposed.
In 1987 the Committee on Classification,Nomenclature and Terminology of the
AAP Section on Urology proposed a
classification system in which the primarydistinction is between genetic and non-
genetic disease.
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GENETIC NONGENETIC
ARPKD Multicystic kidney (multicystic dysplastic
kidney)
ADPKD Benign multilocular cyst (cystic
nephroma)
Juvenile Nephronophthisis - Medullary
cystic disease complex
Simple cysts
Congenital nephrosis (Familial nephrotic
syndrome) - AR
Medullary sponge kidney
Cysts assoc. with multiple malformation
syndromes
Sporadic glomerulocystic kidney disease
Familial hypoplastic glomerulocystic
disease - AD
Acquired renal cystic disease
Calyceal diverticulum ( Pyelogenic cyst)
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DISEASE KIDNEY SIZE CYST SIZE CYST LOCATION
ADPKD Always enlarged 1 mm 10 cm All
ARPKD Always enlarged In mm ( with age) All
MDK Always enlarged 1 mm 10 cm All
NPH Small 1 mm 2 cm Medullary
Simple renal cyst Normal 1 mm 10 cm All
Acquired cystic
renal disease
Mostly small 0.5 cm 2 cm All
Medullary sponge
kidney
Normal to enlarged In mm Precalyceal
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CYST FORMATION
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PATHOPHYSIOLOGY OF
CYST
Progressive enlargement: Stretching of renal capsule
Traction on renal pedicle Pressure on adjacent organs
Compression of renal vessels (renal
ischaemia R-A-Ald system activation
hyperytension)
Cyst rupture or haemorrhage
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Recurrent UTI
Urinary complications:
* Poor urine concentrating ability* Low urinary acidification metab.Acidosis
Calculi formation
Urinary obstruction
Progressive renal damage.
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EVALUATION - HISTORY
Age of the patient
Presenting problem:- Unilateral / Bilateral flank masses
- Pain (loin or abdominal)- Renal colic from passing clots- Infection (pyelonephritis)- Haematuria- Polyuria
- Uraemia- Hx of difficult delivery- May be stillborn- Respiratory distress in newborn
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PHYSICAL EXAMINATION
GENERAL:
- Anaemia
- Potters syndrome ( cleft lip, hypertelorism,pulm. Hypoplasia, spine/limb anomalies)
- Features of other congenital anomalies
REGIONAL:
- Head/Neck- Chest/CVS
- Abdomen ( mass, hepatomegaly)
- MSS
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INVESTIGATIONS
GENERAL:* FBC; *U/E/Cr; *Urinalysis
SPECIFIC:
* USS Highly sensitive; no radiation/contrastARPKD multiple small cysts with diffusely
hyper-echogenic kidneys.ADPKD US diagnosis depends on the age
MCDKmultiple non-communicating cysts ofvarying sizes in the absence of an identifiablerenal sinus or normal renal parenchyma withloss of reniform shape.
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USS:
- hepatic cysts & cysts in other organs
- Renal USS of the parents, siblings orgrandparents can also be helpful in ADPKD- Prenatal USS enlarged kidneys with
increased echogenicity
CT scan (contrast-enhanced):- Most sensitive
- Reveal cysts; calcifications
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IVU:
- Reveal calyceal distortion; renalenlargement
- Swiss-Cheese appearance may be seen
RENAL ARTERIOGRAPHY:
- Stretching of renal vessels
MRI
Radionuclide (DMSA) scan
MCUG to evaluate for VUR
Skeletal survey
Cranial USS
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AUTOSOMAL DOMINANT
POLYCYSTIC KIDNEY DISEASE
Most frequent inherited kidney disease
It is caused by mutations in at least threedifferent genes:
PKD, the gene responsible in 85% of thepatients, located on chromosome 16, &encodes polycystin 1
PKD, located on chromosome 4 andencodes polycystin 2-- PKD, rare and unmapped
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Also presents with hepatic cysts (33%)
and other extrarenal cysts.
Aneurysm of the circle of Willis (10-40%)
Natural history:* 1st decade Normal renal function* 10-30 yrs Presence of cysts but no sympt.
* 30-40 yrs Symptomatic
* 50 yrs Death w/o dialysis
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MANAGEMENT:1) General measures
- Bed rest; Analgesics- Low protein/lown sodium diets- Treat infections (avoid
instrumentation)
2) Cyst decompression:- UT obstruction- Infections- Intractable pain
3) Segmental renal artery embolization orpercutaneous nephroscopic balloonocclusion
- cyst haemorrhage
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ESWL:
- Associated calculi disease Renal Replacement Therapy:
- Dialysis
- Renal Transplantation
Nephrectomy:* As life-saving or pre-transplant procedure
* IndicationsMassive cyst haemorrhage
Severe recurrent pyelonephritis
Large kidney compressing IVC or
precluding placement of renal allograft
Associated Renal cell carcinoma
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AUTOSOMAL RECESSIVE
POLYCYSTIC KIDNEY DISEASE
Non-obstructive dilatation / ectasia of the
collecting tubules in the renal medulla
Results in microcysts of 1-2mm
Severity proportional to percentage of nephrons
affected by cysts
Hepatic involvement
cysts, fibrosis, and portalhypertension (congenital hepatic fibrosis)
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Incidence 1:20,000
Typically presents in infancy
Neonatal presentation profound respiratorycompromise 2 to oligohydramnios
Clinical manifestations: hyponatremia during firstwks of lifereduced renal conc. ability, urinaryacidification capacity, metabolic acidosis,
recurrent pyuria.
Hypertension is common and early
ESRD usually after 15 yrs of age
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MULTICYSTIC DYSPLASTIC KIDNEY
Consists of a collection of cysts frequentlydescribed as resembling a bunch of grapes
Severe formkidney consists of a group of cysts
with some connective tissue, but no identifiablerenal tissue
No function can be demonstrated
Only unilateral involvement is compatible with
life
Usually, the contralateral kidney is normal andexhibits compensatory hypertrophy
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Reported in a variety of syndromes e.g
Beckwith-Wiedemann, Trisomy 18, VACTERL
USS every 6-12 months until age 5 orinvolution
Role of nephrectomy controversial:
Recommended to treat or prevent
abdominal/flank pain, UTI, hypertension, or renalmalignancy
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JUVENILE NEPHRONOPHTHISIS/
MEDULLARY CYSTIC DISEASE
COMPLEX
Juvenile Nephronophthisis (JN):
Usually autosomal recessive
3 types: juvenile (NPH1), adolescent (NPH2),infantile (NPH3) genes
Mean age at presentation is 13 with renal failure Medullary Cystic Disease:
Usually autosomal dominant Older age at presentation (20-40)
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Presentation:
Polyuria due to inability to conserve sodium sosalt restriction not indicated in these patients
Salt losing nephropathyAssociated with retinal disorders (retinitispigmentosa), skeletal abnormalities, hepaticfibrosis.
Histology:
Interstitial nephritis leading to atrophy Cysts : 85% with MCD vs 40% with JN Cysts at cortico-medullary jxn (cysts 0.5cm)
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MULTIPLE MALFORMATION
SYNDROMES WITH RENAL CYSTS
Autosomal dominant:
von Hippel Lindau VHL gene on Cr 3
Tuberous Sclerosis TSC1 on Cr 9 or TSC2on Cr 16
Autosomal recessive:
Meckels Syndrome
Jeunes AsphyxiatingThoracic Dystrophy Zellwegers
(Cerebrohepatorenal)Syndrome
X-linked Dominant
OrofaciodigitalSyndrome I
Chromosomal
Disorders
Trisomy 13 (Patau) Trisomy 18 (Edward) Trisomy 21 (Down)
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ACQUIRED RENAL CYSTIC
DISEASE
Characterised by development of many cysts in thesetting of CRF
The prevalence of ACKD averages 10% at onset ofdialysis & subsequently increases, to reach 60%and 90% at 5 and 10 years into hemodialysis andperitoneal dialysis
The cysts develop predominantly in the cortex,although the medulla may be affected, and areusually bilateral
It consists of hyperplastic renal cysts and frequentlyadenomas; either can progress to RCC within 10 yrsof starting dialysis
The cysts usually regress with transplantation
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SIMPLE RENAL CYSTS
Simple cysts are seldom seen in children
A simple benign cyst on USS should have a
sharply defined, thin distinct smooth wall, bespherical or oval with no internal echoes, andhave good transmission of sound waves withacoustic enhancement behind the cyst.
When these criteria are not met, CT withcontrast medium enhancement needs to bedone.
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BOSNIAK CLASSIFICATION OF
INCIDENTAL RENAL CYSTS
Category I Simple benign cyst with (1) good through- transmission (i.e., acoustic
enhancement), (2) no echoes within the cyst, (3) sharply, marginated
smooth wall; requires no surgery.
Category
II
Looks benign with some radiologic concerns including septation,
minimal calcification, and high density; requires no surgery.
Category
II F
Although calcification in wall of cyst may even be thicker and more
nodular than in category II, the septa have minimal enhancement,
especially those with calcium; requires no surgery.
Category
III
More complicated lesion that cannot confidently be distinguished from
malignancy, having more calcification, more prominent septation of a
thicker wall than a category II lesion; more likely to be benign than
malignant; requires surgical exploration and/or removal.
Category
IV
Clearly a malignant lesion with large cystic components, irregular
margins; solid vascular elements; requires surgical removal.
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ROLE OF GENETIC
COUNSELLING
The recurrence risk of cystic renal disease in
subsequent pregnancies will depend on the
etiology in the index patient and the presenceor absence of an associated syndrome.
The recurrence risk in a family with an infant
with ARPKD is 25%.
If a parent is affected with ADPKD, the risk of
ADPKD in a subsequent pregnancy is 50%,
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Families at risk for congenital renal cystic
disease should have DNA analysis prior to
contemplating a future pregnancy toidentify the genetic mutation so a prenatal
DNA diagnosis can be offered.
Prenatal USS is very useful in prenataldiagnosis.
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CONCLUSION
The outcome of cystic renal diseases is
related to the underlying diagnosis, extent of
renal insufficiency, assoc. pulmonary
hypoplasia, and other extrarenal congenitalanomalies.
Adequate clinical evaluation with
individualized treatment strategy will helpprolong survival of patients.
Genetic counselling can help prevent these
conditions in at-risk families.