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Hoanganhydct
20-10-10, 05:57 PM
Polycystic Kidney Disease (PKD or PCKD, also known as polycystic kidney syndrome) is a cystic genetic disorder of the kidneys.[1] There are two types of PKD: Autosomal Dominant Polycystic Kidney Disease (ADPKD) and the less-common Autosomal Recessive Polycystic Kidney Disease (ARPKD).
It occurs in humans and some other animals. PKD is characterized by the presence of multiple cysts (hence, "polycystic") in both kidneys. The cysts are numerous and are fluid-filled resulting in massive enlargement of the kidneys. The disease can also damage the liver, pancreas, and in some rare cases, the heart and brain. The two major forms of polycystic kidney disease are distinguished by their patterns of inheritance.
Autosomal dominant
ADPKD is a late-onset disorder characterized by progressive cyst development and bilaterally enlarged kidneys with multiple cysts. It is a genetic disorder resulting from mutations in either the PKD-1 or PKD-2 gene. Cyst formation begins in utero from any point along the nephron, although <5% of total nephrons are thought to be involved. As the cysts accumulate fluid, they enlarge, separate entirely from the nephron, compress the neighboring renal parenchyma, and progressively compromise renal function.
Clinical features
Micrograph of a von Meyenburg complex, a common finding in the liver in individuals with polycystic kidney disease. Liver biopsy. Trichrome stain.
Presenting symptoms and signs include abdominal discomfort, hematuria, urinary tract infection, incidental discovery of hypertension, abdominal mass, elevated serum creatinine, or cystic kidneys on imaging studies, patients usually have renal pain, and develop renal insufficiency.
Diagnosis
The sensitivity of renal ultrasonography for the detection of ADPKD is 100% for subjects 30 years or older with a positive family history. Diagnostic criteria require two or more cysts in one kidney and at least one cyst in the contralateral kidney in young subjects, but four or more in subjects older than 60 years because of the increased frequency of benign simple cysts. Most often, the diagnosis is made from a positive family history and imaging studies showing large kidneys with multiple bilateral cysts and possibly liver cysts. Before the age of 30 years, CT scan or T2-weighted MRI is more sensitive for detecting presymptomatic disease because the sensitivity of ultrasound falls to 95% for ADPKD type 1 and <70% for ADPKD type 2.Genetic counseling is essential for those being screened. It is recommended that screening for asymptomatic intracranial aneurysms should be restricted to patients with a personal or family history of intracranial hemorrhage. Intervention should be limited to aneurysms larger than 10 mm. Someone with this disease has a 5% chance of getting brain aneurysms