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.