Highlights:
- Scientists at
McMaster University, Canada and University of Chicago have proposed
precision medicine treatment options for Autosomal
Dominant Polycystic Kidney Disease (ADPKD)
- ADPKD is characterized by degenerative decline of kidney function
and can ultimately lead to end-stage renal disease
- Precision medicine tailors the treatment
according to each patient's genetic makeup, biomarkers, stage of the
disease, prognosis and overall health condition.
Scientists
at the Department of Medicine, McMaster University, Canada and University of
Chicago have proposed precision medicine treatment options for
Autosomal Dominant Polycystic Kidney Disease (ADPKD). The Precision Medicine Initiative defines precision medicine
as "an emerging approach for disease treatment and prevention that takes into
account individual variability in genes, environment, and lifestyle for each
person." Precision medicine tailors the treatment according to each patient's
genetic makeup, biomarkers, stage of the disease, prognosis and overall health
condition. Precision medicine majorly takes into account the genetics of the
disease as it expresses within each individual.
What is
Autosomal Dominant Polycystic Kidney Disease (ADPKD)?
Autosomal
Dominant Polycystic Kidney Disease (ADPKD) is a genetically inherited kidney
disorder causing fluid-filled cysts in the kidneys. This leads to
enlargement of kidneys and ultimately causes end-stage renal disease. Globally,
ADPKD is the fourth largest cause of kidney failure and most people diagnosed
with ADPKD will develop kidney failure by the age of 50.
New Precision Medicine Treatment Options for Autosomal Dominant Polycystic Kidney Disease
Children affected by ADPKD are born with
the condition but it is not noticeable until the cysts develop in the kidneys.
Symptoms can begin in childhood, youth or in adults between the ages 30-50.
Symptoms include:
Kidney function usually deteriorates till it reaches
end-stage kidney failure.
‘Researchers propose precision medicine options to personalize treatments for patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)’
ADPKD is
caused by a genetic mutation which disrupts the normal development of kidney
cells. There
are two faulty genes causing ADPKD:
- PKD1 which is
responsible for around 90% of all cases
- PKD2 which is
responsible for around 10% of all cases
While both genes cause similar symptoms, PKD1 is more
severe.
ADPKD has an autosomal dominant
inheritance which means that if one parent has the faulty PKD1 or PKD2 gene,
every child of such a parent has a 50% chance of inheriting the faulty gene.
In some cases, ADPKD occurs as a result of a somatic mutation in an adult and
he/she can pass on the condition to the next generation.
Currently,
there is no cure for ADPKD. The symptoms such as
high blood pressure,
urinary tract infections are usually treated
with medications. Surgical interventions may be used to remove large cysts.
Dialysis
and kidney transplants are the only options for patients with end-stage renal
failure.
New Precision
Medicine Treatment Options for ADPKD
In this review, the
researchers
discussed approaches for the management of ADPKD patients which have advanced
due to technologies like genotyping, precision imaging, biomarker profiling and
emerging therapeutics. The researchers discussed pharmacological and
non-pharmacological interventions for treatment of complications like
hypertension and proteinuria which are key factors in accelerating end-stage
renal disease. The researchers also focused on latest strategies to slow down
cyst growth in such patients. The
researchers
propose that the phenotypes of ADPKD patients vary with a number of epigenetic
factors like environmental exposure, age of diagnosis, number of
co-morbidities, prognosis and response to certain types of treatment. While
patients may share similar genotypes, their body types may be amenable or not
amenable to certain types of therapeutics. In this case, it is best to use
precision medicine to work out personalized treatment plans for each
individual.
The researchers discussed the
need for prophylactic therapeutics for those patients who are
asymptomatic. These treatments slow down cyst growth and delay the onset of
end-stage renal disease. Hypertension and proteinuria also have a major role in
end-stage renal disease. These two symptoms must not be ignored and treatment
must be personalized and based on genotyping and other biomarkers. Treating
these two symptoms can relatively slow down the progress of ADPKD.
Finally, the researchers also discussed recommendations for
managing other renal complications like cyst infections and inflammation,
hematuria, nephrolithiasis and chronic pain associated with ADPKD. With
precision medicine options and personalized treatment plans on the horizon,
patients should respond better with improved outcomes and positive quality of
life.
References:
- Lanktree, Matthew B., and Arlene B. Chapman. "New treatment paradigms for ADPKD: moving towards precision medicine." Nature reviews. Nephrology (2017). Accessed on 21st October 2017 from
- What is ADPKD? - (https://pkdcu re.org/what-is-pkd/adpkd/)
- What is precision medicine? - (https://ghr.nlm.nih.gov/primer/precisionmedicine/definition)
Source: Medindia
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