Autosomal dominant polycystic kidney disease

Introduction to autosomal dominant polycystic kidney Autosomal dominant polycystic kidney, the normal kidney tissue, is replaced by countless small sacs. It looks like a bunch of grapes, sometimes with island-like normal tissue. The disease is divided into 4 types: autosomal recessive polycystic kidney; renal dysplasia; autosomal dominant polycystic kidney; urethral obstruction polycystic kidney. Among them, autosomal dominant polycystic kidney disease, also known as adult polycystic kidney disease (ADPKD), has an incidence rate of about 1/1000, and its penetrance rate is almost complete, which makes all carriers who live above 80 years old show the disease. Some signs of it. About 5% to 10% of end-stage renal failure is caused by autosomal dominant polycystic kidney disease (ADPKD). basic knowledge The proportion of illness: this disease is rare, the incidence rate is about 0.0005%-0.001% Susceptible people: no specific population Mode of infection: non-infectious Complications: urinary tract infection, pyelonephritis, aneurysm

Autosomal dominant polycystic kidney disease

Embryo abnormalities (40%):

The exact cause of this disease is still unclear. Although most of the symptoms appear after adulthood, they begin to form in the fetal period. The cysts originate from the renal tubules. The fluid properties vary from origin to origin, originating from the proximal tubules and in the cyst fluid. Ingredients such as Na+, K+, CI-, H+, creatinine, urea, etc. are similar to plasma; from the distal end, the Na+ and CI- concentrations in the cyst fluid are lower, while the concentrations of K+, H+, creatinine and urea are higher.

Chromosomal abnormalities (35%):

The abnormal gene of most patients is located on the short arm of chromosome 16, which is called ADPKD1 gene. The gene product is still unclear. The abnormal gene of a few patients is located on the short arm of chromosome 4, which is called ADPKD2 gene, and its coding product is not clear. The ages of the two groups differed between onset, hypertension, and renal failure.

Autosomal dominant polycystic kidney disease prevention

It is related to the patient's age, age of onset, degree of control of hypertension, recurrent urinary tract infection, hematuria, etc. With the continuous improvement of dialysis and kidney transplantation techniques, the main cause of death of patients is cardiovascular disease (MI). Heart failure, etc.) and intracranial hemorrhage.

Autosomal dominant polycystic kidney disease Complications urinary tract infection pyelonephritis aneurysm

Urinary tract infections are the most common, mostly lower urinary tract infections, pyelonephritis, cyst infections, etc. Other complications include urinary calculi, obstruction, aneurysm rupture, especially intracranial aneurysm rupture, which accounts for the death of ADPKD patients. 7% to 13%, very rare cases of two kidney malignant tumors.

Autosomal dominant polycystic kidney disease common symptoms proteinuria bacteria infection pyuria hematuria

In the advanced case, the kidney is obviously swollen and easy to diagnose. The urine analysis shows mild proteinuria and different degrees of hematuria, but the red blood cell cast is not common. Even if there is no bacterial infection, pyuria is more common, due to cyst rupture or stone movement. There may also be episodes of obvious gross hematuria. The venous urography is characterized by multiple cysts, and the resulting enlargement of the kidneys, irregular shape, and because of the cystic compression of the renal pelvis, funnel and renal pelvis. It is elongated and spider-like. Because cysts replace functional tissues, typical "worm-like" patterns can be seen in liver and kidney ultrasound and CT scans. Therefore, before intravenous urography shows no typical changes, these Examination can be used as a means of early diagnosis of the disease, and it is necessary to distinguish the single or multiple cysts that have not caused sufficient renal parenchymal damage to cause uremia.

The correct genetic diagnosis can be quickly adopted. Using recombinant DNA technology, it has been found that about 85% of the APD-KD family, the gene mutation called PKD1 is located on the short arm (P) of chromosome 16, which has two specificities. Sexual markers: the alpha globulin complex and the phosphoglycerate kinase gene, most of the remaining families found genetic defects on chromosome 4 (PKD2), but a few families are not related to how the locus is.

Autosomal dominant polycystic kidney disease

Imaging examinations, including ultrasound, CT and magnetic resonance.

CT scans a certain thickness of a certain part of the human body with an X-ray beam. The detector receives X-rays transmitted through the layer and converts it into visible light, which is converted into an electrical signal by photoelectric conversion, and then passed through an analog/digital converter. Analog/digital converter) is converted to digital and input to computer processing. The image formation process is like dividing a selected layer into a plurality of cuboids of the same volume, called voxels.

Diagnosis of autosomal dominant polycystic kidney

diagnosis

According to the medical history, clinical manifestations and laboratory data is not difficult to make a diagnosis.

Differential diagnosis

Mainly consider the identification of multi-atrial simple renal cysts, other identification should consider ARPKD, acquired renal cysts, polycystic kidney dysplasia, etc., early 19-30 ADPKD and multi-atrial simple renal cyst identification.

A multilocular cyst of kidney refers to a localized, large, intact capsule of the kidney that compresses the surrounding kidney tissue and consists of multiple cysts.

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