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Most forms are hereditary.
The disease is referred to as autosomal dominant polycystic kidney disease.
The most common monogenic kidney disease and the fourth leading cause of end-stage kidney disease in adults worldwide.
Characterized by enlarged kidneys with multiple cysts that invade the renal parenchyma and eventually cause renal failure.
PKD causes numerous cysts to grow in the kidneys, the cysts are filled with fluid and if they grow excessively this will lead to kidney damage.
The magnitude of kidney-volume expansion in patients is the best predictor of subsequent decline in GFR (Grantham JJ et al).
The measurement of total kidney volume with the use of MRI can predict functional decline and morbidity.
Complications depend on the number, size, and location of cysts.
Increasing kidney volume is associated with hypertension, gross hematuria, nephrolithiasis, and pain.
Affects approximately one in every 1000 persons in the general population.
End-stage kidney disease occurs in over 50% of patients.
PKD affects all races and genders equally.
People with PKD have a possibility of developing cysts in other organs like in the liver, pancreas, sleep, ovaries, and large bowel.
The presence of hepatic and pancreatic cysts, cerebral and abdominal aneurysms contribute to morbidity and mortality.
Hypertension, recurrent urinary tract infections, renal stones, and abdominal pain or frequent presenting manifestations (Grantham JJ et al).
Approximately 85% of patients have mutations in the polycystic kidney disease 1 gene (PKD1), and the remaining 15% has polycystic kidney disease 2 gene mutations (PKD 2) and have milder manifestations ( Wilson PD).
PKD1 and PKD2 : gene products that make up the polycystin protein complex located in the micro tubular organelle, the nonmotile cilium, present in most cells of the body (Shillingord JM et al).
Mutations in genes PKD1 and PKD2 are responsible for autosomal dominant polycystic kidney disease (ADPKD).
PKD1 and PKD2 are genes that encode for polycystic proteins, and their mutations are inherited are responsible for the disorders of autosomal recessive or dominant cystic kidney disease.
Genetic testing is very expensive and sometimes it fails to detect PKD in 15% of people who have it.
Dialysis, drugs and hormones can cause multicystic kidney disease.
Patients remain asymptomatic until renal failure.
The polycystin protein complex can translate mechanical and sensory signals.
Simple cysts can develop as a consequence of aging.
Autosomal dominant polycystic kidney disease is the most common form of polycystic kidney disease, occurring in 1 in 800 live births.
Autosomal dominant polycystic kidney disease (ADPKD) is a common cause of end-stage renal disease in the United States, for there is no curative therapy, and management relies almost exclusively on ameliorating its symptoms.
Affects 500,000 person in the U.S.
Prevalence approximately 3-4 per 10,000 population.
Responsible for 7-10% of patients on hemodialysis.
Initially urinalysis shows mild hematuria and as the disease progresses proteinuria results.
May be associated with polyuria and hypertension.
Kidneys can enlarge to the point of being readily palpable on abdominal examination.
End-stage kidney disease, for which dialysis or kidney transplantation is needed, occurs between the fourth and seventh decade of life in the majority affected patients.
Type I caused by mutations in the PKD1 gene and accounts for 85-90% of cases.
Six or more cysts in women or nine or more cysts in men may be considered as diagnostic.
Type II caused by mutations in the PKD2 and accounts for 10-15% of cases.
Type II disease has a later onset of symptoms and a slower rate to renal failure with a longer life expectancy than those of type I disease.
Life expectancy 69 years for type II and 53 years for type I disease.
Impaired regulation of the mammalian target of rapamycin (mTOR) kinase is a proposed explanation for cyst formation and disease progression.
In a two-year randomized study of patients with autosomal dominant polycystic kidney disease to receive placebo or mTOR inhibitor everolimus: the treatment drug showed slowing of increase in total kidney volume, but no slowing of the progression of renal impairment.
In animal models of the mTOR inhibitors sirolimus and everolimus suppress cyst growth and prevent increase in total kidney volume.
In a two-year randomized study of patients with autosomal dominant polycystic kidney disease to receive placebo or mTOR inhibitor everolimus: the treatment drug showed slowing of increase in total kidney volume, but no slowing of the progression of renal impairment.
Animal models implicate antidiuretic hormone arginine vasopressin and secondary messenger adenosine-3′,5′-cyclic monophosphate (cAMP) as promoters of kidney cyst cell proliferation and luminal fluid secretion.
In the renal tubular cells affected by polycystic kidney disease, cyclic adenosine monophosphare is increased, and it promotes growth of affected cells and stimulates transit epithelial fluids secretion, which are two important processes involved with cyst formation and growth.
A pilot study suggests intramuscular octreotide slows progression of renal cystic disease.
Octreotide may attenuate renal deterioration in patients with autosomal-dominant polycystic kidney disease.
Lanreotide does not slow the decline in kidney function in patients with autosomal dominant polycystic kidney disease.
Autosomal dominant polycystic kidney disease (ADPKD) is a common cause of end-stage renal disease in the United States, for there is no curative therapy, and management relies almost exclusively on ameliorating its symptoms.
Tolvaptan, Is a vasopressin V2 receptor antagonist, as compared with placebo slowed the increase in total kidney volume and declining kidney function over three year period in patients with ADPKD (Torres VE et al).