About PKD,types of pkd,Symptoms, complications,Diagnosis,treatment

1. Submitted by
NAVEEN KUMAR.Y
13-PML-04
Under the esteemed guidance
Dr. D.Carol
Dep.of MLT
Loyola college
Submitted to
Dr.D.Carol.
M.Sc., M.Phil., Ph.D.
Dep. Of MLT
LOYOLA COLLEGE

2. The kidneys are paired
organs that are located inside the small of the back.

3. RENAL CYSTS
1. Multicystic renal dysplasia
2. Polycystic kidney disease
a. Autosomal-dominant (adult) polycystic disease
b. Autosomal-recessive (childhood) polycystic disease
c. Acquired Cystic Kidney Disease (ACKD)
3. Medullary cystic disease
a. Medullary sponge kidney
b. Nephronophthisis
4. Acquired cystic disease
A. dialysis-associated
B. HYDATID CYST
C. TUBERCULOSIS
D. NEOPLASM ASSOCIATED
5. Localized (simple) renal cysts
6. Renal cysts in hereditary malformation syndromes (e.g., tuberous sclerosis, VHL)
7. Glomerulocystic disease
8. Extraparenchymal renal cysts
A. pyelocalyceal cysts
B. hilar lymphangitic cysts

5. CYST
• A fluid-filled sac
• LINED BY AN EPITHELIUM
• arising from a dilatation in any part of the nephron or
collecting duct

6. Polycystic kidney disease (PKD) is an inherited disorder in which
clusters of cysts develop primarily within kidneys. Cysts are
noncancerous round sacs containing water-like fluid. The cysts vary in
size and, as they accumulate more fluid, they can grow very large.
PKD may impair kidney function and cause kidney failure.
Definition
Hereditary disease characterized by cyst formation and massive
kidney enlargement by the growth of numerous cysts in the
kidneys
Increased cAMP promotes cyst growth and overall enlargement

7. There are three types of PKD.
Acquired Cystic Kidney Disease (ACKD)
Autosomal Dominant PKD (ADPKD)
Autosomal Recessive PKD (ARPKD)
ACKD is not inherited. It usually develops in patients who already
have other kidney problems. It is more common in those who
have kidney failure or are on dialysis.
PKD is a quiet genetically an transmitent in an autosomal dominant& recessive fashion

8. Autosomal Dominant PKD (ADPKD)
Autosomal dominant PKD is the most common inherited disorder of the kidney. There are 44 Autosomes &
2 sex chromosomes half of each is inherited from each parent.
Autosome=that a gene in question is locked on one of the no. on non sex chromosome
Dominant= the single copy of the disease associated mutation is to cause disease
The "autosomal dominant" for about 90 percent of PKD is due to mutation of Gene. if one parent has the disease,
there is a 50 percent chance that the disease gene will pass to a child is some times called as adult PKD.
In some cases-perhaps 10 percent-autosomal dominant PKD occurs spontaneously in patients. In these cases, neither
of the parents carries a copy of the disease gene.
Many people with autosomal dominant PKD live for several decades without developing symptoms. For this reason,
autosomal dominant PKD is often called "adult polycystic kidney disease." Yet, in some cases, cysts may form earlier
in life and grow quickly, causing symptoms in childhood.

9. ADPKD is characterized by progressive cyst development and bilaterally enlarged kidneys with multiple cysts.
The cysts formation occurs at a level of cell, out of nephrons, & the tiny filtering units inside the kidneys.
Under the function of gene defect, epithelial cells of renal tubule turn into epithelial cells of cyst wall
after phenotype change, and begin to have the function of secreting cyst fluid, which leads to continuous cysts
enlargement. which can number in the thousands-while roughly retaining their kidney shape.
ADPKD is caused by mutations of either the
PKD 1 / Polycystin-1
PKD 2 / Polycystin-2
PKD 3 not known

10. There are 23 pairs of chromosomes
85% of cases Mutation in PKD1 gene which is located on chromosome 16
15% of cases Mutation in PKD2 gene which is located on chromosome 4

11. Autosomal Recessive PKD (ARPKD)

12. Autosomal Recessive PKD (ARPKD)
ARPKD is much less common than ADPKD.
Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited childhood condition where the
development of the kidneys and liver is abnormal. Over time, either one of these organs may fail.
Autosomal recessive PKD is caused by a mutation in the autosomal recessive PKD gene, called PKHD1.
PKHD-Polycystic Kidney & Hepatic Disease
Mutation in PKHD1 gene which is located on chromosome 6
mutations in the PKHD1 gene lead to the formation of numerous cysts characteristic of polycystic kidney
disease.
People with this form of the condition have two altered copies of the PKHD1 gene in each cell.
People with ARPKD will not have symptoms unless they have two copies of a disease gene.

13. If only one parent carries the abnormal gene, the baby cannot get autosomal recessive PKD but could
ultimately pass the abnormal gene to his or her children.
Both parents must have abnormal genes to pass on this form of the disease. If both parents carry a gene
for this disorder, each child has a 25 percent chance of getting the disease.
Symptoms of autosomal recessive PKD begin in the earliest months of life, even in the womb.
There are four types of ARPKD:
 perinatal form (the disorder is present at birth)
 neonatal form (the disorder occurs within the first month of life)
 infantile form (the disorder occurs when the child is 3 to 6 months old)
 juvenile form (the disorder occurs after the child is 1 year old)

15. common symptoms
Pain in
the back
and
lover
sides Headaches
PKD
& High
blood
pressure
Urinary
tract
infections
&
Frequent
Hematuria urination
Blood in
the Urine
Loss of
kidney
function
Cysts in
the
kidneys
and other
organs

16. common symptoms (ARPKD)
Pain or
heavine
ss in the
back
ARPKD
High
blood
pressure
Urinary
tract
infectio
n (UTI)
frequent
urination

17. Complications of Polycystic Kidney Disease
 anemia (insufficient red blood cells)
 bleeding or bursting of cysts
 high blood pressure
 cysts on the liver and/or liver failure
 kidney stones
 recurrent urinary tract infections (UTIs)
 cardiovascular disease
 urinary tract infections-specifically, in the kidney cysts
 hematuria-blood in the urine
 liver and pancreatic cysts
 Abnormal heart valves
 high blood pressure
 kidney stones
 aneurysms-bulges in the walls of blood vessels-in the brain
 diverticulosis-small pouches bulge outward through the colon

18. Family Medical History (including genetic testing)
Routine laboratory studies include the following:
Serum chemistry profile, including calcium and phosphorus
CBC count from cysts &for anemia or signs of infection
Urinalysis looking for blood and/or protein
Urine culture
Uric acid determination
Intact PTH assay
Genetic testing may be performed, in which the major
indication is for genetic screening in young adults with
negative ultrasonography findings who are being considered
as potential kidney donors

19. Ultrasound
Imaging of
kidney cysts
Ultrasound
Imaging of cysts
in other organs
MRA
Abdominal CT
scan
Abdominal
MRI scan
Intravenous pyelogram
(IVP): a dye to make your
blood vessels show up
more clearly on an X-ray
Cerebral
angiography
Imaging studies

20. Staging
Staging of renal failure is by GFR, as follows:
 Stage 1: GFR above 90 mL/min
 Stage 2: GFR 60-90 mL/min
 Stage 3: GFR 30-60 mL/min
 Stage 4: GFR 15-30 mL/min
 Stage 5: GFR below 15 mL/min

21. PKD has no cure. Treatments
include:
 Medicine to control high blood
pressure
 Medicine and surgery to reduce
pain
 Antibiotics to resolve infections
 Dialysis to replace functions of
failed kidneys
 Kidney transplantation