The concept of juvenile nephronophytosis Fanconi includes renal diseases with a violation of the concentration ability with similar manifestations, but different genetic factors leading to the development of chronic renal failure.
Juvenile nephronophthisis Fanconi
Juvenile nephronophthisis is a pathology that is associated with the disturbed structure of the medullary part of the kidney( its cystic degeneration), namely the area of the collecting tubes and the Henle loop and is transmitted from parents to the child by an autosomal recessive type. The disease begins to appear in childhood from 3 or 2 years, the average life expectancy with such pathology is 16-20 years.
Reasons for
The etiologic factor and pathogenetic mechanisms of development are not fully understood to date. It is known that Fanconi's nephronophthisis is transmitted by hereditary path. The course of the disease can be called chronic, as there are no acute periods. To show the first symptoms begin in childhood, specifically about the symptoms can be read below.
The main and initial cause is the change in enzyme composition in the renal tubules, mainly in the distal tubules. Further development of degenerative changes in the epithelium of these tubules is noted, cysts( fluid-filled cavities) appear. Then the tissues are already changing in the glomerular region, they expand and form multiple cysts. With the development of degenerative changes in the medullary layer of the kidneys( with a decrease in the number of functioning nephrons), kidney failure also increases.
The absorption of the majority of microelements in the kidney's tubules is violated, thereby violating its concentration ability.
Scientists have determined that in the retina of the eye, and at the base of small cilia( small cilia in the tubules, necessary for the advancement of the fluid) is the nephrocystin-1 protein. Encodes this protein is the same gene, the pathology of which causes this disease.
Types and symptoms of
Medullary cystic kidney disease is classified into the following types:
- Juvenile Fanconi nephronophtisis, with preserved retinal function;
- Syndrome Seniora( dystrophic changes in the retina of the eye and kidney pathology).
Symptomatic picture begins to manifest in early childhood and up to 6 years. At the forefront are delayed physical development. There are abnormalities in the process of osteogenesis, outwardly the child is small, but all parts of the body are proportional to each other.
A child in the presence of such pathology complains of constant thirst, frequent and profuse urination( polyuria), the child constantly wakes up at night to go to the toilet.
In children with Seniors syndrome, in parallel with the above-mentioned goiter, a progressive decline in vision develops until complete blindness.
In urine, a decrease in the level of calcium, potassium, sodium is found, protein appears in small amounts. The density of urine changes isostenuria. The blood pressure remains unchanged.
Diagnosis
The clinical diagnosis is based on three symptoms:
- Isostenuria determined by laboratory. There is an osmotic alignment - the osmolality of the plasma becomes equal to the osmolarity of the urine.
- Progressive polyuria.
- Polydipsia( increased thirst and increased water demand).
To confirm the diagnosis, it is necessary to perform an ultrasound examination of the kidneys, which reveals thinning of the cortical layer and an increase in the cerebral cortex due to the development of cysts.
In kidney angiography, a decrease in the size of the kidney with a thinning of the cortical layer is also recorded, and multiple cysts are found in the juxtglomerular region.
Excretory urography is used to diagnose juvenile nephronophytosis for visualizing the size of the kidney, the permeability of the tubules. Sometimes the pictures show breaks in the tubules themselves and their cystic degeneration.
As the disease progresses, the level of creatinine and urea in the blood increases, the glomerular filtration rate may decrease. However, immunoassay does not determine the luminescence of immunoglobulin complexes on the basal membranes of the glomeruli, which excludes the autoimmune nature of the disease.
Treatment and prognosis of
There is no treatment that affects the pathogenetic link at the moment.
Symptomatic therapy aimed at maintaining the patient's body is used:
- Sufficient drinking regime( without restrictions);
- Assignment of vitamin D preparations in combination with calcium;
- Infusion preparations containing certain essential trace elements.
- A high-calorie vitaminized diet is prescribed.
The prognosis for cystic medullary renal dysplasia is disappointing, since renal tissue is replaced by cysts, the development of chronic renal failure is inevitable. It will require programmed hemodialysis therapy and kidney transplantation.