Treatment of dysplasia folk remedies
Dysplasia - abnormal development of organs and tissues. In general, dysplastic manifestations are congenital malformations. Incorrect development can also occur in postembryonic life, that is, after birth, which may be due to the lengthening of the period when the effect of teratogenic factors appears after the embryonic period. The dysplasia of in these cases is manifested at the tissue level.
Renal dysplasia is a broad group of diseases combined with the term "renal dysembryogenesis," which may be hereditary or associated with adverse effects on the fetus of teratogenic factors. Renal dysplasia is a group of diseases characterized by disturbances in the structure of the kidney tissue. Disturbances in the structure of the kidney tissue can clinically appear as an independent disease. However, often the first signs of a painful process appear when the pathologies of the immune system or the microbial-inflammatory process join or develop on their basis. Usually children with this pathology are born from a pregnancy that proceeds with toxicosis in a family burdened by nephropathies and various developmental anomalies.
It is possible to speak about renal tissue dysplasia in violation of differentiation of renal tissue, delay in development with the presence of embryonic structures in the kidney tissue, whose presence is characteristic only of the fetus during the period of intrauterine life. Such signs of insufficient maturity of renal tissue, such as the presence of embryonic-type glomeruli, are not decisive in the diagnosis of renal dysplasia. This provision can be to some extent supported, if only because after the birth as the child develops, further maturation of the kidney structures takes place.
In the first years of a child's life, the frequency of manifestations of insufficient maturity of kidney structures is much higher than in children after 9-10 years, as the growing child continues the process of maturation of the structural elements of the kidneys. However, the late maturation of renal structures is also a sign of dysembryogenesis. Allocate agenesis( congenital absence), hypoplasia( underdevelopment), actually dysplasia and polycystosis( multiple cysts) of the kidneys. These manifestations of impaired renal development are often combined. In the urological clinic, the following classification of renal dysplasia is used: 1 - total( simple and cystic), II - cortico-modular and III - obstructive.
Multiple epiphyseal dysplasia is also called Feuerbank's disease. With this disease, the process of ossification of the epiphysis of bones is disturbed. However, the formation of articular cartilage occurs normally. With multiple epiphyseal dysplasia, the first complaints of pain in the knee joints appear in children aged 5 years and older. Deformations of the joints usually do not occur. At X-ray examination at this time there is a decrease in epiphyses, mainly the heads of the femurs and the epiphysis of the tibia( the shin bone).In the region of the knee joints with the growth of the child, the contours of the epiphyses of the bones become uneven, jagged. A part of the children may have a disintegration of the femoral head. In such cases, in the groin or knee joint on the side of the lesion, there are sharp pains when walking, there is lameness, movements in the hip joints are limited, while motion also appears soreness. All these changes lead to early arthrosis of the hip joints. Changes in the spine are minor. A clear picture of epiphyseal dysplasia develops to 7-8 years of a child's life and at this age is fairly easily recognized, while in the early stages of the disease proper diagnosis presents certain difficulties. Usually such children are diagnosed with diseases that are more common in orthopedic practice. In those cases where all possible manifestations of the disease are expressed, one form of epiphyseal dysplasia should be distinguished from the other. The initial manifestations of these diseases can be very similar: a swinging gait, rapid fatigue, lameness. However, complaints of pain in the legs in children with multiple epiphyseal dysplasia appear earlier. In the older age, children coexist with epiphyseal dysplasia begin to lag behind in growth from their peers, and with multiple epiphyseal dysplasia, growth is usually normal. In spondylo-epiphyseal dysplasia, pain in the joints is more pronounced, and in the affected joints there is a restriction of movement. The axis of the lower extremities with multiple epiphyseal dysplasia is often correct, sometimes a slight valgus deformation of the feet is observed. In spondylo-epiphyseal dysplasia, contractures and deformities of the lower extremities, dislocation of the patella occur more often. In order to accurately distinguish these two diseases from each other, it is necessary to conduct an x-ray examination of the bone system.
The following forms of hereditary systemic diseases of the skeleton are diastrophic dysplasia, pseudo-achondroplasia, as well as a group of diseases with epiphysis of the bones, but with the predominant involvement in the process of the spine and hip joints. This group includes: congenital spondylo-epiphyseal dysplasia, metatropic dysplasia, Knid dysplasia, Diggvy-Melchior-Clausen disease.
Meso-ectodermal focal dysplasia( Goltz-Gorlin syndrome)
This disease is rare enough, i.e., there is only an insignificant probability of its development in a single child. This syndrome is manifested primarily by changes in the skin, which, as a rule, are combined with defects of the skeleton, teeth and eyes. Mostly girls suffer from this ailment. It is believed that the disease is inherited adherently to the X chromosome, dominantly. At the same time, boys who were affected by this disease die in the prenatal period, that is, a woman develops a miscarriage. The mechanism of development of this syndrome is still unknown.
Foci of skin damage in the Goltz-Gorlin syndrome have a distribution in the form of bands. In this case, this distribution of skin lesions coincides with the lines of its cleavage. In addition to skin lesions, a child can see dystrophic changes in teeth and nails, hair abnormalities, such children sweat much less compared to healthy ones( which is also associated with skin malnutrition, namely the sweat glands included in its composition), excessive cornification of the skin onvarious areas of the body, palms, soles, inner surfaces of the joints, deformities of the ears, eye anomalies, especially the defect in the form of a gap( can be located on the edge of the upper or lower eyelid, as well as on the iris), various bone defectsgrowth, asymmetric structure of the face, trunk or extremities, curvature of the spine, underdevelopment or total absence of fingers, fusion of two or more fingers due to cutaneous or cutaneous and joint joints, deformation of hands and feet).When carrying out the X-ray study, a symptom characteristic of the disease is revealed - pathological changes from the long tubular bones, which is noted in 80% of cases of the disease. Of the other changes, bullous or ulcerative rashes on the skin, congenital absence of skin can attract attention. With a more thorough examination in the medical institution, various abnormalities of internal organs are revealed. As the growth and development of some children, mental retardation begins to come to the fore. There can be, however, only skin changes.
Treatment is aimed at accelerating the healing of lesions of the skin, correction of deformities, protection from various injuries. In addition, to achieve a good result against the backdrop of treatment, it must be remembered that a child or adult suffering from this disease should avoid prolonged exposure to sunlight, i.e., hyperinsurance. To this end, you can widely use a variety of protective creams, as well as vitamins A and E.
Ectodermal hydroiodic dysplasia( Clouston syndrome)
Unlike the classical variant of anhydrogic ectodermal dysplasia, Cluston's syndrome is inherited in an autosomal dominant type, which explains the similar incidence of bothsexes. The function of sweat and sebaceous glands is not broken, teeth are usually normal. The disease is characterized by two main signs - hypotrichosis( insufficient hair), which can reach the degree of alopecia( nest or total absence of hair), and dystrophic changes of the nails, mainly in the hypoplastic type( nails become thin, soft, easily broken).There may be hyperpigmentation( darker areas of the skin) in the joint region, periarticular pads, hyperkeratotic changes in the palms and soles, sometimes eye changes( strabismus, premature cataracts), neurologic disorders( mental retardation, seizures), but in most people with this syndrome, these changesare absent. It is possible that the forms that occur with the associated symptomatology are special states.
Treatment of is only symptomatic: restorative drugs, vitamins, zinc preparations( for example, zinc oxide, 50-150 mg per day, depending on age), agents that improve trophism of tissues, anabolic hormones.
Anhydrite ectodermal dysplasia( Christ-Siemens syndrome)
The disease is genetically heterogeneous: in most cases it is inherited in the X-linked type, recessively, much less often - autosomal recessive. The possibility in separate bloodlines and autosomal dominant transmission of a pathological gene is not excluded. The heterogeneity of the X-linked form is also assumed. The classical variant of the disease is observed only in men. In women, the disease proceeds in a relaxed form, manifested by a decrease in the intensity of sweating, minor defects in the teeth, and mild glandular development. This makes it possible in most cases to find heterozygous carriers among women in families, the probability of detection increases with the use of sweating tests, counting the number of sweat pores on the finger pads. Prenatal( prenatal) diagnosis of this disease is provided by an ultrastructural study of the fetal skin taken by the method of fetoscopy at the 20th week of pregnancy. With histological examination, sweat glands are not detected, hypoplasia( underdevelopment) of hair follicles and sebaceous glands can be observed.
The main clinical signs are hypo- or anhidrosis( decrease or total absence of sweating, respectively), hypotrichosis( decreased hair flow) and hypodontia, an unreasonable unreasonable increase in body temperature, which, if unrecognized, can lead to death in early childhood, and toviolation of the mental development of the child. The function of other skin glands is usually preserved. The appearance of such people is typical: a square skull, protruding frontal hillocks and superciliary arches, sunken nose, large deformed ears, thick lips, sunken cheeks, rare teeth with a large distance between the upper incisors, rare thin blond hair on the head, rare eyebrows and eyelashes,enhanced pigment deposition in the skin around the eyes, pseudo-scarlet folding around the mouth and eyes. Excessive dryness of the skin and mucous membranes, increased tendency to inflammatory diseases, atopy( allergic manifestations) are noted. There may be other anomalies( nail dystrophy, follicular keratosis, palmar-plantar keratoderma, eye changes, hearing loss, hypoplasia of the genitals).The disease begins to manifest itself from birth or develops during the newborn period. Adults, as a rule, have a normal life expectancy.
Treatment of is only symptomatic. It is necessary to avoid any kind of overheating( excessive wrapping, hot food, moving games).
Persons with this syndrome are recommended:
1) timely administration of antipyretics in case of an attack of fever, including infectious origin;
2) employment of patients with the exception of work related to the possibility of overheating;
3) medical genetic counseling( in families with X-linked recessive inheritance, the repeated risk of the disease in male children is high);
4) prenatal( prenatal) diagnosis.
Chondroectodermal dysplasia( Ellis-Van Creveld disease)
Chondroectodermal dysplasia( Ellis-Van Creveld disease) refers to a group of diseases characterized by dwarfism, an increase in the number of fingers on the hands and feet, anomalies in the development of teeth, hair, nails, and congenital malformationsheart. In all persons with this disease frequent pneumonia and bronchitis are observed. Ellis-Van Creveld's disease is transmitted according to the autosomal recessive type of inheritance.
Multiple exostosis chondrodysplasia
Multiple exostosis chondrodysplasia , or multiple cartilage cartilage exostoses, is a relatively frequent disease in comparison with other hereditary systemic diseases of the skeleton. It accounts for about 27% of all cases of bone tumors, as well as tumor-like and dysplastic diseases of the musculoskeletal system. This defect in the development of bone cartilage is the appearance of sprouting in the region of the epiphyses and metaphyses of the bone.
This deviation is, in fact, dysplasia of the bone growth zone. Due to the fact that the growth zone is called the fizar zone, this group of diseases was also called dysplasia. Developing exostoses are located in close proximity to the near or far end of the bone( epiphysis).Simultaneously with such a change in the bone system, non-palatation of the sky, syndactyly, curvature of the cervical spine, numerous vascular tumors and some other manifestations are noted in persons with this disease.
On the other hand, one of the most serious complications of the disease is the degeneration of exostoses into malignant tumors, which is noted in 3-25% of all cases. The cartilage covering the exostoses is degenerated, and a massive growth of the cartilaginous tissue takes place. When studying the structure of multiple exostosis chondrodysplasia, the share of family cases was 44.1%, while it is assumed that the disease is transmitted by autosomal dominant type of inheritance. The remaining 55.9% of cases are the result of a newly emerging gene mutation. In 1966, the syndrome was first described, its characteristic manifestations are thin and slowly growing hair, a nose of a pear-shaped form, short fingers with wedge-shaped epiphyses.
This syndrome is called "trichorinophalangeal dysplasia".There are two types of this syndrome. The manifestations described above relate to the first type of disease. The second type combines the same features, but differs from the former in the presence of a delayed mental development of one or another degree in a sick person, as well as multiple cartilaginous exostoses.
Metaphyseal dysplasia
Metaphyseal dysplasia is a heterogeneous group of diseases characterized mainly by metaphysis of bones with relatively normal bony epiphyses and spine. The most striking representative of metaphyseal dysplasia is the group of metaphyseal chondrodysplasia. At the heart of metaphyseal chondrodysplasia is a delay in the growth of the basic bone tissue from the cartilaginous, which occurs as a result of insufficient and incorrect ossification in the metaphyseal region of long tubular bones. The development of epiphyses and the growth of bones from the periosteum is not disturbed. This group of diseases is manifested by growth retardation and limb deformities in children. Currently, the literature describes six forms of diseases related to this group of diseases.
The most severe disease of this group is type Jansen .This pathology is extremely rare. In the world literature, only 10 cases of this disease are clearly described. Sick people have a very characteristic appearance: a disproportionate physique, a lag in growth, the eyes are widely spaced, sometimes there is a bulging of the eyes( exophthalmos), the nose is broad and flattened, the lower jaw is underdeveloped, an incorrect bite is noted. The limbs of such people are somewhat shortened, twisted, joints enlarged in volume, brushes with thick fingers in the form of drumsticks. In the hip and knee joints, flexural contractions are formed, the shins are saber-shaped, the feet are flat valgus. As a result of such bony deformations, children walk on bent legs, the body is slightly tilted forward, the arms hang in front, often reach the knees and below. Flexion contractures cause the patient to squat. A characteristic radiographic evidence is a change in the metaphysis of tubular bones( bones of the lower leg and forearm, hip and shoulder): they are cup-like dilated, the epiphyses remain relatively normal, the spine is not changed. The disease is transmitted by an autosomal dominant type of inheritance.
Schmid type also belongs to this group of diseases of the musculoskeletal system. The disease is transmitted by an autosomal dominant type of inheritance. The first signs of the disease often appear in the second year of life( in some cases before).They include a child's lag in growth, children are distinguished by a "duck" gait and pronounced curvature of the spine in the lumbar region. During the growth of the child, the shortening of the lower extremities is constantly progressing, new deformations( varus deformity of the lower leg and the stop varus installation) appear. Deformations are formed due to the fact that the fibular bone grows more intensively than the tibia. The face is usually not changed, sometimes it is possible to note the presence of protruding frontal bones. The intellect of a sick child does not suffer. Characteristic radiographic changes are manifested mainly in the tubular bones of the lower limbs.
The type of McCusick ( cartilage-hair hypoplasia) is transmitted by an autosomal recessive type of inheritance. With this disease, the child lags behind in growth, which manifests itself after birth, there is a noticeable shortening and thickening of the hands, as well as the dilatation of the joints of the hands. In addition, children with thin, short, rare and blonde hair. Their diameter is significantly reduced in comparison with the norm. Also affected are eyebrows and eyelashes. There is a sharp sensitivity to a serious infection, such as chicken pox, which can be fatal for such children. Such changes are caused by violations on the part of the immunity system. Vaccination against smallpox may lead to death.
Mesomelic dysplasia
Mesomelic dysplasia is a heterogeneous group of diseases of the osteochondral cartilage system, for which, first of all, the shortening of the length of the forearms and shins is characteristic. Mesomelic dysplasia combines 6 types of disease, of which 5 occur even at the time of the birth of the child. The most common type of mesomelic dysplasia is dyschondrosteosis, manifested in adolescence. This disease is characterized by a slight decrease in growth and shortening of limbs in the region of the shins and forearms with various deformations of the part of the forearm. The radial and ulna bones( forearm bones) are disproportionately shortened, as a result of which they seem quite wide. In all likelihood, dyschondrosteosis is transmitted by an autosomal dominant type of inheritance. At the same time, it is more difficult for women.
Mesomelic dysplasias of the Nivergelt type are characterized by low growth of the child and shortening of the limbs, often the lower ones. Shortening is observed in the legs, on the outer or inner side of which there is a bone protrusion, and on the skin - a pit. In the knee joints valgus deformity is noted. The feet are also often deformed. When the upper limbs are affected, short curved forearms attract attention. In the elbow joints, rotational movement and extension are limited. The brush can have ulnar deviation and flexural contractures in the fingers. Radiographic examination of the osseous system reveals a flat tibia, often of a rhomboid shape, the bones of the foot can fuse together. The bones of the forearm are short, curved. As a rule, there is a fusion of the bones of the forearm with each other, which also leads to restriction of movements in the upper limb.
Tanatophorous dysplasia
Thanaphoreal dysplasia was first described in 1967, and it received its name from two Greek words: thanathos - "death", phore - "seeker".This name of this locomotor system is associated with the fact that sick children are either born dead or die from respiratory infections immediately or soon after birth. At the birth of a child with tanatophoric dysplasia, there is a sharp shortening of the limbs, the trunk has a relatively normal length, the head is of rather large size with a pronounced disproportion of the craniofacial part, which resembles those in achondroplasia. A distinctive feature of thanatrophorous dysplasia is a narrowing of the chest, the shape of which resembles a pear. There may be severe hydrocephalus( accumulation of excess fluid in the cavity of the skull), which hinders the birth of a child. In patients with thanatrophorous dysplasia, a wide variety of extraskeletal anomalies of development have been described in the literature: the non-healing of the heart ducts that function in the intrauterine period;various defects of the septum located between the right and left auricles;narrowing of the walls of the aorta, anomalies of the brain and duodenum. The diagnosis of thanatrophorous dysplasia is confirmed when carrying out an X-ray examination of the bone system: a pronounced plattispondilia with bluntly widened intervertebral discs;The lumen of the canal, in which the spinal cord is located, expands in a direction from top to bottom. Femur bones look crooked. The ribs are shortened and flattened, the sternum is depressed. The type of transmission of the disease to date remains unclear.
focal dysplasia Achondroplasia is the most well-studied disease of all forms of hereditary dwarfism with shortened limbs. Children who suffer from true achondroplasia already have the characteristic signs of the disease at birth: limb shortening, the trunk has a normal length, a large head with an enlarged cerebral part of the skull, a face with a bulbous forehead and a flattened nose bridge. At birth, the length of the child may be normal( 50-52 cm) or slightly less than the norm( 44-47 cm).Children born with a body length less than the norm, later have a more pronounced disproportion in their physique and very small growth. In addition, the lesions of the skeleton are more pronounced in them. When X-ray examination determines the characteristic changes in the structure of the spine, which consist in a gradual decrease in the distance between vertebrae in the direction from top to bottom.
Recognize achondroplasia, as a rule, by the presence of all the characteristic features. X-ray examination only confirms the diagnosis.
Hypochondroplasia in the recent past was considered as an easy, "worn out" form of achondroplasia. When hypochondroplasia, in contrast to achondroplasia, the first signs of the disease are present in the child not at birth, but appear to 2-3 years. The greatest intensity they reach by the age of 7 years. The face and head of such children have absolutely normal sizes and proportions. Fingers are broad, usually located, sometimes mildly expressed isodactyly. In this disease, unlike the above, there is no narrowing of the spaces between adjacent vertebrae. The distance between them remains the same throughout the entire length of the spinal column, but normally it should increase in the direction from top to bottom.
This disease is transmitted by an autosomal dominant type of inheritance. And there are a large number of cases of children in the family, where no such anomalies of the musculoskeletal system have ever been noted before. These cases are associated with first emerging genetic mutations( 77.4% of all cases).
Diggvy-Melchior-Clausen dysplasia
In 1962, Diggwy, Melchior and Clausen described the disease in a family where three children were born, born from a virgin marriage between an uncle and a niece. Children identified dwarfism with mental retardation. At the roentgenological examination of the bone system, characteristic changes also appeared. This disease is characterized by dwarfism, a short body with a curvature of the spine, mostly in the lumbar region. Brushes and feet of small size with soft nails. In most children, mental retardation is becoming more and more evident in the process of growth. Diggie-Melchior-Clausen dysplasia is transmitted according to the autosomal recessive type of inheritance.
Spotted chondrodysplasia
Spotted chondrodysplasia is a group of skeletal dysplasia, for which pinpoint calcification of the bony epiphyses is characteristic. This group of diseases includes three forms: the most severe form is an autosomal recessive rhizome form;less autosomal dominant form( Konradi-Hyunnerman), the easiest form - X-linked recessive.
Risomelic spot chondrodysplasia is characterized by pronounced severe limb shortening. Respiratory diseases that develop in a child in the first month of life are a characteristic feature of this form of point chondrodysplasia. Most children die in the infant period of life from various complications.
The same rare but less severe form of point chondrodysplasia is Conrad-Hyunnerman's point chondrodysplasia. This disease does not lead to the death of the child, which is why it is more common in the practice of pediatricians and pediatric orthopedists. This disease is transmitted by an autosomal dominant type of inheritance and is marked by a pronounced variety of manifestations in the same family.
The main manifestation of the disease is the shortening of the limbs, which is often asymmetric. For Conradi-Hyunnerman point chondrodysplasia in the first year of life, a characteristic symptom is the appearance of asymmetric dotted outgrowths of bone tissue that are located near flat bones, in the region of the ends of long tubular bones, and also near the spine. By the end of the first year of the child's life, these growths disappear, and in these places there are bends of the epiphyses of the bones.
Severe forms of Conradi-Hyunnerman's point-like chondrodysplasia end in death in early childhood. With mild lesions, the diagnosis can not be made without an x-ray examination. More often the intermediate form of the disease develops. At 2-3 years of age, the characteristic features of Conrad-Hyunnerman's point-like chondrodysplasia are small growth, a specific face, curvature of the spine and asymmetric shortening of the limbs. The face is flat, the eyes are widely spaced from each other. Hair grows poorly, thin, attracts attention focal baldness, in 20% of cases cataract develops. Curvature of the spine appears in the first year of life and rapidly progresses, which leads to a sharp deformation of the chest and shortening of the trunk. Asymmetric shortening of limbs, contractures in the joints and violations of the axis of the extremities( often the lower ones) can be expressed in different degrees. Radiographic examination of the osseous system determines the deformation of the epiphyses, as a rule, those bones in the area of which bone-dot growths have been found.
X-linked recessive point chondrodysplasia rather strongly resembles Konradi-Hyunnerman's point chondrodysplasia. The difference is that the limb shortening is not asymmetric. A sick child has severe mental retardation. Changes in the skeleton in men are much less pronounced than with the two other forms of point chondrodysplasia discussed above.
Knid Displasia
In 1952, Knish described a child with an unusual disease, which is now known as Knip's dysplasia. In infancy, the limbs are shortened in children. As the child grows, the backlog in growth becomes noticeable, and the disproportion of the physique changes: the trunk is shortened, and the limbs no longer look short, the spine curvature and the restriction of movements in the joints appear. Radiologic examination of the bone system marks platiphondilia, long tubular bones( shoulder, hip, forearm and lower leg bones) are shortened, their metaphysees thickened( they resemble dumbbells in form), ossification of the bony epiphyses is delayed, which is especially noticeable in the head of the femur.
Metatropic dysplasia
Symptoms of the disease are present even at the time of the birth of the child. In newborns, the body has a normal length, the limbs are shortened, and the thorax is narrowed. At some children at survey it is possible to notice a double fold of the skin located above a sacrum which reminds a tail. Later, as the child grows, kyphoscoliosis( curvature of the spine) appears and rapidly progresses, which leads to shortening of the trunk. The face and skull of children with this disease are not changed. The joints of the limbs are enlarged in volume, and the movements in them are limited. Intellect in children with metatropic dysplasia remains normal. It is assumed that the disease is transmitted by an autosomal recessive type of inheritance.
Congenital spondylo-epiphyseal dysplasia
Congenital spondylo-epiphyseal dysplasia has been seen since the birth of the child, but the manifestations of the disease in infancy differ from the typical picture in childhood. At the birth of the child, attention is drawn to the shortening of the limbs, the trunk is of the usual length, the abdomen is enlarged in size, the thorax is barrel-shaped. As the child grows, the growth rate of the spine lags behind the rate of growth of the limbs, which leads to a change in the disproportion of the physique: the trunk is shortened, and the limbs become somewhat longer. The neck of these children is very short, and therefore the head is thrown back and as if "sitting" on the trunk. The face has a characteristic sad expression. On examination, a sharp curvature of the spine in the lumbar region is noted, a characteristic "duck" gait is formed. Sick children quickly get tired with a little physical exertion, complain about pain in the legs, and later in the lower back. When X-ray examination, there are especially characteristic changes in the disease, which are located in the hip joints and spine. On the roentgenogram of the hip joints, a delay in the ossification of the femoral head( sometimes up to 7-8 years of age of the child) is detected, which is often mistaken for a congenital hip dislocation. Changes in the spine are expressed in a decrease in the height of the thoracic vertebrae, the gap between the vertebrae is narrowed. Congenital spondylo-epiphyseal dysplasia is transmitted by an autosomal dominant type of inheritance. The disease is extremely difficult, leading to disability and severe physical deformities.
In children with congenital spondylo-epiphyseal dysplasia, there are also changes on the part of the visual organs, such as myopia, vitreous destruction, lens opacification by type of congenital cataract, astigmatism. The cornea remains unaffected by the pathological process.
One of the manifestations of congenital spondylo-epiphyseal dysplasia is also the cleavage of the soft and hard palate( "wolf mouth").
Spondylo-epiphyseal dysplasia
The basis of this disease is a violation of the development of articular cartilage of bones. This defect extends to both long limb bones( shoulder, forearm bones, hip and leg bones), and to the spine. The manifestations of spondylo-epiphyseal dysplasia are quite diverse and in all cases become noticeable as the child grows. Characteristic for all sick children are the following symptoms: small growth, rapid fatigue, pain in the lower limbs under load. With the progression of the disease, there is a constant increase in the limitation of movements in the large joints( primarily in the hip joints), the subluxation of the patella develops, and the limb axis is disturbed. Some children develop early arthrosis of the hip joints, which lead to the formation of their stiffness and contractures. All these changes in the musculoskeletal system cause a skew of the pelvis, scoliosis, lameness, and in severe cases, children can only move with crutches. When X-ray examination of the bone system reveals a flattening of the epiphyses. In this case, for the most part, the head of the femur bones suffer, and the cervical hips gradually expand and shorten. Characteristic changes of the patella and spine are also revealed. By what type of inheritance is transmitted spondylo-epiphyseal dysplasia, to this day remains unclear.
Classification of renal dysplasia
I. With the identified clinical and morphological characteristics.
1. With cysts:
1) polycystic disease( pediatric and adult types);autosomal recessive and autosomal dominant variants;
2) medullary cystosis( Fanconi nephronophytosis);
3) microcystosis of the kidneys( congenital nephrotic syndrome);
4) other types of cystosis.
2. Without cystic transformation:
1) oligonephronia( oligomeganephronia);
2) segmental hypoplasia.
II.Unidentified "jade-like", morphologically hypoplastic dysplasia:
1) with metabolic disturbances;
2) in combination with nephritis.
Treatment of renal dysplasia
The multiple attempts at therapeutic intervention in various variants of renal dysembryogenesis can be divided into several groups:
1) symptomatic effect;
2) treatment of glomerulonephritis, interstitial abacterial nephritis and pyelonephritis;
3) conservative and substitutive therapy of chronic renal failure.
Often when combined structural and anatomical abnormalities of the urinary system, obstructive uropathy requires active surgical intervention. This type of therapeutic effect is all the more significant, the more the anatomical developmental defect prevails in comparison with the manifestations of renal dysplasia. The need for active surgery arises with renal-stone disease complicated by renal polycystosis.
The positive effect that develops with early nephrectomy( kidney removal) is undoubtedly positive. The operation prevents the emergence of a formidable complication-progressive hypertensive syndrome( high blood pressure syndrome) with secondary changes in the other kidney and the development of chronic renal failure.
Immunological and electron microscopic studies show that in some individuals the phenomena of the kidney process associated with hypersensitivity reactions of delayed type( allergic reactions) are expressed. Since allergic reactions are related to immunity reactions, it is considered necessary to use drugs of the immunosuppressive series. However, their effectiveness is minimal, since in violation of the relationship of immunocompetent cells in the body it is necessary to use not only immunosuppressants, but also drugs that exert a stimulating effect on the immune system. The use of such activators of metabolism, as cocarboxylase, ATP, vitamin B6, is insufficient. In diseases related to dysembryogenesis of the renal tissue, sparing therapy is necessary, not violating the possible compensation measure that develops in conditions of congenital renal inferiority.
When developing signs of infection of the urinary system in a child with renal dysplasia, the use of antibiotics is required. However, isolated chemotherapy, as a rule, does not have the expected effect. Due to the fact that children with structural abnormalities of the kidney tissue have a metabolic disorder, it is advisable to use a salt-free diet.
The rapidly developing syndrome of chronic renal failure is more closely associated with the inherent inadequacy of the structural elements of the kidney. The detection of renal dysplasia, as well as the presence of early manifestations of chronic renal insufficiency in the child, require immediate resolution of the issue of treatment not only with medicines and hemodialysis, but also with surgical intervention for kidney transplantation.