At age 11, Aaron Ritz woke up with side pain. His pediatrician sent him to the hospital where he was found to be in complete renal failure. He started dialysis the next day.
Young boy asleep on hospital bed“Aaron was diagnosed with polycystic kidney disease, which he likely had from birth, but aside from being small for his age, we had no signs that anything was wrong,” said Aaron’s mother Brandy Ritz. “In less than 24 hours, our world was turned completely upside down.”
There are two forms of polycystic kidney disease (PKD). The autosomal dominant form affects approximately 1/1000 individuals. It typically presents in adulthood and is most often caused by a single genetic mutation in one of two genes, PKD1 or PKD2. The autosomal recessive form of PKD is less common (1/20,000) and presents prenatally or in early childhood with two mutations within the same gene.
Aaron’s nephrologist suggested genetic testing due to the unusual nature of his clinical presentation, so he was seen at the Greenwood Genetic Center. Testing revealed no mutations in the genes most commonly associated with polycystic kidney disease, but he did have a single variant in a gene called NEK8.
“NEK8 is known to be a rare cause of autosomal recessive PKD when there are two mutations present, and typically there are also other extra-renal manifestations such as liver and pancreatic involvement,” said Rich Steet, PhD, Director of Research at the Greenwood Genetic Center (GGC). “But Aaron, who had no other organ involvement, only had a single genetic change in NEK8 which had never been associated with kidney disease.”
Steet noted that this is important work that expands our understanding of both the NEK8 gene and polycystic kidney disease. “In the future, clinicians should pay attention to single NEK8 variants in patients with PKD, include this gene in genetic testing panels, and consider the possibility of a single NEK8 variant as disease-causing,” added Steet.
The collaborators published these new findings in Kidney International, a journal of the International Society of Nephrology, in August.
This causes the accumulation of toxins and fluids in the circulation, which can lead to a variety of health problems, including heart attack and stroke.
Scientists are still attempting to find out why the chronic renal disease patient population in North America is expanding so quickly.
Some scientists are investigating the idea that the huge number of individuals owing in this nation is related to the enormous number of immigrants who have arrived in the country in the previous twenty years or so.
This drug has been shown to be very successful in the treatment of diseases such as cystic fibrosis, sickle cell anemia, and end-stage liver disease.
It is also used extremely successfully to treat breast cancer patients who have failed to respond to chemotherapy.
While doxycycline can help cure certain forms of renal illness, the dangers greatly outweigh the benefits.
Kidney treatment naturally aims to strengthen the progression of the disorder and uncover the underlying cause of damage.Facts on chronic kidney diseaseHere are some of the facts about chronic kidney disease• Chronic kidney disease is a slow progression of kidney damage• Diabetes and high blood pressure are the two main factors that affect your kidneys• Dialysis is not the only cure to get over the condition• Diagnosis commonly includes urine tests, blood tests, ultrasound, CT scan, and kidney biopsy• Ayurvedic medicines help to avert kidney problems permanentlySymptoms of chronic kidney diseaseIn most cases, chronic kidney disease is usually not indicative.
Thus, it is necessary to not to rely on the signs but undergo the yearly test if you have one or more risk factors.
Early detection is the key to timely treatment and better prevention.The symptoms that appear when you have CKD include:• Anemia• Dark colored urine• Blood in the urine• Serious panting• Decreased mental attention• Decrease in the urine output• Edema in the body parts; swollen face, hands, and ankles• Fatigued body• Nausea and vomiting• High blood pressure• Difficulty sleeping at night• Muscle cramps• Foamy urine• Changes in bodyweight• Protein in the urine that makes it foamyStages of chronic kidney diseaseSince CKD does not happen all at once rather in stages, it is important to know which stage of CKD you are in.
In the initial stage when the damage is mild, you will not need dialysis rather kidneys are self-healing at that time.
With the help of some preventive measures, you can slow down the continuation of CKD at that stage.
The stages are classified as:Stage 1: GFR greater than 90, however it shows kidney disease has been diagnosedStage 2: GFR lower than 90 ml Stage 3: GFR when drops to 60 or less; moderate damage to the kidneys Stage 4: GFR lower than 30 ml; severe damage to kidney functionStage 5: GFR when reduces to 15, is a sign of kidney failurePatients with diabetes or high blood pressure should have an annual test (microalbuminuria) to check for the protein in the urine.
