Hereditary pathologies are mostly incurable. One of these diseases is Bartter's syndrome.
Bartter's syndrome
Bartter's syndrome is a urologic hereditary gene mutation and assumes the presence of a Henle loop defect, which is inherited by the autosomal recessive principle. This pathology begins to manifest itself in early childhood. Against this background, renal cells lose their physiological ability to retain potassium. As a result, his chronic loss with urine develops, which leads to a pathological decrease in the amount of blood circulating through the vessels. At the same time, the pressure can be quite normal or low.
Classification of
The neonatal, classic Bartter syndrome and Gitelman syndrome are distinguished according to the genotype of the mutations:
| species | mutation location | gene product Description | |
|---|---|---|---|
| Neonatal or type 1 | NKCC2( 15q) | Bumetanide-sensitive potassium and sodium, furosemide,2C1 transport protein of the knee loop Henle | It appears in early childhood, accompanied by severe polyuria and hyperthermia, early calcium nephrolithiasis. |
| Type 2 | ROMK( llq24) | Potassium channel protein ATP-dependent | A classic variant of the syndrome, manifested in patients under 25 years of age, accompanied by paresthesias and weakness of muscle tissue, seizures. |
| Type 3 | CLKNKB( 1p36) | C1 - protein transporter | Also occurs in young people, complicated by acute kidney failure, polyuria, but the pressure remains normal. |
| Gitelman's syndrome | NCCT( 16ql3) | Transporter thiazide sensitive C1 and sodium | This type of syndrome is often detected in adults. It is accompanied by hypomagnesemia, calcification of cartilage of joints, permanent arthralgia. |
Causes and Symptoms of
The direct factor leading to the development of Bartter's syndrome is a failure in the transport activity of the renal tubules.
Actually, Bartter's disease is a genetically determined pathology that manifests itself in children and adults:
- Potassium deficiency in the blood( hypokalemia);
- A violation of the acid-base state, in which a significant reduction in the content of chlorine and hydrogen( metabolic alkalosis) is observed in the extracellular fluid;
- Excessive blood uric acid component( hyperuricemia);
- Excessive activity of aldosterone, as well as renin.
The syndrome is characterized by the presence of polyuria with further dehydration, muscular and nervous systemic lesions, the child lags behind in psychophysical development.
- Neonatal type of syndrome is clearly manifested in intrauterine development in the form of polyhydramnios and premature births. The newborn sucks badly, loses weight, constantly sleeps, it is disturbed by temperature, delay of psychomotor and hypotonia of muscles.
- As for the classic syndrome, it begins to assert itself after about a year, accompanied by a lag in growth and mental development, polyuria or constipation.
- The variant according to Gitelman begins to manifest in children about 6 years of age and later, manifested by weakness of muscle tissues, constant fatigue, etc.
- There is also a pseudo-Bartter syndrome, which is also accompanied by a similar symptomatology. It occurs in girls trying to lose weight with the help of diuretics and severely restricting nutrition.
Diagnostics
Diagnostic measures are based on laboratory and instrumental methods. There are laboratory tests of urine and blood, ultrasound of the ureters and kidneys, as well as renal biopsy.
Treatment of
Therapy of Bartter's pathology can be based on substitution or drug treatment. The main task of the therapeutic process is to supply the patient with a sufficient amount of potassium and sodium. The most important is given to diet therapy and the admission of specialized drugs. Anti-inflammatory non-steroid drugs like Indomethacin, ACT inhibitors such as Captopril are prescribed. Magnesium preparations are indicated for the elimination of hypomagnesemia.
In substitution therapy in infants, infusion infusions of salt solutions and potassium-sparing diuretics( Spironolactone or Veroshpiron), which reduce the loss of potassium along with urine, are used.
If pseudo-Bartter syndrome is diagnosed, then therapy is directed to eliminate the causes of the pathological condition. Such patients are often prescribed Amiloride or Triamteren. If terminal renal failure develops, then organ transplantation is indicated.
Forecasts
The classic pathology of Bartter is not completely treated, however, early diagnosis and application of adequate therapeutic measures allows to minimize pathological manifestations and consequences, for example, psychophysical development in children will not be so backward.
If it is a question of a neonatal type of a syndrome, then procrastination here is inadmissible. If the newborn does not receive the necessary help, there will be irreversible consequences and a lethal outcome, which is caused by electrolyte disorders and severe dehydration.
Syndrome does not always end with acute kidney failure. With the right combination of diuretics and NSAIDs, it is possible to correct almost all manifestations. But potassium recovery usually remains a lifelong necessity. If the child has a lag in growth, then hormonal therapy with somatotropin of exogenous type can be used to correct it.