Kidneys are bean-shaped organs that primarily serve to filter blood from waste products and extra water in the body, producing urine. When this filtering mechanism fails to function properly, high levels of waste may accumulate in the blood, which can be fatal.
Certain types of kidney disease can be prevented by simply following a healthy lifestyle, but this is not always the case. Some diseases are present from birth and are termed ‘congenital’.
This year’s World Kidney Day, held on March 10, 2016, was aimed at increasing awareness that a number of kidney diseases seen in adults actually begin in childhood.
Recent advances in DNA sequencing technologies have shed new light on the factors that cause inherited disorders. For some congenital kidney diseases, the pattern of inheritance and the disease-causing mutations are clear.
An example where an early genetic diagnosis is possible is congenital nephrotic syndrome of the Finnish-type (CNF). This is characterised by the leakage of large amounts of protein in urine. To date there is still no specific treatment to cure CNF and the treatment is supportive. Progress to kidney failure is inevitable when certain DNA mutations are present, and the use of advanced genetic technologies to find these mutations will help direct therapy.
In other congenital kidney diseases, however, such as in structural malformations of the kidney and urinary tract (CAKUT), the role of genetics is still unclear. It is reported that current genetic testing explains only five to 15 per cent of cases with CAKUT. Early diagnosis of CAKUT has increased with the advent of ultrasound scans in prenatal examinations, and hopefully further research into defective renal development will help prevent the disorder.
Availability of renal replacement therapy has been life-saving to many patients with kidney failure. But the quality of life of these patients is often poor. Kidney transplants are preferred over dialysis, but organ shortage and possible organ rejection by the recipient’s own immune system pose challenges.
Current research in genomic medicine holds great promise for improved diagnosis and new treatment strategies for patients with kidney diseases. We have come a long way since the first human genome was completely decoded in 2003 in an international effort that lasted 13 years. It is now envisaged that the standard practice in medicine will involve a personalised approach tailored to the individual patient. This approach is based on one’s genetic predisposition to develop a certain disease, and one’s predicted response to medications.
The University of Malta is currently carrying out research to better understand the genetics of CNF and CAKUT. This research is funded by LifeCycle (Malta) Foundation through the University of Malta Research Trust (RIDT).
Did you know?
• An individual blood cell takes around 60 seconds to go around your whole body.
• ‘Sphenopalatine ganglioneuralgia’ is the scientific term for brain freeze.
• There are 10 times more bacterial cells in your body than body cells.
• Tomatoes have more genes than humans.
• Your weight on the moon is 16.5 per cent of your weight on Earth (so it is a better place to go on a diet there!).
For more trivia see: www.um.edu.mt/think
Sound bites
• Life took hold on land at least as early as 3.2 billion years ago, suggests a study by scientists from Berlin, Potsdam and Jena in Germany. The team led by Sami Nabhan of the Freie Universität Berlin studied ancient rock formations from South Africa’s Barberton greenstone belt. These rocks are some of the oldest known on Earth, with their formation dating back to 3.5 billion years. In a layer that has been dated at 3.22 billion years old, tiny grains of the iron sulfide mineral pyrite were discovered that show telltale signs of microbial activity.
https://www.eurekalert.org/pub_releases/2016-11/ggph-lth110716.php
• A study has found pancreatic cancer will become the third leading cause of death from cancer in the EU behind lung and colorectal cancer. Pancreatic cancer mortality rates are increasing in many countries across the EU and it is estimated that 91,500 deaths will occur from the disease next year, compared with 91,000 from breast cancer. The research used time-linear prediction models to estimate mortality rates until 2025, when deaths from pancreatic cancer (111,500) across Europe are projected to have increased by almost 50 per cent since 2010 (76,000). All countries included in the study show varying increases in pancreatic cancer mortality rates, from 20 per cent to a staggering 131 per cent increase over the 15-year period. Despite being the third biggest cancer killer, the incidence of pancreatic cancer across Europe is relatively low in comparison with colorectal, lung and breast cancer.
https://www.eurekalert.org/pub_releases/2016-11/sh-pcs110216.php