CYSTIC DISEASES OF KIDNEY

• may be congenital or acquired,

• non-neoplastic or neoplastic.
• Majority of these lesions are congenital non-
neoplastic
• at any age,
• from foetal life to old age.
 Clinical presentation
• abdominal mass,
• infection,
• respiratory distress (due to accompanied
pulmonary hypoplasia),
• haemorrhage, and neoplastic transformation
• Potter divided developmental renal cystic
lesions into three types—I, II and III.
 Multicystic Renal Dysplasia
• Potter type II is used for disorganised
metanephrogenic differentiation with
persistence of structures in the kidney which
are not represented in normal nephrogenesis.
 Multicystic Renal Dysplasia
• most common form of cystic renal disease in
the newborn and infants.
• occur sporadically or maybe familial and part of
a syndrome of other anomalies.
• commonly associated with obstructive
abnormalities of the ureter and lower urinary
tract such as obstruction of pelviureteric
junction (PUJ), ureteral atresia and urethral
obstruction
 Multicystic Renal Dysplasia
• MORPHOLOGIC FEATURES.
• unilateral or bilateral.
• may involve the entire renal mass or a part of it.
• always cystic.
• replaced by disorderly mass of multiple cysts resembling a
bunch of grapes.
• Normal renal parenchyma is almost totally obscured by the
mass
• while calyces and pelvis may not be recognised.
• ureter is invariably abnormal, being either absent or atretic.
 Multicystic Renal Dysplasia
• presence of undifferentiated mesenchyme that
contains smooth muscle, cartilage and
immature collecting ducts.
• The cysts in the mass represent dilated tubules
lined by flattened epithelium which are
surrounded by concentric layers of connective
tissue .
• Glomeruli and tubules are scanty, primitive or
absent
Multicystic Renal Dysplasia
Multicystic Renal Dysplasia
 Multisystem Renal Dysplasia
• CLINICAL FEATURES.
• Unilateral renal dysplasia is frequently
discovered in newborn or infants as a flank
mass.
• associated with other congenital malformations
and syndromes such as ventricular septal
defect, tracheo-esophageal fistula, lumbosacral
meningomyelocele and Down’s syndrome.
 Multisystem Renal Dysplasia
• The prognosis of unilateral renal dysplasia
following removal of the abnormal kidney is
excellent
• while bilateral renal dysplasia results in death
in infancy unless renal transplant is done.
Polycystic Kidney Disease Polycystic disease
of the kidney (PKD)
• major portion of the renal parenchyma is
converted into cysts of varying size.
• two forms:
• A. An adult type inherited as an autosomal
dominant disease; and
• B. An infantile type inherited as an autosomal
recessive disorder.
 ADULT POLYCYSTIC KIDNEY DISEASE
• relatively common (incidence 1:400 to 1: 1:1000)
• is the cause of end-stage renal failure in
approximately 4% of haemodialysis patients.
• autosomal dominant with mutation in PKD gene:
mutation in PKD-1 gene located on chromosome
16 in over 85% cases (ADPKD-1) while remainder
15% cases have mutation in PKD-2 gene located
on chromosome 4 (ADPKD-2).
 ADULT POLYCYSTIC KIDNEY DISEASE

• Family history of similar renal disease may be

present.
• true adult polycystic renal disease is always
bilateral and diffuse.
• Though the kidneys are abnormal at birth,
renal function is retained,
• symptoms appear in adult life,
• mostly between the age of 30 and 50 years.
 ADULT POLYCYSTIC KIDNEY DISEASE
• MORPHOLOGIC FEATURES.
• always bilaterally enlarged, usually symmetrically, heavy (weighing
up to 4 kg)
• lobulated appearance on external surface due to underlying cysts .
• The c/s shows cysts throughout the renal parenchyma varying in
size from tiny cysts to 4-5 cm in diameter .
• The contents of the cysts vary from clear straw-yellow fluid to
reddish-brown material.
• The renal pelvis and calyces are present but are greatly distorted by
the cysts and may contain concretions .
• The cysts, do not communicate with the pelvis of the kidney
ADULT POLYCYSTIC KIDNEY DISEASE
ADULT POLYCYSTIC KIDNEY DISEASE
 ADULT POLYCYSTIC KIDNEY DISEASE
• Histologically,
• the cysts arise from all parts of nephron.
• some cysts containing recognisable glomerular
tufts reflecting their origin from Bowman’s
capsule,
• others have epithelial lining like that of distal or
proximal tubules or collecting ducts.
• The intervening tissue between the cysts shows
some normal renal parenchyma.
 ADULT POLYCYSTIC KIDNEY DISEASE

• With advancement of age of the patient,

acquired lesions such as pyelonephritis,
nephrosclerosis, fibrosis and chronic
inflammation are seen.
 ADULT POLYCYSTIC KIDNEY DISEASE
• CLINICAL FEATURES.
• clinically apparent at any age
• most commonly manifests in 3rd to 5th decades of
life.
• dull-ache in the lumbar regions.
• haematuria or passage of blood clots in urine,
renal colic, hypertension, urinary tract infections
and progressive CRF with polyuria and proteinuria.
•
 ADULT POLYCYSTIC KIDNEY DISEASE
• About a third of patients with ADPKD have cysts
of the liver .
• Other associated congenital anomalies are cysts in
the pancreas, spleen, lungs and other organs.
• Approximately 15% of patients have one or more
intracranial berry aneurysms of the circle of Willis.
• Any acquired renal disease is more prone to occur
in polycystic kidneys
INFANTILE POLYCYSTIC KIDNEY DISEASE
• The infantile (autosomal recessive) form of polycystic kidney disease
(ARPKD) is distinct from the adult form and is less common
(incidence 1:20,000 births).
• autosomal recessive trait
• the family history of similar disease is usually not present.
• mutation in chromosome 6—6p21, PKHD1 (polycystic kidney and
hepatic disease 1).
• invariably bilateral.
• The age at presentation may be perinatal, neonatal, infantile or
juvenile,
• frequently serious manifestations are present at birth
• and result in death from renal failure in early childhood.
INFANTILE POLYCYSTIC KIDNEY DISEASE
• MORPHOLOGIC FEATURES.
• Grossly, the kidneys are bilaterally enlarged with smooth
external surface and retained normal reniform shape.
• Cut surface reveals small, fusiform or cylindrical cysts
radiating from the medulla and extend radially to the
outer cortex.
• gives the sectioned surface of the kidney sponge-like
appearance .
• No normal renal parenchyma is grossly recognised.
• Pelvis, calyces and ureters are normal.
INFANTILE POLYCYSTIC KIDNEY DISEASE

• the cysts are formed from dilatation of

collecting tubules, all the collecting tubules
show cylindrical or saccular dilatations and are
lined by cuboidal to low columnar epithelium.
• Many of the glomeruli are also cystically
dilated.
INFANTILE POLYCYSTIC KIDNEY DISEASE
INFANTILE POLYCYSTIC KIDNEY DISEASE
INFANTILE POLYCYSTIC KIDNEY DISEASE
• CLINICAL FEATURES.
• Depend upon age of the child.
• In severe form, the gross bilateral cystic renal
enlargement may interfere with delivery.
• In infancy, renal failure may manifest early.
• associated multiple epithelium-lined cysts in the liver or
proliferation of portal bile ductules.
• In older children, associated hepatic changes develop
congenital hepatic fibrosis
• may lead to portal hypertension and splenomegaly.