Studies on ADPKD (Autosomoal Dominant Polycystic Kidney Disease)


Autosomal dominant polycystic kidney disease

ADPKD is a serious disease characterized by progressive development of cysts and bilateral enlargement of kidneys with multiple cysts. This is a genetic disease that occurs as a result of mutations in either of the PKD-1 or PKD-2 gene. The cysts begin to form in the womb of the mother from any place along the nephron, although <5% of the total number of nephrons are involved in the pathological process. As the bones accumulate fluid, they increase, completely separating from the nephron (functional unit of the kidney), compress the neighboring kidney tissue, which gradually jeopardizes kidney function.

ADPKD occurs in the world at 1: 400-1: 1000 people and accounts for approximately 4% of chronic kidney diseases (CKD). In more than 90% of cases, the disease is inherited as an autosomal dominant trait that is characterized by spontaneous mutations. Mutations in the PKD-1 gene on the 16 chromosomes (ADPKD-1) account for 85% of the cases, whereas the mutations in the PKD-2 gene on the 4 chromosomes (ADPKD-2) represent the remaining 15%.

Further, ADPKD is presented with abdominal discomfort, hematuria, urinary tract infection, sudden onset of hypertension, bulging in the abdomen, increased creatinine in the blood, or cystic vesicles in the early stages. As a rule, patients feel kidney pain, and, later, kidney failure develops. However, these symptoms differ with various stages of ADPKD presentation. The stages of ADPKD are divided into 5 stages. They are,

Stage 1: Asymptomatic or mild form of kidney disease with normal glomerular filtration rate (>90%)

Stage 2: Presents with mild form of kidney disease with GFR of 60-89%

Stage 3: Moderate form of kidney disease with GFR 30-59%

Stage 4: Severe form of kidney disease with GFR 15-29%

Stage 5: Severe form of kidney disease with kidney failure and GFR < 15%

Moreover, the probability of detecting kidney disease with ultrasound is 100% for subjects older than 30 years with a positive family history. Diagnostic criteria require the presence of two or more cysts in one kidney and at least one cyst in the opposite kidney in young adults, and over the age of 60 years of four or more cysts due to an increase in the frequency of simple benign cysts. Most often the diagnosis is made in connection with a positive family history and medical imaging, which indicate multiple bilateral cysts in the kidneys and, possibly, in the liver. At the age of 30 years, computed tomography (CT) or T2-weighted MRI are more reliable means of detecting premature disease. The ultrasound examination reveals Type 1 ADPKD in 95% of cases and Type 2 ADPKD in 70% of cases. After the examination, a genetic consultation is necessary. In 5% of patients with this disease, the probability of an aneurysm of cerebral vessels increases.

At Focus Insite, and our brand, get paid medical, we have done several qualitative paid market research studies with patients  and caregivers of those with ADPKD.

If you have ADPKD, please contact us, and we will contact you in the event we have a study that you may be eligible for. Also if you are market research firm and looking for your qualitative study filled, feel free to contact us as well.