POLYCYSTIC KIDNEY DISEASE

Muhammad Kamran SialUniversity Of Sargodha

General overview of the disease

History PKD was first described in

ninetieth century European medical literature

A comprehensive study about this disease was first published in 1957 by Dr O Z Dalgard.

The PKD discussed by him refers to Autosomal dominant PKD (ADPKD) or Adult PKD.

This form of PKD is not to be confused with Autosomal recessive PKD.

(Renal Resource centre)

General overview of the PKD

Affects on body Produces cysts in liver pancreas spleen ovaries large bowel Cysts in these organs usually do not cause serious problems

(Polycystic Kidney Disease Foundation)

General overview of the PKD PKD can also affect the

brain or heart. In brain, it can cause an aneurysm. An aneurysm is a bulging

blood vessel that can burst, resulting in a stroke or even

death

In heart, the valves can become floppy, resulting in a heart murmur in some patients

(Polycystic Kidney Disease Foundation)

Types of PKD 1.Autosomal Dominant PKD (also called PKD or ADPKD)• Transmitted by parent to child

by dominant inheritance.• In other words, only one copy of

the abnormal gene is needed to cause the disease

2.Infantile or Autosomal Recessive PKD (also called ARPKD)• Transmitted by parent to child by

recessive inheritance.• It tends to be very serious and is often

fatal in the first few months of life• ARPKD is extremely rare. It occurs in 1

out of 25,000 people

(Polycystic Kidney Disease Foundation)

Types of the PKD3.Acquired Cystic Kidney Disease  (also called ACKD) It is often associated with

kidney failure and dialysis. People with ACKD usually

seek help because they notice blood in their urine.

This is because the cysts bleed into the urinary system, which discolors urine.

(Polycystic Kidney Disease Foundation)

Causes

1.Polycystic kidney disease (PKD): • is passed down

through families (inherited), usually as an autosomal dominant trait.

• If one parent carries the gene, the children have a 50% chance of developing the disorder.

2.Autosomal dominant PKD: • occurs in both children

and adults, but it is much more common in adults.

• Symptoms often do not appear until middle age.

• It affects nearly 1 in 1,000 Americans.

• The actual number may be more, because some people do not have symptoms.

U.S. National Library of Medicine

Causes

Persons with PKD have many clusters of cysts in the kidneys. What exactly triggers the cysts to form is unknown.

A family history of PKD increases risk for the condition.

An autosomal recessive: • It appears in infancy or

childhood. • This form is much less

common than autosomal dominant PKS, but it tends to be very serious and gets worse quickly.

• It can cause serious lung and liver disease, end-stage kidney disease, and it usually causes death in infancy or childhood.

U.S. National Library of Medicine

Causes

PKD is associated with the following conditions:• Aortic aneurysms• Brain aneurysms• Cysts in the liver,

pancreas, and testes• Diverticula of the colon• As many as half of

people with PKD have cysts on the liver.

U.S. National Library of Medicine

Incidence

PKD is found in all continents and amongst all ethnic groups

PKD is hereditary or a family disease. Although not all members of the family will inherit it, everyone is affected , at least emotionally

http://www.renalresource.com/booklets/pkd.php

Incidence

ADPKDbetween the ages of 30 and 40, but they can begin earlier, even in childhood

In severe conditions (35-55%)  (r5)

prevalence of ADPKD of 1 in 1,000 persons among children and adults

ARPKDin the earliest months of life, even in the womb

neonates 30% to 50% perinatal mortality 43%

prevalence of ARPKD of 1 in 10,000 neonates and children

ACKDAbout 90 percent of people on dialysis for 5 years develop ACKD

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Age or ethnic group(Appearance of Symptoms )

Mortality Rate

People affected

https://www.clinicalkey.com/topics/.../polycystic-kidney-disease.html

(Polycystic Kidney Disease Foundation)

Signs and Symptoms Most people do not develop symptoms

until they are 30 to 40 years old. The first noticeable signs and symptoms may include: Back or side pain An increase in the size of the abdomen Blood in the urine Frequent bladder or kidney infections headaches related to high blood pressure

High blood pressure is the most common sign of PKD.

Fluttering or pounding in the chest About 25% of PKD patients have a so-

called floppy valve in the heart, and may experience a fluttering or pounding in the chest as well as chest pain. (Polycystic Kidney Disease Foundation)

Diagnosis

1.Ultrasound • If someone at risk for• PKD is older than 30

years and has a normal ultrasound of the kidneys, he or she probably does not have PKD.

2.CT scan (computed tomography scan)• May detect smaller

cysts that cannot be found by an ultrasound

(Polycystic Kidney Disease Foundation)

3.MRI (magnetic resonance imaging):• MRI is used to measure and

monitor volume and growth of kidneys and cysts.

4.Gene linkage analysis: • Special blood tests on at least

three family members can be done to get a diagnosis in the at-risk individual.

(Polycystic Kidney Disease Foundation)

Diagnosis

Treatment At present, there is no cure for PKD. Many supportive treatments can be done

to help prevent or slow down the loss of kidney function These include:

careful control of blood pressure prompt treatment with antibiotics of

a bladder or kidney infection lots of fluid when blood in the urine is

first noted medication to control pain A healthy lifestyle with regard to Smoking cessation Exercise Weight control and Reduced salt intake

(Polycystic Kidney Disease Foundation)

Prevention Currently, no treatment can

prevent the cysts from forming or enlarging.

Reducing salt intake helps control blood pressure in PKD patients who have high blood pressure.

A diet low in fat and moderate in calories is recommended to maintain a healthy weight.

Speak to your doctor or a dietician about other changes to your diet

(Polycystic Kidney Disease Foundation)

(U.S. National Library of Medicine)

Conclusion It is difficult to talk about this disease as a family,

there are qualified counsellors who understand its inheritance pattern and implications of such a diagnosis

Counsellors can assist families to retain maximum productivity and acceptance whilst coping with what is difficult and challenging situation.

IT is important that patients discuss their disease concerns with doctors.

(Renal Resource centre)

References:

1.Renal Resource centre: www.kidny.org.au/renalresources

2.Polycystic Kidney Disease Foundation: www.pkdcure.org 3.U.S. National Library of Medicine : U.S. Department of Health and Human Services National Institutes of Health 

4. https://www.clinicalkey.com/topics/.../polycystic-kidney-disease.html http://www.renalresource.com/booklets/pkd.php

5. Patient.co.uk http://www.patient.co.uk/doctor/autosomal-dominant-polycystic-kidney-disease