Polycystic Kidney Disease(PKD)

Submitted byNAVEEN KUMAR.Y13-PML-04

Under the esteemed guidanceDr. D.CarolDep.of MLTLoyola college

Submitted toDr.D.Carol.

M.Sc., M.Phil., Ph.D.Dep. Of MLTLOYOLA COLLEGE

The kidneys are pairedorgans that are located inside the small of the back.

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

CYST • A fluid-filled sac

• LINED BY AN EPITHELIUM

• arising from a dilatation in any part of the nephron or collecting duct

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

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.

Acquired Cystic Kidney Disease (ACKD)

There are three types of PKD.

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

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.

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.

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.

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

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.

PKD 1 / Polycystin-1PKD 2 / Polycystin-2PKD 3 not known

ADPKD is caused by mutations of either the

There are 23 pairs of chromosomes85% 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

Autosomal Recessive PKD (ARPKD)

Autosomal Recessive PKD (ARPKD)

Autosomal recessive PKD is caused by a mutation in the autosomal recessive PKD gene, called PKHD1.

mutations in the PKHD1 gene lead to the formation of numerous cysts characteristic of polycystic kidney disease.

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.

ARPKD is much less common than ADPKD.

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.

PKHD-Polycystic Kidney & Hepatic Disease

Mutation in PKHD1 gene which is located on chromosome 6

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)

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.

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.

Symptoms of autosomal recessive PKD begin in the earliest months of life, even in the womb.

PKD

Pain in the back and lover

sides

Headaches & High blood pressure

Urinary tract infections &

Frequent urination

HematuriaBlood in the Urine

Cysts in the kidneys and other

organs

Loss of kidney function

common symptoms

common symptoms (ARPKD)

ARPKD

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

Diagnosis of (PKD) is obtained by:

Routine laboratory studies include the following:Serum chemistry profile, including calcium and phosphorusCBC count from cysts &for anemia or signs of infectionUrinalysis looking for blood and/or proteinUrine cultureUric acid determinationIntact PTH assayGenetic 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

Family Medical History (including genetic testing)

Diagnosis of (PKD) is obtained by:

Ultrasound Imaging of kidney cysts

Ultrasound Imaging of cysts in other

organs

MRA

Abdominal CT scanAbdominal MRI scan

Intravenous pyelogram (IVP): a dye to make

your blood vessels show up more clearly on an

X-ray

Cerebral angiography

Imaging studies

Diagnosis of (PKD) is obtained by:

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

Treatment 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

Thank You