CYSTIC KIDNEY DISEASES

1. Gold Medalist Miss Kiran Inam
MS HCM
BS Renal Dialysis
KMU IPMS

2. SIMPLE CYST
Cyst: fluid-filled sac that grows on the surface of, or within the kidney
Solitary or multiple
Cysts develop from any part of nephron, usually cortical
Incidental finding on U/S or IVU
Usually not loculated and tend to bulge out from renal surface
May grow to considerable size(>10cm)
Usually harmless
Occasionally require percutaneous drainage; because of persistent
loin pain

3. CYSTIC KIDNEY DISEASES
1. Polycystic kidney diseases
2. Cystic disease of renal medulla
i. Spongy kidney disease
ii. Medullary cystic disease

4. POLYCYSTIC KIDNEY DISEASE (PKD)
Polycystic kidney disease (PKD) is a genetic disorder that causes
many fluid filled cysts to grow in your kidneys.
Unlike the usually harmless simple kidney cysts that can form in the
kidneys later in life,
PKD cysts can change the shape of your kidneys, including making
them much larger.
PKD is a form of chronic kidney disease (CKD) that reduces kidney
function and may lead to kidney failure.
PKD also can cause other complications, or problems, such as high
blood pressure, cysts in the liver, and problems with blood vessels in
your brain and heart.

5. CONTI…

6. TYPES OF PKD
The two main types of PKD are
autosomal dominant PKD (ADPKD), which is usually diagnosed in
adulthood
autosomal recessive PKD (ARPKD), which can be diagnosed in the
womb or shortly after a baby is born

7. TYPES OF PKD
(ADPKD) is a multisystem disorder characterized by multiple, bilateral
renal cysts associated cysts in the other organs such as liver,
pancrease.
ADPKD is a genetic disorder mediated primarily by mutation in two
different genes and is expressed in an autosomal dominant
pattern,with variable expression.
(ARPKD) is less common as compared to ADPKD
The two major forms of polycystic kidney disease are distinguished by
their patterns of inheritance.
ADPKD(50:50 Chance) and ARPKD(1:4 Chance)

9. ADPKD
PKD – 1 gene located on chromosome 16 in over 85% cases ADPKD-1
PKD – 2 gene located on chromosome 4 in 15% cases ADPKD-2
PKD-1 related disease more severe than PKD-2 related disease

11. ETHIOLOGY AND PATHOPHISIOLOGY

12. PATHOPHISIOLOGY
The main feature of ADPKD is a bilateral progressive increase in the
number of cysts, which may lead to ESRD.
Defect on PKD1 and 2.
PKD1 and PKD2 are expressed in most organs and tissues of the
human body.
The proteins that are encoded by PKD1 and PKD2, polycystin 1 and
polycystin 2, seem to function together to regulate the morphologic
configuration of epithelial cells.
A decrease in urine-concentrating ability is an early manifestation of
ADPKD. The cause is not known. Plasma vasopressin levels are
increased; this increase may represent the body's attempt to
compensate for the reduced concentrating capacity of the kidneys
and could contribute to the development of renal cysts, hypertension,
and renal insufficiency

21. Who is more likely to have PKD?
PKD affects people of all ages, races, and ethnicities worldwide. The
disorder occurs equally in women and men.

22. CAUSES OF PKD
A gene mutation, or defect, causes PKD.
In most PKD cases, a child got the gene mutation from a parent.
In a small number of PKD cases, the gene mutation developed on its
own, without either parent carrying a copy of the mutated gene. This
type of mutation is called “spontaneous.”

23. SIGN AND SYMPTOMS OF PKD
The signs and symptoms of ADPKD, such as pain, high blood
pressure, and kidney failure, are also PKD complications. In many
cases, ADPKD does not cause signs or symptoms until your kidney
cysts are a half inch or larger in size.
Early signs of ARPKD in the womb are larger-than-normal kidneys
and a smaller-than-average size baby, a condition called growth
failure. The early signs of ARPKD are also complications. However,
some people with ARPKD do not develop signs or symptoms until
later in childhood or even adulthood.

25. CLINICAL FEATURE
ABD Pain.
Dull aching and an uncomfortable sensation of heaviness.
Hematuria
Proteinuria
Polyuria
Hypertension
Intracranial berry aneurysms
subarachnoid hemorrhages
Nodular hepatomegaly
Palpable, bilateral flank masses
pyelonephritis
Nephrolithiasis and renal colic
perinephric Hematoma

27. MORPHOLOGY
Gross Examination findings :
The kidneys are usually bilaterally ENLARGED and may achieve
enormous sizes; weights as high as 4 kg for each kidney have been
reported.
The external surface appears to be composed solely of a mass of cysts,
up to 3 to 4 cm in diameter, with no intervening parenchyma.
The cysts may be filled with a clear, serous fluid or, more usually, with
turbid, red to brown, sometimes hemorrhagic fluid.
Microscopic Findings
Microscopic Ex…reveals some normal parenchyma dispersed among
the cysts.
Atrophic lining seen.
Occasionally Bowman’ capsule are involved in cyst formation. In these
cases, glomerular tufts may be seen within the cystic space.
Ischemic atrophy of the intervening renal substance noted.

28. DIAGNOSIS
Routine laboratory studies include the following:
Serum chemistry profile, including calcium and phosphorus
CBC count from cysts
Urinalysis
Urine culture
Genetic testing may be performed, in which the major indication is for
genetic screening in young adults with negative
ultrasonography

29. MANAGEMENT
No specific medication is available for ADPKD. However,
pharmacotherapy is necessary to accomplish the following:
Control blood pressure: Drugs of choice are ACEIs or ARBs
Control abnormalities related to renal failure
Treat urinary tract infections
Treat cyst infections
Patients with ADPKD who progress to end stage renal disease may
require the following procedures:
Hemodialysis
Peritoneal dialysis
Renal transplantation

30. SURGICAL OPTION
Surgical intervention in ADPKD includes the following
Surgical drainage
Open-/fiberoptic-guided surgery
Nephrectomy
Partial hepatectomy
Liver transplantation