Congenital renal malformations

　　1. Solitary kidney

　　If one kidney is not developed, a single kidney remains, known as a solitary kidney. The absence of the kidney is generally due to the failure of the mesonephric duct to produce an ureteral bud, thus failing to induce the postnatal renal primordium to differentiate into the metanephros. Since the kidney is functional to compensate for the function, all the quiescent glomeruli of this kidney participate in functional action, which can lead to compensatory hypertrophy. Therefore, solitary kidney patients may have no symptoms at all, and they are only discovered during examination.

　　2. Renal hypoplasia

　　Congenital renal hypoplasia refers to the停滞 in renal development during embryogenesis, where the volume of the kidney, if less than 50% of the normal volume, is considered renal hypoplasia. Most patients have no symptoms, but those with complications may present with various symptoms, such as abdominal masses due to the atresia of the ureteral end of the kidney. Women often have ectopic ureteral orifices, leading to dribbling urine. Some may have underdeveloped ureters, with thickened and large ureters, leading to secondary hydronephrosis in the underdeveloped kidney. Ultrasound can detect larger hypoplastic kidneys, IVP can show smaller kidneys, but some may not be visible, and radionuclide scanning can usually show local images. Treatment options: If the contralateral kidney is normal, the hypoplastic kidney can be removed.

　　3. Duplicated kidney

　　A duplicated kidney refers to two renal segments within one renal capsule and two collecting systems. It can be unilateral or bilateral.

　　4. Additional kidney

　　An additional kidney is a third functional kidney other than the two normal kidneys in an individual. It often has no symptoms. Some additional kidneys have malfunctions in the ureter, which can cause fever or pyuria. Those with ectopic ureteral orifices may have urinary incontinence in addition to normal urination. Severe symptoms may require the removal of the additional kidney.

　　5. Hereditary polycystic kidney disease

　　Hereditary polycystic kidney disease is an autosomal recessive genetic disorder, more common in adults than in children, and often occurs bilaterally once it occurs. Symptoms may appear early, often accompanied by liver cystic changes. Newborns with the disease mainly present with oliguria, and symptoms such as anemia, dyspepsia, edema, or dehydration acidosis gradually appear, with rapid and deep breathing. Kidney function impairment occurs gradually, and death finally occurs due to renal failure. Children and young children with the disease present with the above symptoms gradually, with a slow onset. There is no specific treatment, mainly symptomatic treatment, and kidney transplantation can be performed if conditions permit.

　　6. Simple renal cyst

　　Simple renal cysts are a common form of renal cystic change, usually solitary, with a few cases being multiple. This disease is more common in adults and less common in children. Small cysts are asymptomatic and do not require treatment. Larger cysts can be treated by percutaneous puncture to drain fluid, followed by injection of a sclerosing agent, which is effective. Larger cysts can also be surgically removed.

　　7. Polycystic dysplastic kidney

　　Polycystic dysplastic kidney is often unilateral and has no hereditary factor. In the past, it often presented with abdominal mass or dribbling urine, more common in women. Ultrasound, CT, and radionuclide imaging can often make a correct diagnosis. With the widespread implementation of prenatal examinations, most can be diagnosed in the fetal stage. If the contralateral kidney function is normal, kidney resection can be performed.

　　8. Local multicystic renal cysts in the kidney

　　Local multicystic renal cysts are usually solitary, growing at a certain location in the kidney, with a complete capsule outside the cyst, multiple cysts inside, separated by septa, containing serous fluid. As the cysts grow larger, they can compress the renal parenchyma. Asymptomatic individuals may not require treatment, and dynamic observation should be conducted. Cystectomy or partial nephrectomy can be performed when symptoms occur.

　　In addition, there are ectopic kidneys, fused kidneys, abnormal placement of kidneys, and abnormal pelvis and calyces of kidneys.

　　1. Renal agenesis:It can be unilateral or bilateral, with only a few renal tubules in the renal parenchyma, and the kidney has no function.

　　2. Renal hypoplasia:The kidney is not fully developed, with only a little urinary function. If both kidneys are underdeveloped, they often die soon after birth; if only one kidney is underdeveloped, it is often due to underdevelopment and sclerosis of the ipsilateral renal artery, leading to hypertension. After the affected kidney is removed, blood pressure can return to normal. The healthy kidney often compensates by increasing in size.

　　3. Renal hyperplasia or hypertrophy:Compensatory hypertrophy occurs when the contralateral kidney is absent, underdeveloped, or its function decreases by more than 20%, hypertrophy refers to the morphological enlargement of glomeruli and renal tubules without an increase in number. Hyperplasia refers to an increase in the number of renal units, which only occurs before birth.

　　4. Renal cysts.

　　1. Ectopic kidney

　　During fetal development, the renal primordium is located in the pelvis. As the fetus develops, the kidney gradually rises to the normal position. If the rise is obstructed or overly elevated, or mistakenly elevated to the opposite side, an ectopic kidney is formed. It can be located in the pelvis, iliac area, abdomen, chest, and on the opposite side or across.

　　1. Pelvic kidney:Its incidence rate is 1 in every 500 to 1200 people. The kidney is small, flat, spherical, and has a certain degree of anterior rotation; the ureter is also short, with slight twists, the renal function is normal, but it is prone to complications such as urinary tract obstruction, stones, infection, leading to symptoms mainly pain, hematuria, difficulty in urination, bladder irritation, abdominal mass, and gastrointestinal symptoms. There is no need for treatment for asymptomatic ectopic kidneys, and appropriate treatment should be given for complications.

　　2. Intrathoracic kidney:Rarely seen, more common on the left and in males, and can be found at any age. In addition to renal vascular abnormalities, congenital diaphragmatic hernia also occurs, in which small defects can only be accessed through the renal pedicle without other organs entering the thoracic cavity. Generally asymptomatic, a mass on the diaphragm is found during physical examination or chest X-ray. Renal pelvis angiography can confirm the diagnosis, and no treatment is needed.

　　3. Crossed ectopic kidney:One kidney is displaced from the original side across the midline to the opposite side, while its ureter remains on the original side. It can be divided into fused and non-fused types, with the former being more common. An ectopic kidney is generally lower than the normal side, and the renal pelvis is located in front of the kidney, while the ureter still enters the bladder through the original route, opening at the normal location. It often combines other urinary system malformations. Most patients are asymptomatic, or have symptoms such as lower abdominal pain, mass, and compression.

　　2. Fused kidney:Due to the stasis or developmental abnormalities of the original renal tissue block, or the fusion of the two kidneys, whether complete or partial, there are various types such as horseshoe kidney, sigmoid kidney, disc kidney, and lobe kidney. Since the fusion occurs in the early embryonic stage, it is always accompanied by abnormal position and poor renal rotation. The blood supply can come from the sacral artery and the common iliac artery. The horseshoe kidney is the most common type of fused kidney, with about 1 case in every 400 people, more common in males.

　　3. Abnormal renal rotation:During the normal process of development, the renal axis should rotate 90°. There are four types of rotation abnormalities: lateral rotation (unrotated), abdominal midline rotation (incomplete rotation), lateral rotation (reverse rotation), and dorsal rotation (over-rotation). The most common is incomplete rotation, that is, the renal pelvis facing forward; if over-rotated, the renal pelvis faces the back. Urography can make a definite diagnosis, and no treatment is needed if there are no complications.

　　It can refer to the prevention of congenital malformations:

　　1. Pre-marital examination:The first line of defense against the birth of congenital malformed infants. Most congenital malformed infants, once born, are generally uncurable, so preventing the birth of malformed infants is very important. How to prevent it? Mainly through pre-marital physical examination and prenatal diagnosis.

　　We are not unfamiliar with pre-marital examinations, which is a comprehensive and systematic health check-up, mainly including a full physical examination, genetic health inquiries, and lectures on common post-marital sexual life knowledge. Among them, genetic counseling and genetic examination are important contents.

　　The purpose of pre-marital genetic counseling is to understand whether both parties have a history of hereditary diseases and other possible hereditary diseases, in order to determine whether both the bride and groom are suitable for marriage. For example, if one or both parties have dementia or mental illness that has not yet been cured, the probability of passing these on to the next generation is very high; some patients with diseases may appear normal on the outside, but may experience miscarriage, stillbirth, deformity, deafness, muteness, or other physiological defects during childbirth; other diseases such as certain hypertension, cardiovascular diseases, diabetes, and certain hereditary cancers may also be hereditary. If there are similar diseases in the family, the possibility of the offspring suffering from such diseases is relatively high. Through counseling, both parties can also learn valuable knowledge about pre-pregnancy and prenatal health care. For example, the risk of giving birth to congenital intellectual disability and other malformed infants is greatly increased with advanced age, and it is not advisable to drink alcohol, smoke, be tired, or take medicine before pregnancy. During pregnancy, one should avoid catching a cold, direct sunlight, high temperatures, and staying away from chemical hazardous substances.

　　2. Genetic examination:It refers to the identification through blood analysis of whether both parties have genetic diseases or carry hereditary genes that can cause diseases in offspring. Below, we will explain this issue through premarital genetic chromosome examination.

　　Each normal cell nucleus in the human body contains 23 pairs of chromosomes, carrying all the genetic genes of humans. The constant number and structure of 23 pairs of chromosomes are an important guarantee for the normal transmission of human species. Abnormalities can cause a variety of genetic diseases. Some individuals with chromosomal abnormalities appear normal and have no abnormal sensations. We call such individuals chromosomal abnormal carriers, who account for about 0.6% of the general population. Although these individuals have no disease manifestation themselves, they can pass on the abnormalities to their offspring during childbirth, causing chromosomal abnormalities in the embryo and preventing normal growth and development. Some embryos with chromosomal abnormalities die, and the clinical manifestation is spontaneous abortion or stillbirth; some continue to develop into fetuses and are born, becoming children with genetic diseases. There are two situations for children with chromosomal abnormalities: one with disease manifestation, becoming a patient with genetic disease, such as developmental delay, physical malformation, low intelligence, female infertility, primary amenorrhea, male infertility, hermaphroditism, etc.; the other is like their parents and appears normal, becoming a carrier of abnormal chromosomes, but they still have to bear the same pain as their parents when they grow up. Since chromosomal abnormal carriers have no disease manifestation, it is generally impossible to detect them without blood genetic chromosome analysis. Often, they are discovered only when they have consecutive spontaneous abortions during marriage and childbirth, and when they go to the hospital for examination, at which time both partners have already suffered great physical and mental pain.

　　3. Prenatal diagnosis:The last line of defense against the birth of children with congenital diseases.

　　In order to ensure the happiness and health of 'little angels', an effective method is to vigorously carry out prenatal diagnosis. Prenatal diagnosis, also known as antenatal diagnosis, makes an accurate judgment on whether the embryo or fetus has hereditary congenital malformations before birth. It allows for therapeutic abortion of abnormal fetuses, prevents the birth of malformed children, and thus guarantees the health of offspring. Prenatal diagnosis has a history of only over 20 years, but it has developed rapidly. The methods include X-ray, fetal镜, ultrasound, biochemical and enzymatic tests, chromosome diagnosis, and the most commonly used are ultrasound and chromosome examination.

　　1. Ultrasound:It is a painless and non-invasive method, widely used. It can detect the external development of the fetus's face, limbs, spine, etc., and can also directly observe the fetal heart and movement in real-time. However, B-ultrasound should not be done too frequently, as ultrasound can affect the fetus's auditory function and other functions to some extent. Generally, it is advisable to have three B-ultrasounds during early, mid, and late pregnancy.

　　2. Chromosomal examination:It is a type of genetic diagnosis mainly for congenital chromosomal diseases in the fetus, which can diagnose more than 100 types of chromosomal diseases, including Down syndrome, Cri du Chat syndrome, intersex, etc., which B-ultrasound cannot achieve. Chromosomal examination during pregnancy is divided into three stages with three methods:

　　3. Early (8-11 weeks of pregnancy) fetal villus tissue aspiration:Cervical sampling of the chorionic villi can be performed, preferably under the guidance of B-ultrasound. After processing or short-term culture, the karyotype can be analyzed, and enzyme and protein detection can also be performed on the processed chorionic villi tissue. DNA can also be directly extracted for genetic analysis.

　　4. Mid-term (16-20 weeks of pregnancy) amniocentesis:Amniocentesis: amniotic fluid contains fetal cells that are shed, which can be analyzed for karyotype, enzyme and protein detection, sex chromosome analysis, and DNA analysis after in vitro culture, allowing the diagnosis of more than a thousand diseases, and its application is relatively widespread at present.

　　5. Umbilical cord puncture in the late pregnancy (after 27 weeks of pregnancy):Blood from the fetal vein is extracted under the guidance of B-ultrasound. This technology is much more widespread in China than abroad, with a high success rate and relatively high safety. Umbilical cord blood can be used for karyotype or hematology tests, and can also be used for diseases that can be diagnosed using fetal plasma or blood cells due to failure of amniotic fluid cell culture, unavailability of DNA analysis, or when the opportunity for chorionic villus sampling or amniocentesis is missed. In some cases, it can replace genetic analysis. For example, alpha thalassemia can be directly measured for HBarts; hemophilia can be directly measured for coagulation factor VIII, etc.

　　1. Short, long, round, or leaf-shaped kidneys have little clinical significance.

　　2. Horsehoe kidney: the upper or lower poles of the two kidneys are fused along the median line, with lower pole fusion accounting for more than 90%. Sometimes, it can be accompanied by pyelonephritis, kidney stones, and hydronephrosis. During physical examination, the kidneys can often be palpated, and venous pyelography shows fusion of the bilateral kidneys. Because the kidneys are located lower, the ureters are short, prone to compression, causing poor urine flow, so kidney hydronephrosis, stones, and infections are more likely to occur. In addition, most of these patients have poor renal rotation or multiple renal arteries. Patients often have abdominal or lumbar pain, and when the pain is severe, consider ureterolysis, nephropexy, and other procedures. If the renal function of one side is severely impaired, renal resection should be performed.

　　3. Disc-shaped kidney, sigmoid kidney, and nodular kidney are all very rare.

　　I. Food Therapy Formula

　　1. Sea Cucumber Congee:50 grams of diced sea cucumber, 100 grams of glutinous rice, cooked together into congee, seasoned with a little scallion, ginger, and salt. It has the effects of补肾益精, 滋阴补血, suitable for physical weakness, sore loins and knees, insomnia, night sweats, and other symptoms caused by kidney deficiency and yin deficiency.

　　2, Goji Pork Kidney Porridge:Goji 10 grams, pork kidney one (remove the inner membrane, chopped), glutinous rice 100 grams, a little scallion, ginger, salt, boil together to make porridge. It has the effects of nourishing kidney Yin and kidney Yang, consolidating essence and strengthening the waist, suitable for kidney deficiency and exhaustion, both Yin and Yang deficiency, leading to waist and back pain, soreness and weakness of the waist and knees, weakness of the legs and feet, dizziness and tinnitus, etc. This recipe is a classic in kidney deficiency food therapy.

　　3, Lacquer Porridge:Lacquer 6 grams, glutinous rice 100 grams, after cooking the glutinous rice into porridge, add the lacquer powder and dissolve it in the hot porridge, add appropriate amount of sugar. It has the effects of kidney-yang, enriching essence and blood, suitable for kidney-yang deficiency, and deficiency of essence and blood, leading to emaciation, soreness and weakness of the waist and knees, pain, seminal emission, impotence, etc.

　　4, Eucommia Kidney Slices:Eucommia 12 grams, decocted and filtered for use, pork kidney a pair, remove the inner membrane, cut into kidney slices, use Eucommia decoction as sauce, add scallion, ginger, salt, and stir-fry after boiling and eating. It has the effects of nourishing the liver and kidney, strengthening the tendons and bones, and lowering blood pressure, suitable for kidney deficiency and waist pain caused by insufficient liver and kidney in middle-aged and elderly people, and symptoms such as dizziness, tinnitus, and hypertension.

　　5, Roasted Walnut Kernel:Walnut kernel 10 grams, roasted and chewed. It has the effects of kidney-reinforcing, warming the lung, moistening the intestines, and promoting defecation, suitable for kidney deficiency with waist and knee pain, or虚寒 cough asthma and constipation.

　　6, Three-Flavor Egg Soup:Egg 1, remove the core lotus seed, euryale seed, and Chinese yam each 9 grams, sugar appropriate amount. Boil into a medicine soup, eat the egg and drink the soup. Mainly for kidney deficiency.

　　7, Euryale seed and walnut porridge:Euryale seed 30 grams, walnut 20 grams, jujube 10 pieces, rice 50 grams. Boil and take as a regular medicine.补肾纳气定喘.

　　8, Five Flavors Dessert:Broad bean 150 grams, black sesame 10 grams, walnut kernel 5 grams, sugar 120 grams, lard 125 grams. Made into desserts for consumption. Mainly for kidney deficiency.

　　9, Yam meatball:Yam 200 grams, pork 300 grams, mushrooms 30 grams, egg white 1, peanut oil 500 grams, sesame oil, scallion, monosodium glutamate, ginger juice a little, white pepper 5 grams, cornstarch 20 grams, salt appropriate amount. Mix all the ingredients to make meat balls and eat with meals. Mainly for kidney deficiency.

　　10, Mutton and glutinous rice porridge:Fresh lean mutton 3-5 liang, appropriate amount of glutinous rice. Wash the mutton clean, cut into pieces, and cook with glutinous rice. This recipe benefits Qi and blood, strengthens the body, warms the spleen and stomach, and is suitable for insufficient Yang Qi, Qi and blood deficiency, thin and weak body, middle-empty and reverse stomach, aversion to cold and fear of cold, soreness and weakness of the waist and knees, etc.

　　Secondly, in terms of diet

　　Reduce water intake and salt intake, and eat less potassium-rich foods such as oranges, tangerines, and various fruits. Low phosphorus diet such as not eating crabs, and not eating plant protein-rich foods such as peanuts, soy products, beans, various nuts, soy milk, etc., cannot be eaten. Increase calorie intake, such as eating more apples, sweet potatoes, yams, etc.

　　Treatment: There is currently no method to prevent the progression of the disease. For this reason, early detection, prevention and control of complications, and timely and correct treatment of existing complications are crucial. Nephrological replacement therapy should be provided when necessary, which can improve the quality of life and prolong survival time.

　　Main treatment methods

　　1. General Treatment:For patients with obvious renal enlargement, attention should be paid to prevent abdominal injury. When creatinine clearance rate is normal, there is no restriction on diet, intake of water and electrolytes, etc. When patients are in renal failure and uremia, treatment should be handled according to the corresponding treatment principles.

　　2. Cyst Decompression Surgery:Cyst decapitation and decompression surgery has reduced the pressure of the cyst on the renal parenchyma, protected the remaining renal units from compression and further damage, improved the renal ischemic condition, restored some renal function units, delayed the progression of the disease, and had the advantages of lowering blood pressure, reducing pain, improving renal function, and extending survival time for early and middle-stage patients. The key to surgical success is to perform the surgery as early as possible, both sides should be operated on, and the decompression of the cyst must be thorough. Do not give up decompression of small cysts and deep cysts. Decompression treatment for late-stage cases is no longer meaningful. Since Roving reported the application of cyst puncture decompression, there has been debate on whether this surgery can alleviate the patient's pain and prolong life. Since 1987, we have treated 28 cases of polycystic kidney disease (55 sides of kidney) with cyst puncture therapy and achieved good results. Among them, 19 cases underwent puncture and sclerotherapy with follow-up of 1 to 10 years, with normal renal function and good results. The indications are: large cysts (over 4 cm) within 4 in number, the rest are small cysts, renal function is still good, or there is slight change. Fractionated puncture and sclerotherapy were used. The other 9 cases (18 sides of kidney) due to the difference in the size of the cysts, or multiple large cysts, significant changes in renal function, are middle and late-stage patients, and the patients refused surgical treatment. We not only performed puncture and aspiration decompression therapy for the cysts but also prolonged the patients' lives. Five cases have maintained puncture and aspiration decompression for 4 to 5 years, and 2 cases maintained normal renal function, and 3 cases improved renal function.

　　3. Traditional Chinese Medicine Treatment:There have been reports that the treatment principle of warming yang, benefiting kidney, and invigorating the spleen and promoting diuresis has achieved certain efficacy, delaying the progression. The main drugs include Poria, Atractylodes macrocephala, Citrus reticulata, Alisma orientale, Morinda officinalis, Epimedium sagittatum, Psoralea corylifolia, prepared Aconitum carmichaelii, White peony root, Dried ginger, Coix seed, and soybean sprouts, etc.

　　4. Dialysis and Transplantation:When entering the terminal stage of renal failure, dialysis treatment should be given immediately. Hemodialysis should be preferred first. Due to the relatively high hematocrit and blood viscosity in patients with polycystic kidney disease, thrombosis is prone to occur and block the dialysis catheter. If possible, kidney transplantation can be performed.