Autosomal Dominant Polycystic Kidney
Disease (Indian Express)
Mains Paper 2: Health
Prelims level : Polycystic Kidney Disease
Mains level : Read the newscard
- Doctors at Delhi’s Sir Ganga Ram Hospital have removed what is
believed to be the “largest kidney” in India and the third-largest in the
world, from a 56-year-old man suffering from a genetic disorder called
Autosomal Dominant Polycystic Kidney Disease (ADPKD).
- The kidney weighed 7.4 kg (more than two newborn babies), and
measured 32 cm x 21.8 cm. A human kidney on average weighs between 120 grams
and 150 grams.
- According to doctors at the hospital, the only two instances of
kidneys heavier than this being removed are from the United States (9 kg)
and the Netherlands (8.7 kg).
- The Guinness Book of Records, however, acknowledges a 4.25 kg
kidney removed from an ADKPD patient at a Dubai hospital in 2017 as the
What is Autosomal Dominant Polycystic Kidney Disease (ADPKD)?
- It is a rare disease that occurs in 1 out of 700-1,000
individuals. Globally, there are over 12.5 million such cases, but only a
fourth of them are believed to be aware of their condition.
- Even so, as inherited kidney disorders go, ADPKD is among the most
common. It is also one of the most common causes of end-stage kidney disease
(when kidneys can no longer function properly).
- Numerous cysts grow in the kidneys, and the most common symptoms
include pain in the back and between the ribs and hips, headaches, blood in
the urine, high blood pressure, and kidney insufficiency.
- Though a kidney disease, ADPKD can affect other organ systems
leading to a multisystem disorder. Organs that can be affected include the
liver, pancreas, prostrate and glands of the male reproductive tract.
- The American non-profit National Organisation for Rare Diseases
(NORD) says ADPKD was earlier known as adult polycystic kidney disease,
since it usually occurs in the fourth or fifth decade of life — but it has
been reported in children and infants as well.
- ADPKD is caused by inherited mutations in one of the two genes
that create proteins for the proper functioning of the kidneys and other
parts of the body.
- Even so, the precise role that these proteins play in the proper
functioning of the kidney is not fully understood. Researchers believe they
help in the development of tubes and blood vessels in the kidneys and other
organs, and in increasing the flow of calcium through cell membranes.
- The ADPKD cysts that can range in size from that of a pin-head to
larger than a grapefruit, according to NORD. These cysts, which resemble
blisters, form inside the kidneys on the walls of hair-sized structures
called nephrons, which help to filter out waste from the blood.
- The cysts can also continue to grow as isolated sacs of fluid, and
this is what gives the kidney its abnormal size and weight.
How can the disease be treated?
- Both men and women are equally likely to develop this disease.
Over 6,000 new cases are diagnosed every year in the United States,
according to NORD.
- Treatment includes dialysis and renal (kidney) transplant. The
diagnosis involves using imaging techniques such as ultrasonography and
Magnetic Resonance Imaging (MRI).
- In the case of the 56-year-old patient in Delhi, his other kidney
weighed more than the one that was removed. One of them had to be removed
because the patient had stopped responding to antibiotics, and was in pain.
- The patient is on dialysis, and is expected to undergo a renal
transplant. Typically, among patients with this disease who are undergoing
dialysis, the kidney is not removed unless there are signs of bleeding,
infection or tumours.
Q1. With reference to the ‘Global Cooling Prize’ (GCP), consider the
1. It aims to spur development of a residential cooling solution that has at
least five times (5x) less climate impact than today's standard products.
2. It is an initiative of NITI Aayog.
Which of the statements given above is/are correct?
(a) 1 only
(b) 2 only
(c) Both 1 and 2
(d) Neither 1 nor 2
Q1. What is Autosomal Dominant Polycystic Kidney Disease (ADPKD)? How can
the disease be treated?