What Is a Multicystic Dysplastic Kidney?

Adult polycystic kidney disease, also known as autosomal dominant polycystic kidney disease, is one of the most common autosomal dominant genetic diseases with an incidence rate of about 1: 1000.

Adult polycystic kidney disease

Adult polycystic kidney disease

Adult polycystic kidney (OMIM173900), also known as autosomal dominont polycystic kidney disease (ADPKD), is one of the most common autosomal dominant genetic diseases with an incidence of about 1 : 1000. The disease accounts for the third place in advanced renal failure cases worldwide.

At least three genes related to this disease have been found. Among them, it has been clearly identified that PKD1 and PKD2 are located at 16p13.1 and 4q21-q23, respectively. The expression and synthesis of the proteins are polycystin and polycystin 2 ( polycystin2). PKD1 mutations account for 85% to 90% of cases, while PKD2 cases account for only 5% to 15%. In addition, a small number of cases were found to be unrelated to both, suggesting that a third gene is involved that has not yet been identified. Compared with PKD1 cases, PKD2 patients are less ill and have a late onset.

The occurrence of renal cysts begins in all nephron regions. Starting from intrauterine development,

The average age at which patients develop symptoms varies greatly, with the peak age of onset at 30 to 60 years of age. Symptoms generally occur at 35 to 45 years of age, and manifestations are as late as 70 to 80 years of age. When symptoms appear, the condition can develop quickly. The disease is usually divided into three phases: asymptomatic in the first phase, symptoms in the second phase, and uremia in the third phase. The earliest symptoms are pain, often in the waist and also in the groin. Some patients have back pain and discomfort in the upper or lower abdomen. Pain may be due to increased renal capsule tension, compression of adjacent organs, bleeding from cysts, etc. A few people can develop renal colic. More than 70% of patients have hypertension, accompanied by hypertension fundus changes, and half of the patients have hematuria. Can be lumpy and bumpy in the abdomen or waist, can be misdiagnosed as liver or spleen enlargement.

The common complications are stones and infections, and they can also be complicated by kidneys.

Family history, typical symptoms and signs suggest the disease. The diagnosis can be confirmed by X-ray, ultrasound or CT. B-ultrasound is an important method for prenatal and postnatal diagnosis of this disease. Polycystic kidney disease can occur at any stage after the second trimester. The earliest diagnosis is 14 weeks of gestation.

By detecting mutations in the PKD1 or PKD2 gene, genetic or prenatal diagnosis of the disease can be performed. For those whose mutations in the PKD gene are not clear, RFLP can be used to perform linkage analysis for prenatal diagnosis.

Usually symptomatic treatment. Early control of hypertension and timely treatment of comorbidities such as infection; late stage correct treatment of chronic renal failure. The kidney is generally not removed unless there is a severe infection, bleeding is life threatening, or a malignant tumor is present. In recent years, kidney transplantation for this disease has achieved certain results. Renal hemorrhage caused by trauma should be prevented, and factors that further damage renal function should be removed, such as preventing or timely controlling infection. According to reports, the average age of death of this disease is 50 years, and the duration of disease onset is 10 to 20 years.

The disease is autosomal dominant, with a high penetrance rate of more than 95%. If the patient lives to 80 years of age, the penetrance rate can reach 100%.