Autosomal dominant polycystic kidney disease

　　The exact etiology of autosomal dominant polycystic kidney disease (ADPKD) is not yet clear. Although most symptoms appear after adulthood, the disease begins to form in the fetal stage. Cysts originate from the renal tubules, and the nature of the fluid in the cysts varies with the site of origin. Cysts originating from the proximal tubules have components in the cyst fluid such as Na⁺, K⁺, CI^-, H⁺, creatinine, urea, and other substances are similar to those in plasma; those originating from the distal part have Na⁺, CI^-concentration is low, while K⁺, H⁺, creatinine, urea, and other concentrations are high.
　　The abnormal genes of most patients are located on the short arm of chromosome 16, known as the ADPKD1 gene, and the product of the gene is not yet clear. In a few patients, the abnormal gene is located on the short arm of chromosome 4, known as the ADPKD2 gene, and the encoded product is also not clear. The two groups differ in the age of onset, the appearance of hypertension, and the age of entering renal failure.

　　Urinary tract infection is the most common complication of autosomal dominant polycystic kidney disease (ADPKD), mostly lower urinary tract infection. Pyelonephritis, cyst infection, and other complications may also occur. Other complications include urinary tract stones, obstruction, aneurysm rupture bleeding, especially intracranial aneurysm rupture, which accounts for 7%-13% of the causes of death in ADPKD patients. In rare cases, malignant tumors in both kidneys may occur.
　　1. Urinary tract infection: It refers to the growth and reproduction of pathogens in the urinary tract, and the inflammation caused by the invasion of the urinary tract mucosa or tissue. It is the most common type of bacterial infection, and urinary tract infection is divided into upper urinary tract infection and lower urinary tract infection. Upper urinary tract infection refers to pyelonephritis, and lower urinary tract infection includes urethritis and cystitis.
　　2. Pyelonephritis: It refers to inflammation of the renal pelvis, usually caused by bacterial infection, generally accompanied by lower urinary tract inflammation, and it is difficult to distinguish strictly in clinical practice. According to clinical course and disease, pyelonephritis can be divided into acute and chronic stages, and chronic pyelonephritis is an important cause of chronic renal insufficiency.
　　3. Intracranial aneurysm: It refers to a localized abnormal expansion of the intracranial artery lumen, causing a tumor-like protuberance in the arterial wall. Intracranial aneurysms are often caused by local congenital defects in the wall of the cerebral artery and the increase of intracranial pressure, leading to cystic bulging. It is the leading cause of subarachnoid hemorrhage. In the past, it was called congenital cerebral aneurysm, in fact, congenital cerebral aneurysms account for 70%-80% of cerebral aneurysms.

　　In the late stage of autosomal dominant polycystic kidney disease (ADPKD), the kidneys are significantly enlarged, and urine analysis shows mild proteinuria and varying degrees of hematuria, but red cell casts are not common. Even without bacterial infection, pyuria is common. Due to the rupture of cysts or the movement of stones, there may be episodic gross hematuria. Intravenous urography has characteristic findings, showing multiple cysts and kidney enlargement caused by them, irregular in shape, and elongated into a spider-like shape due to the compression of the renal pelvis, pelvis minor, and pelvis major by the cysts. Since the cysts replace functional tissue, typical 'boring' patterns can be seen in liver and kidney ultrasound examinations and CT scans, so these examinations can be used as early diagnostic methods for the disease before typical changes are shown in intravenous urography. It needs to be differentiated from single or multiple cysts that have not caused sufficient renal parenchymal damage leading to uremia.

　　Autosomal dominant polycystic kidney disease (ADPKD) is related to patient age, onset age, control of hypertension, whether there are recurrent urinary tract infections, hematuria, and other factors. With the continuous improvement of dialysis and kidney transplantation techniques, the main causes of death in patients are infection, cardiovascular diseases (including myocardial infarction, heart failure, etc.), and intracranial hemorrhage. This disease belongs to genetic diseases, and genetic counseling and prenatal examination are helpful in reducing the occurrence of the disease.

　　In the diagnosis of adrenochrome dominant polycystic kidney disease, in addition to relying on its clinical manifestations, auxiliary examinations are also needed. The main laboratory examination of this disease is imaging examination, including CT and magnetic resonance imaging, etc. This disease seriously affects the daily life of patients, so it should be actively prevented.

　　The following are the health care measures for adrenochrome dominant polycystic kidney disease (ADPKD):

　　1. Maintain a cheerful and optimistic mood, and build the confidence to conquer diseases. Cystic diseases are the result of the interaction of various factors both innate and acquired. Scientific research has found that all these factors are changeable or controllable, so one should never be pessimistic and disappointed. Moreover, optimistic and positive thinking can enhance one's immunity and is beneficial to overcoming diseases. On the other hand, one should also overcome the thought of 'underestimating the enemy' and actively cooperate with the doctor's treatment. Optimism and positive thinking, and taking things seriously are the correct guiding principles.
　　2. It is advisable to eat foods high in protein, high in amino acids, and high in fiber in the diet of this disease.

　　Adrenochrome dominant polycystic kidney disease (ADPKD) cannot be cured. About 50% of patients with ADPKD1 mutations develop uremia between the ages of 55-60, while those without ADPKD1 mutations do not develop until 70. A few ADPKD patients show clinical manifestations at a young age, even if their parents develop the disease later in life. If dialysis or kidney transplantation is not performed, patients often die of uremia or complications of hypertension, about 10% of patients die of intracranial hemorrhage caused by rupture of an aneurysm.
　　Effective treatment of urinary tract infections and secondary hypertension can significantly prolong life. If uremia is present, its treatment is the same as that for other kidney diseases. Hemoglobin levels in ADPKD dialysis patients are higher than those in other types of patients, kidney transplantation is possible, but due to the familial nature of the disease, kidneys from parents and siblings should not be used.