The localization of clckb in the distal convoluted tubule explains the phenotypic overlap with gs. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Bartter syndrome, originally described by bartter and colleagues in 1962, represents a set of closely related, autosomal recessive renal tubular disorders characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure. Clinically, bartters syndrome can be divided into at least two groups. Gitelman syndrome gs is a rare, saltlosing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. Infants with the disease can have normal growth and can participate in the usual activities with ongoing treatment. Bartter syndrome, there is a riskof acute volume depletion in subjects with loop of henle defect.
Delayed diagnosis can result in severe dehydration with increased morbidity and mortality. Bartter syndrome and gitelman syndrome are autosomal recessive renal disorders characterized by fluid, electrolyte, urinary, and hormonal abnormalities, including renal potassium, sodium, chloride, and hydrogen wasting. Loss of vision occurs as the lightsensing tissue at the back of the eye the retina gradually deteriorates. Pseudobartter syndrome diuretic abuse, surreptitious vomiting definition bs is a consequence of abnormal function of the kidneys, which become unable to properly regulate the volume and composition of body fluids. Bartter syndrome with sensorineural deafness and kidney failure s. Pdf saltlosing tubulopathies with secondary hyperaldosteronism slt comprise a set of welldefined inherited tubular disorders. A novel variant of bartters syndrome sachin b punatar1, divyashree s2, vishal m jogi1 case reports introduction bartter s syndrome is a rare genetic disorder characterized by renal salt wasting, hypokalemia and metabolic alkalosis. A closely associated disorder, gitelman syndrome, is milder than both subtypes of bartter syndrome. Before the identification of the causal gene defects, the syndrome was classified into distinct phenotypes. Defects in the waterimpermeable thick ascending limb, with its greater salt reabsorption capacity, lead to major salt and water losses similar to the effect of loop diuretics. Bartter syndrome and gitelman syndrome pediatrics msd. The biochemical abnormalities of classical bartter syndrome are all suggestive of a defect related to cl. In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus polyhydramnios. Bartter s syndrome is an autosomal recessive disease characterized by diverse abnormalities in.
The disease is recessively inherited, caused by inactivating mutations in the slc12a3 gene that encodes the thiazidesensitive sodiumchloride cotransporter ncc. Type 5 has been assigned to either a bartter like syndrome caused by gainoffunction mutations of the calcium sensing receptor casr or xlinked polyhydramnios and transient infantile saltwasting maged2. Gs has long been considered a benign tubulopathy, usually. Bartter syndrome bs is a hereditary condition transmitted as an autosomal recessive bartter type 1 to 4 or. We have a support group for bartter and gitelman patients and their caregivers. In contrast, defects in the dct, with its minor capacity of salt. The mainstay of treatment in gitelman and bartter is sodium, potassium and magnesium supplementation. More specifically, the genetic defect of bs impairs the function of a specific structure of the kidney, called. Potassiumsparing diuretics alone are used in gitelman syndrome. Bartter s syndrome with hyperplasia of renomedullary cells.
Hypocalcemia is observed in bartter syndrome type v. Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. Its genetic, which means its caused by a problem with a gene. Bartter syndrome is an inherited renal tubular disorder caused by a defective salt reabsorption in the thick ascending limb of loop of henle, resulting in salt wasting. Novel molecular variants of the nak2cl cotransporter. Gitelman syndrome is a much more common disease than bartter syndrome.
Type iv bartter syndrome studies have identified a novel type iv bartter syndrome. You can choose to get the messages sent to you as emails, or you can choose the read the messages. Neonatal bartters syndrome is characterized by the intrauterine onser of polyuria, leading to polyhydramnios between the 22nd and 24th weeks of gestation. Novel molecular variants of the nak2cl cotransporter gene are responsible for antenatal bartter syndrome. Out of a population of 92 patients with bartter syndrome, five suffered from mild to severe hypoacusia and were selected for. Pdf phenotypic overlap exists among type iii bartter syndrome bs, gitelman syndrome gs, and pseudobsgs pbsgs, which are. Cl transporters in gitelmans and bartters syndromes david b simon. Affected infants typically do not grow and gain weight as expected failure to thrive. Antenatal treatment has proven effective to prevent these problems. Gitelman syndrome was formerly considered a subset of bartter syndrome until the distinct genetic and molecular bases of these disorders were identified.
If you have it, too much salt and calcium leave your. Bartter syndrome, neonatal introduction neonatal bartter syndrome is a rare condition resulting in defective absorption of sodium and chloride in the thick ascending loop of henle resulting in excessive loss of urinary electrolytes and fluid. During treatment with indomethacin in a patient with bartter s syndrome, hypokalemia, high plasma renin concentration, hyperaldosteronism and decreased sensitivity to angiotensin infusion were corrected. Antenatal bartter syndrome is characterized by severe polyhydramnios in mother leading to premature delivery. Mutations in nakcl transporters in gitelmans and bartters syndromes. Gs is usually detected during adolescence or adulthood, either fortuitously or in. The familial cases of classical bartter syndrome are inherited as. Bartter syndrome is a rare inherited disease characterised by a defect in the thick ascending limb of the loop of henle, which results in low potassium levels hypokalemia, increased blood ph, and normal to low blood pressure. Polyhydramnios, transient antenatal bartters syndrome. Bartter syndrome types, causes, symptoms, treatment and. Differential diagnosis the differential diagnosis includes pseudo bartter syndrome diuretic abuse, surreptitious vomiting, gitelman syndrome, cystic fibrosis and celiac disease see these terms.
Postnatally newborns suffer from recurrent episodes of severe dehydration and electrolyte imbalance which can lead to fatal outcome. In neonatal bartter syndrome, maternal polyhydramnios due. As of june 2008 we have over 570 members in the group. Pdf differential diagnosis of bartter syndrome, gitelman syndrome. Gitelman and bartter syndromes loosing salt tubulopathies autosomal recessive inheritance rare diseases. The underlying renal abnormality results in excessive urinary losses of sodi. Maintenance of fluid and electrolyte homeostasis is critical for normal neuromuscular function. Fue descrito por primera vez en 1966 por gitelman y colaboradores. A novel mutation associated with type iii bartter syndrome. Vision loss is one of the major features of bardetbiedl syndrome. No matter where you are in your career, we would welcome you and encourage you to consider joining our community. Bartter syndrome is a genetic disorder characterized by imbalances of ions, such as sodium, chloride, and potassium, within the body. The disease associates hypokalemic alkalosis with varying degrees of.
Mutations in the nak2cl cotransporter nkcc2, a mediator of renal salt reabsorption, cause bartter s syndrome, featuring salt wasting, hypokalaemic alkalosis, hypercalciuria and low blood pressure. Bartter syndrome genetic and rare diseases information. These manifestations are likely to be overlooked and missed under the umbrella of. Bartter syndrome with sensorineural deafness type iv bartter syndrome is a subtype of this tubular disease, and is due to mutations in the bsnd gene. Bartter syndrome bs is a hereditary condition transmitted as an autosomal recessive bartter type 1 to 4 or dominant trait bartter type 5. Hydrochlorothiazide in general may also induce acute. Polyhydramnios, transient antenatal bartters syndrome, and maged2 mutations article pdf available in new england journal of medicine 37419 april 2016 with 541 reads how we measure reads. Bartters syndrome with hyperplasia of renomedullary cells. Bartter syndrome is also an autosomal recessive hypokalemic metabolic alkalosis, but it derives from a mutation to the nkcc2 found in the thick ascending limb of the loop of henle. Because renal prostaglandin e2 secretion contributes to the pathogenesis in bartter syndrome, nsaids eg, oral indomethacin 1 to 5 mgkg once a day should be given. Bardetbiedl syndrome is a disorder that affects many parts of the body. Classic bartter syndrome is a type of bartter syndrome see this term, characterized by a milder clinical picture than the antenatalinfantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin ii. Common characteristics secondary activation of renin angiotensin aldosteron system prevalence gitelman syndrome.
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