The diagnosis and prognosis of autosomal dominant polycystic kidney disease

Article Abstract:

Adult polycystic kidney disease is characterized by the development of many cysts, sac-like structures that contain fluid or solid material, in the kidney. The outlook for this disease has improved with the increased availability of treatment for kidney failure. In addition, advances have been made in the early diagnosis of the disease through the use of ultrasound, a method using sound waves to visualize internal structures, and gene markers. A gene marker linked to polycystic kidney disease has been identified on the short arm of chromosome 16 (identified as PKD1), and associated with the condition for most, but not all patients. Seventeen families were identified by contacting kidney and urinary tract specialists in Newfoundland and Labrador who indicated their patients who were presently undergoing treatment for the condition. Family members were scanned by ultrasound, blood was drawn for laboratory tests, and blood pressure measurements were taken. Ten of the families were found to have polycystic disease, which was inherited together with the PKD1 marker on chromosome 16. However, in two large families the condition was inherited independently of the PKD1 mutation. In five other families the results were equivocal. Ultrasound examinations were performed on 290 persons, who had a 50 percent chance of inheriting the condition. In the group of families where the disease was associated with the PKD1 mutation, 46.6 percent of those under 30 had evidence of the disease; the rate for those older than 30 was 51.4 percent. All patients with a 50 percent chance of inheriting PKD1 mutation who had positive ultrasound scans exhibited the genetic marker. Development of end-stage kidney disease (irreversible chronic renal failure) occurred earliest at 30 years of age, while 25 percent reached this point by age 47, 50 percent by age 59, and 75 percent by age 70. Individuals with the PKD1 allele had a shorter time to the beginning of end-stage disease than did non-PKD1 patients (56.7 vs. 69.4). Hypertension (high blood pressure) was significantly higher in persons with renal cysts than in individuals without the condition. The findings also show that persons with a 50 percent risk of inheritance who are older than 30 and have not developed polycystic kidneys are unlikely to have inherited the condition. Patients with the PKD1 form are not always more severely affected than those who have inherited the non-PKD1 linked condition. (Consumer Summary produced by Reliance Medical Information, Inc.)

Diagnosis, Prognosis

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Apoptosis and loss of renal tissue in polycystic kidney diseases

Article Abstract:

Programmed cell death may be related to the loss of kidney function in polycystic kidney disease. Programmed cell death is known as apoptosis. Polycystic kidney disease involves the growth of cysts in extremely enlarged kidneys that gradually lose their function. Researchers analyzed the DNA in the kidneys from 16 patients with the disease, 12 normal patients, and diseased and normal mice. DNA associated with apoptosis was found in all but one of the diseased human kidneys, but not in the normal kidneys. All of the diseased mice had apoptotic DNA, but the normal mice did not. Apoptotic DNA was also detected in cells cultured from diseased kidneys and in diseased kidney tissue stained directly. In tissue staining, apoptotic DNA was found in the glomeruli, the noncystic tubular epithelial cells, and cells lining the cysts. Apoptotic DNA was not found in normal kidney cells or tissue, or in tissue from kidneys from patients with other kidney diseases that were analyzed later.

Cell death

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Polycystic kidney disease

Article Abstract:

The genetics and physiology of polycystic kidney disease are reviewed. Topics include autosomal dominant and autosomal recessive polycystic kidney disease, familial nephronophthisis, medullary cystic kidney disease, cell biology, molecular biology, developmental regulation and programming, and prospects for prognosis and therapy. Polycystic kidney disease is caused by cysts in the kidneys that can cause kidney failure.

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