How tall are you? ...What is a quietly progressing genetic disease polyangsin?
Nov 27, 2025
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Professor Choi Soo-jung of the Department of Nephrology at Soonchunhyang University Bucheon Hospital emphasized that `Danangsin is a genetic disease that causes a large number of water bags inside the kidneys, making the kidneys bigger but less functional 'chronic kidney disease', and early diagnosis and steady management are very important.'
The size of the normal kidney is about 10 cm for men and 9 cm for women, but it can grow up to several tens of cm in patients with polycystic kidneys. Most occur genetically, and autosomal dominant polycystin (ADPKD) is the most common. If one of the parents is a patient, it is inherited to the child at a 50% probability, and the main cause is PKD1 (about 85%) and PKD2 (about 15%) gene mutations. In addition, there is an autosomal recessive PKD (ARPKD), which is rarely found in childhood.
It is a relatively common genetic disease that occurs in 1 in 1,000 adults in Korea. About 30,000 to 40,000 patients are estimated to be patients, and are considered the fourth cause of end-stage renal failure after diabetes, high blood pressure, and chronic glomerulonephritis.
Professor Choi Soo-jung advised "As the family history is often clear, it is also recommended that the patient's family undergo early examination through kidney ultrasound or CT."
Although polyangsin has few symptoms in the beginning, symptoms such as flank pain, abdominal bloating, hematuria, high blood pressure, frequent urinary tract infections, and kidney stones appear as it progresses gradually. In general, symptoms are not clear before the age of about 45. When polyangin progresses, renal function decreases rapidly, leading to end-stage renal failure requiring dialysis or kidney transplantation. In addition, various complications such as hypertension, brain aneurysm, hepatic cysts, pancreatic cysts, and heart valve disease are accompanied.
The diagnosis checks the number and size of cysts through imaging tests such as ultrasound, CT, and MRI. In particular, MRI is useful for prognosis prediction as it can accurately track changes in renal volume. If necessary, genetic tests such as prenatal tests and kidney transplants are performed to check the family history or predict long-term prognosis.
Currently, there is no fundamental treatment to eliminate the cyst itself or to correct genetic defects. The goal of treatment is to slow the rate of renal function decline and control complications. In Korea, a cyst growth inhibitor 'Tolvaptan' has been introduced and used. Professor Choi explained that `Tolbabthan has been proven to be effective in slowing renal function decline, but its use is limited due to side effects such as thirst, polyuria, liver dysfunction, and expensive drug prices.'
Lifestyle management is also essential. Low-salt diet, sufficient water intake, blood pressure control, regular exercise, and weight management are helpful.
Professor Choi said that "Currently, research on gene correction of the causative agent is actively underway" and that "polycystin is a genetic disease that can be managed"." Above all, even if there are no symptoms, taking a renal function test every six months and managing blood pressure is the way to protect kidney health.
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This article was translated by Naver AI translator.
