Bartter's syndrome – genetically caused tubulopatiya which is shown the expressed violations of electrolytic exchange (gipokaliyemiya), acid-base balance (a metabolic alkaloz), a gipovolemiy, compensatory giperplaziya of the yukstaglomerulyarny (okoloklubochkovy) device of kidneys and a secondary giperaldosteronizm. Bartter's syndrome on clinical symptomatology is diagnosed: a polyuria, lag in psychomotor development, hypotonia of muscles, and also to laboratory indicators of blood and urine. Treatment of a syndrome of Bartter consists in replacement therapy by medicines of potassium, sodium and magnesium, reception of kaliysberegayushchy diuretics, inhibitors of synthesis of prostaglandins and APF.
Bartter's syndrome in urology represents a rare gene mutation - defect of a loop of Genle, inherited on autosomno-recessive type and shown, as a rule, already at children's age. At Bartter's syndrome inability of kidney nefron to detain potassium leads to chronic loss it with urine and to reduction of volume of the circulating blood at normal or lowered HELL. Depending on a type of the struck genes distinguish: neonatal syndrome of Bartter of 1 and 2 types, classical syndrome of Bartter, Gitelman's syndrome. Also the acquired Pseudo-Bartter's syndrome which is characterized by similar manifestations but not followed by pathology of kidney tubules meets.
Reasons of a syndrome of Bartter
The reason of a syndrome of Bartter consider the violation of transport function of kidney tubules which is shown decrease in a reabsorption of ions of Cl (and, respectively, Na) cages of the ascending department of a loop of Genle. It leads to a gipovolemiya, excess of sodium and water in a disteel part of a nefron, to strengthening of secretion of ions of K and sodium - potassium exchange.
Gipokaliyemiya stimulates, in turn, the formation of E2 and I2 prostaglandins leading to strengthening of secretion of a renin and angiotensin II. The chronic giperreninemiya promotes development of a giperplaziya of the yukstaglomerulyarny device of kidneys and the raised production of an aldosteron by adrenal glands. Angiotensin II and cause increase in level of a kidney kallikrein with further increase in maintenance of a bradikinin of plasma of blood. Aldosteron leads to potassium removal strengthening by kidneys. Kallikrein () and prostaglandins block vazopressorny effect of angiotensin II, supporting a normal amount of arterial pressure.
Pseudo-Bartter's syndrome can be caused by long reception of diuretics, a long chlorscarce diet, periodically arising vomiting, excessive reception of laxatives, mukovistsidozy.
Symptoms of a syndrome of Bartter
Bartter's syndrome is shown either right after the birth, or at early children's age. His clinical picture is caused by the available chronic deficiency of potassium. At Bartter's syndrome the polyuria and, as a result, (dehydration), defeat of muscular system (weakness of skeletal muscles, a cardiac muscle, smooth muscles, sluggish pseudo-paralysis, spasms), lag of the child in intellectual and physical development, defeat of nervous system (paresteziya and a rigidnost of extremities) in the absence of arterial hypertension is observed (normal or lowered HELL).
The neonatal syndrome of Bartter is shown during pre-natal development of a fruit by abundance of water, often is followed by premature birth and has a heavy current. At premature newborns the small appetite, drowsiness, bystry loss of weight, a delay of psychomotor development, muscular hypotonia, violations of sight and hearing, a hyperthermia is observed.
The classical syndrome of Bartter is shown at early children's age (after 1 year of life) by a growth inhibition and development of the child, a polyuria, tendency to dehydration, vomiting, locks, a polidipsiya. Gitelman's syndrome demonstrates approximately from 6-year age or later; it is characterized by muscular weakness, fatigue, cases of a returnable tetaniya and has more good-quality current.
At Pseudo-Bartter's syndrome the similar symptoms caused by a gipokaliyemichesky metabolic alkaloz develop; this pathology often occurs at the young girls using diuretics and strictly limited diet for weight loss.
Diagnostics of a syndrome of Bartter
The diagnosis of a syndrome of Bartter usually is established at children's age on clinical symptomatology - a polyuria combination to muscular hypotonia. It is possible to refer low concentration of ions of K, Cl, Na, Mg in serum of blood to laboratory and diagnostic criteria of a syndrome of Bartter and their increased content in urine, a giperkaltsiuriya, a giperfosfatemiya, and also considerable level of a renin and aldosteron of plasma of blood, the strengthened ekskretion of prostaglandins and a kallikrein with urine, absence of arterial hypertension.
The neonatal syndrome of Bartter on the first week of life can be determined by existence of a metabolic alkaloz with a gipokaliyemiya, to the low specific weight of the urine containing a large number of ions of K, Na, Cl, Ca, to the high level of prostaglandins in blood and urine, big activity of a renin and an aldosteron in blood.
At a classical syndrome of Bartter reveal gipokaliyemichesky metabolic with the increased or normal content of calcium, not broken ability to concentrate urine. In case of Gitelman's syndrome sharply expressed gipomagniyemiya and a gipokaltsiuriya is found. On these indicators Bartter's syndrome is diagnosed at an exception of reception of diuretics and depletive, losses of potassium and chlorides through a GIT.
Performance of a biopsy of a kidney which allows to reveal a giperplaziya of the okoloklubochkovy device is in rare instances possible. The syndrome of Barter should be differentiated from chronic vomiting, abuse of diuretic medicines, states connected with deficiency of magnesium, the isolated giperaldosteronizm, chronic nadpochechnikovy insufficiency.
Treatment of a syndrome of Bartter
Traditional treatment of various types of a syndrome of Bartter includes replacement and medicamentous therapy. Ensuring sufficient intake of potassium and chloride of sodium with food, additional administration of drugs of potassium is necessary. In treatment of a neonatal syndrome of Bartter at once after the birth of the child begin the emergency intensive replacement therapy by means of infusions of salt solutions (NaCl, KCl). For potassium loss reduction an organism appoint kaliysberegayushchy diuretics (, , ).
Reception of inhibitors of synthesis of prostaglandins is necessary (NPVS: indometacin, aspirin) and the APF inhibitors (captopril) reducing secretion of a renin and aldosteron. At premature babies because of side effect of indometacin its application it is necessary to otstrochit 4-6 week age before achievement by children. Correction of a gipomagniyemiya at Gitelman's syndrome is carried out by magnesium medicines. For treatment of a syndrome of Pseudo-Bartter it is necessary to eliminate the disease prime cause.
Forecast of a syndrome of Bartter
Early diagnostics and adequate treatment of a classical syndrome of Bartter at children in the period of a neonatality and at early age allows to reduce weight of manifestations, lag in intellectual and physical development. At a neonatal syndrome of Bartter in lack of timely treatment death of the child because of heavy electrolytic violations and dehydration of an organism is possible.
At a heavy and long clinical current of a syndrome of Bartter often develops which can lead to a chronic renal failure.