(Bartter syndrome, Gitelman syndrome)
The Bartter syndrome and Gitelman syndrome are characterized by a hyperreninämischen hyperaldosteronism with a fluid, urine and electrolyte abnormality, accompanied by a urinary potassium, sodium and chloride loss, hypokalemia, hyperaldosteronism Hyperreninämie and without hypertension and metabolic alkalosis. Findings may be disturbances in the electrolyte, in growth and sometimes in the neuromuscular field. The diagnosis is based on urine electrolyte measurements and hormone tests (n. D. Red .: and for the lack of blood pressure increase by angiotensin II dose), but typically is a diagnosis of exclusion. The therapy consists of the administration of nonsteroidal antiinflammatory drugs (NSAIDs as inhibitors of prostaglandin synthesis), potassium-sparing diuretics, ACE inhibitors, low dose and electrolyte replacement.
The Bartter syndrome and Gitelman syndrome are characterized by a hyperreninämischen hyperaldosteronism with a fluid, urine and electrolyte abnormality, accompanied by a urinary potassium, sodium and chloride loss, hypokalemia, hyperaldosteronism Hyperreninämie and without hypertension and metabolic alkalosis. Findings may be disturbances in the electrolyte, in growth and sometimes in the neuromuscular field. The diagnosis is based on urine electrolyte measurements and hormone tests (n. D. Red .: and for the lack of blood pressure increase by angiotensin II dose), but typically is a diagnosis of exclusion. The therapy consists of the administration of nonsteroidal antiinflammatory drugs (NSAIDs as inhibitors of prostaglandin synthesis), potassium-sparing diuretics, ACE inhibitors, low dose and electrolyte replacement. Pathophysiology Bartter syndrome and frequent Gitelman syndrome resulting from a disorder of the resorption of sodium chloride. When Bartter syndrome defect in the ascending limb of Henle’s loop is located. When Gitelman syndrome the defect in the distal tubule is. In both syndromes, the deterioration of the sodium chloride-absorption caused a slight volume reduction, which leads to an increase in the renin and aldosterone secretion resulting in loss of potassium and hydrogen. When Bartter syndrome increased prostaglandin secretion and a urine concentration defect is present due to limited generation Markkonzentrationsgradienten. When Gitelman syndrome hypomagnesemia and low calcium excretion in urine are common. In addition, the sodium loss to a chronic mild plasma volume contraction contributes in both syndromes is in spite of high renin and Angiotensinspiegel by a normal to low blood pressure. The clinical features vary from case to case (see Table: Some differences between the Bartter syndrome and Gitelman syndrome). Some differences between the Bartter syndrome and Gitelman syndrome feature Bartter’s syndrome Gitelman syndrome City of kidney failure Ascending loop of Henle (mimics effects of loop diuretics) Distal tubule (mimics effects of thiazides) calcium excretion in the urine normal or elevated, often with nephrocalcinosis decreased serum magnesium levels Normal or Decreases reduced, sometimes greatly Renal prostaglandin E2 production Increases Normal Usual age at presentation before birth to early childhood, often late with mental retardation and stunting childhood to adulthood Neuromuscular symptoms (eg. As muscle cramps, weakness) Rare or weak Frequently etiology Both syndromes are autosomal recessive usually, although sporadic cases and other types of family patterns occur. There are several genotypes of both syndromes. Different genotypes may have different manifestations. Symptoms and complaints The Bartter syndrome is rather prenatally or during infancy or early childhood. The Gitelman syndrome is rather during late childhood or adulthood. The Bartter syndrome can present with intrauterine growth retardation and a Polyhydramnios already prenatally. Different forms of Bartter syndrome may have specific manifestations, including hearing loss, hypocalcemia and nephrocalcinosis, depending on the underlying genetic defect. More often than those with Gitelman syndrome children can be premature infants with Bartter syndrome and after birth have a bad size growth and poor development, and some children have a mental disability. Most patients have a low or low-normal blood pressure and signs of volume depletion. The inability to potassium, calcium and magnesium retention can cause muscle weakness, cramps, spasms, tetany, or fatigue, especially when Gitelman syndrome. Polydipsia, polyuria, and vomiting occur. In general, neither the Bartther syndrome bear an Gitelman syndrome to chronic renal failure. Diagnostic serum and urine electrolyte levels exclusion of similar diseases The Bartter syndrome and Gitelman syndrome in children should with characteristic symptoms or accidentally noticed abnormal laboratory results such. B. metabolic alkalosis and hypokalemia, are suspected. The measurement of urinary electrolytes showed high sodium, potassium and chloride levels that do not match the euvolämischen or hypovolemic status of the patient. The diagnosis is made by excluding other disorders. Primary and secondary aldosteronism can often be detected by a present high blood pressure and a normal or low plasma renin levels (see table: Differential Diagnosis of hyperaldosteronism.). Secret vomiting or the misuse of diuretics can often be confirmed (usually <20 mmol / l) by low chloride concentrations in the urine. Secret diuretic abuse can often be detected by low chloride concentrations in the urine and a urine test for diuretics. The definitive diagnosis is made by genetic tests that are rarely performed due to factors such as the large number of known mutations, large gene size and prohibitive costs. A 24-hour measurement of urinary calcium or calcium / creatinine ratio in the urine can help to distinguish the two from each other syndromes; the levels are elevated in Bartter syndrome is usually normal to and in Gitelman syndrome low. Treatment NSAIDs (for Bartter syndrome) spironolactone or amiloride Low dose ACE inhibitor potassium, magnesium and calcium, because the renal prostaglandin E2 secretion contributes at Bartter syndrome to the pathogenesis, NSAIDs (eg. As indomethacin are 1 to 2 mg / kg helpful po 1 times a day); Patients receive and potassium-sparing diuretics (e.g., spironolactone B. 150 mg p.o. 2 times daily or amiloride 10 to 20 mg p.o. 2 times daily). Potassium-sparing diuretics are used in Gitelman syndrome alone. Low-dose ACE inhibitors can help narrow the aldosterone-mediated electrolyte imbalance. However, no treatment can completely eliminate the loss of potassium, so often a potassium replacement (KCl, 20-40 mEq po once or two times a day) is necessary. Magnesium and calcium supplements may also be required. Exogenous growth hormone may be considered to treat short stature. Important points both syndromes have a restricted sodium chloride absorption, caused a slight reduction in volumes, leading to an increase in renin and aldosterone release, resulting in the loss of potassium and hydrogen. The manifestations vary depending on the genotype, but the size of growth and development may be impaired and electrolyte imbalance can lead to muscle weakness, cramps, spasms, tetany or fatigue. The diagnosis includes a measurement of the electrolyte in the serum and in the urine; Genetic testing is rare. The treatment comprises potassium magnesium and sometimes substitute. Potassium-sparing diuretics and low-dose ACE inhibitors may be used; with Bartter syndrome NSAIDs can be added.