Polycystic kidney disease is an inherited genetic disorder characterized by progressive replacement of renal parenchyma with fluid-filled cysts, ultimately resulting in renal failure.The disorder can be inherited in autosomal dominant and autosomal recessive forms.Autosomal dominant vs autosomal recessive.Every cell in the human body normally contains 23 pairs of chromosomes. Twenty-two of these pairs look the same in both males and females and are called autosomes. The 23rd pair is the sex chromosomes, called allosomes: males have one X and oneY chromosome, whereas females have two copies of the X chromosome.
"Autosomal" means that the mutated gene causing the diseaseis located on one of the non-sex chromosomes. "Dominant" means that a single copy of a mutated gene from one parent can cause the genetic condition. In contrast, in "recessive" disorder, two copies of the mutated gene, one from each parent, are necessary to inherit the disease. Although autosomal dominant polycystic kidney disease differs from autosomal recessive disorder, both forms of the condition result in a gradual loss of renal function and end-stage renal disease that requires either dialysis or kidney transplantation for patient survival.Autosomal dominant polycystic kidney is a mor e common form of the disease. It is characterized by slow cystic enlargement of the kidneys, with renal failure occurring by the fifth to sixth decade of life.
Cyst development and growth are gradual, and despite the massive growth of the kidneys, renal function in these patients is usually conserved until ages 30–40, followed by a rapid decline.Autosomal recessive polycystic kidney disease is rare and has a more severe clinical course. It typically presents in a younger population, and the affected patients often die perinatally or in infancy.ADPKD is the most frequent form of polycystic kidney disease. There are over 600,000 patients with ADPKD in the United States and about 12 million worldwide. MRITRVCTRT KIDNEY TRVLT KIDNEY TRVEnlarged bilateral kidneys with innumerable cysts of varying size and complexity in a patient with autosomal dominant polycystic kidney disease and renal failure.37
DPKD is an adult-onset multisystem disease in which renal parenchyma is gradually replaced by progressive development and growth of cysts in both kidneys. An ever-increasing volume of fluid-filled renal cysts negatively affects physiologic functions of the kidneys, such as blood filtration. The surviving renal parenchyma hypertrophy and perform compensatory hyperfiltration, which typically maintains kidney function within a relatively normal range for decades. After the kidney reserve has been exhausted and a large portion of renal tissue has been replaced by cystic tissue, kidney function rapidly declines. Commonly patients suffering from ADPKD develop kidney failure after the fourth decade of life and require dialysis or a kidney transplant for survival.MRITRVCTRT KIDNEY TRVLT KIDNEY TRVEnlarged bilateral kidneys with innumerable cysts of varying size and complexity in a patient with autosomal dominant polycystic kidney disease and renal failure.
ADPKD is a systemic disorder, and in addition to the renal cysts, patients often develop liver cysts and cardiovascular abnormalities, including hypertension, left ventricular hypertrophy, heart valve abnormalities, and intracranial aneurysms.Patients with ADPKD typically become symptomatic between 30 to 50 years of age. The most common symptom is hypertension which is found in 60% of these patients before the impairment of renal function and in nearly 100% of patients by the time they progress to end-stage renal disease. Abdominal pain is another common symptom in individuals suffering from ADPKD.
Pain can be acute resulting from cyst infection or hemorrhage or present in the chronic disabling pattern due to the mass effect of progressively enlarging kidneys. Patients with chronic pain often complain of back and chest discomfort, shortness of breath, and early satiety. Other presenting signs and symptoms include palpable kidneys, hematuria, and recurrent urinary tract infections.Cyst complications, including infection and rupture, are common in ADPKD and can manifest with symptoms such as fever, vomiting, leukocytosis, and acute flank pain. Intra-cystic hemorrhage is another frequent occurrence that leads to gross hematuria and passage of clots, sharp localized abdominal pain, and perirenal hematoma. Nephrolithiasis is twice as likely in patients with ADPKD than in the general population and may cause pain, obstruction, hematuria, and exacerbation of urinary tract infection.SAGCTLT KIDNEY TRVLT KIDNEY SAGEnlarged left kidney with innumerable cysts of varying size and complexity in a patient with autosomal dominant polycystic kidney disease and renal failure.40
The most common extrarenal clinical manifestation of ADPKD is the development of hepatic cysts, which typically occurs after the development of renal cysts.Other findings in patients with ADPKD include pancreatic, thyroid, subarachnoid, and seminal vesicle cysts. The most life-threatening extrarenal manifestation of ADPKD is an intracranial aneurysm. It is found in up to 40% of ADPKD patients and, if ruptures, leads to intracranial hemorrhage and death.Presymptomatic ADPKD in at-risk family members (such as children or siblings of affected individuals) is typically diagnosed based on imaging. Ultrasonography is the imaging modality of choice to confirm a suspected ADPKD diagnosis. RT KIDNEY SAGLT KIDNEY SAGEnlarged bilateral kidneys with innumerable cysts of varying size and complexity in a patient with autosomal dominant polycystic kidney disease and renal failure.41
Given that the number of renal cysts increases with age, it has been proposed that three or more cysts, either unilaterally or bilaterally, are sufficient to diagnose patients between 15 to 39 years of age. Likewise, patients between the ages of 40 and 59 require at least two cysts in each kidney, and at least four cysts in each kidney are necessary to diagnose patients aged 60 and above. In patients without an established family history, the detection of more than ten cysts per kidney by ultrasonography is usually considered diagnostic.CT and MRI are essential in evaluating cysts complications and often provide better quantitative data. Genetic testing may be necessary to obtain a definite diagnosis in some cases.CORMRICORCTAbdominal CT and MRI of a patient with a history of autosomal dominant polycystic kidney disease and acute on chronic renal failure demonstrate bilaterally enlarged kidneys with innumerable cysts of varying size and complexity.42
ADPKD is a progressive genetic disorder in which renal cyst development and enlargement continue throughout the patient's life leading to renal failure. There is no known cure for ADPKD, and treatment is generally focused onslowing the disease progression, managing symptoms, and preventing complications. End-stage renal disease and renal failure require dialysis or transplantation for survival
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