bilateral renal absence
Introduction
Bilateral kidney deficiency The bilateral renal deficiency was first discovered by Wolfstrigel in 1671, and Potter made a comprehensive description of the clinical manifestations of the disease in 1946 and 1952. Many investigators have extensively explored various aspects of the syndrome and attempted to explain it with a single etiology, but have never reached consensus. basic knowledge The proportion of illness: 0.0002% Susceptible people: no special people Mode of infection: non-infectious Complications: atrioventricular tube malformation Digestive tract repeat deformity
Cause
Bilateral renal deficiency
Causes:
Normal kidney development requires normal ureteral buds to penetrate the renal primordia at the 5th to 7th week of human embryos. When there are factors that cause changes in morphology or sequence, such as lack of pyelonephritis or ureteral bud formation, it will hinder the occurrence of kidney. Although no kidney tissue can not form the kidney, it is not clear whether the kidney deficiency is the primary development of the kidney or the ureteral bud. In 1965, Potter's research on the fetus and the baby was due to the lack of normal ureteral bud development. It was observed that as long as there is any part of the ureter, kidney tissue can be distinguished. In contrast, in 1960, Ashley and Mostofi did a lot of autopsy, revealing that many cases of kidney deficiency have partial or complete ureters and their non-tubular structures. It has been observed that no ureter is formed in cases of renal dysplasia. Although these findings are contradictory to some extent, they jointly support a theory that ureteral buds directly stimulate the differentiation of renal parenchyma and also indicate that renal differentiation is due to kidney production. The possibility that itself is still.
Pathogenesis:
The kidney of the sick child is usually completely absent. Occasionally, there is a small interstitial containing primary glomerular components, which constitutes an undifferentiated organ. It can be seen that small blood vessels are emitted from the aorta and penetrate the interstitial. The composition of the ball, the ureter may be completely or partially absent, and the bladder is absent or stunted.
Prevention
Bilateral renal deficiency prevention
The cause of this disease is not clear, and it is related to autosomal recessive inheritance. It is usually related to the marriage of a close relative, and the disease cannot be directly prevented. For patients with a family history of suspected chromosomal abnormalities, genetic screening should be carried out to avoid the offspring of the disease caused by chromosome inheritance after marriage. At the same time, attention should also be paid to strengthening nutrition during pregnancy, reasonable diet, and avoiding emotional stimuli that affect embryonic development.
Complication
Bilateral renal deficiency Complications atrioventricular tube malformation digestive tract repeat deformity
50% of patients can be combined with malformations of the cardiovascular and intestinal systems. In male patients, penis development is generally normal, but there are reports of penile dysplasia, 43% of cases have testicular hypoplasia, and ovarian often in women. Atrophy or insufficiency, the vagina is often a closed blind or completely absent, the adrenal gland rarely occurs abnormal or absent. In the ultrasound, the adrenal gland is larger or lying, and other organs are less common.
Symptom
Symptoms of bilateral kidney deficiency, common symptoms, no urinary limb deformity, face, old age
Because the fetus does not produce urine, the amount of pregnant women with too much amniotic fluid, fetal lung hypoplasia, body weight of 1000 ~ 2500g, accompanied by Potter face, showing immature aging, there are protruding skin folds above the eyes, bypass The internal hemorrhoids are semi-circular and sag to the cheeks. The nose is flat and sometimes has no nostrils. The small mandible has a distinct depression between the lower lip and the ankle. The auricle is low, close to the head, and the earlobe is wide and pulled forward. The skin is abnormally dry and slack, the hand is relatively large and claw-shaped, the lungs are not developed, the bell-shaped chest is common, the lower limbs are often arched or scorpion-like, the hips and knees are excessively flexed, and sometimes the lower extremities are fused to form leg deformities.
Examine
Examination of bilateral renal deficiency
It is found that an ultrasound examination of the kidney after anuria may lead to an accurate diagnosis. If abdominal ultrasound cannot be diagnosed, kidney CT can be selected. Radionuclide examination can also confirm BRA. If these examination methods cannot be diagnosed or cannot be performed, the artery can be selected. Contrast examination.
Diagnosis
Diagnosis of bilateral renal deficiency
You should be alert to typical facial features and oligohydramnios. There is no urine within 24 hours after birth. The possibility of BRA should be considered without bladder expansion. However, most newborns with BRA have severe respiratory disorders within 24 hours after birth. Thus, people are neglected the symptoms of anuria. With the widespread use of prenatal ultrasound, the second and third stages of pregnancy can be diagnosed due to the reduction or lack of severe amniotic fluid.
