Chronic kidney disease (CKD) is the gradual failure of the kidneys’ blood filtering mechanism, requiring dialysis or kidney transplantation in its most severe of stages.
In children about half of CKD is attributed to congenital anomalies of the kidney and urinary tract (CAKUT). CAKUT are a range of structural renal malformations that originate as a result of disturbances during embryonic kidney development.
They are present from birth (hence the term, ‘congenital’), and include among others: renal agenesis, when one is born with a single kidney; and horseshoe kidney.
Prenatal ultrasound screening has greatly improved the diagnosis of patients with CAKUT. Early diagnosis is crucial to minimise kidney damage. However, to date little is known about the causes of CAKUT which can help prevent them.
Current knowledge explains only about 20 per cent of CAKUT cases. A number of studies on familial forms and using mouse models have implicated genetic factors in the development of the disease. It is believed that the majority of CAKUT are caused by the dysfunction of genes involved in kidney development. Genes are sequences of DNA by which genetic information is passed from parent to offspring. Variations in the DNA sequence can lead to diseases.
Our team has sought to better understand the cause of CAKUT in 10 unrelated Maltese patients using advanced molecular genetic technologies. The patients form part of a larger kidney disease cohort at the Malta BioBank (BBMRI.mt) who gave their consent to participate in medical research.
Preliminary analysis of 96 known CAKUT-causing genes identified likely pathogenic variations in only one of the 10 patients. While further analysis is warranted, our results reaffirm the findings of other researchers in that the genetic background of CAKUT may be more complex than previously thought.
Esther Zammit carried out this research as part of a Master of Science degree in Biochemistry at the Faculty of Medicine & Surgery (University of Malta) under the supervision of Dr Valerie Said Conti and Prof. Alex Felice. The project has set up the basis for genetic research in congenital renal malformations in Maltese patients. The research work disclosed in this publication was partially funded by the Endeavour Scholarships Scheme (Malta).
This research has also received funding from LifeCycle (Malta) Foundation through the University of Malta Research Trust (RIDT).
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Did you know?
• The avarage human body has enough iron in it to forge a metal nail that is 7.6 centimetres long,
• ... enough sulfur to kill all fleas on a dog,
• ... enough carbon to make 900 pencils,
• ... enough potassium to fire a toy cannon,
• ... enough fat to make seven bars of soap,
• ... enough phosphorous to make 2,200 match heads.
For more trivia see: www.um.edu.mt/think
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