The pathophysiological and molecular basis of bartters and. Mutations in the romk1 potassium channel gene kcnj1 cause antenatalneonatal bartter syndrome type ii abs ii, a renal disorder that begins in utero, accounting for the polyhydramnios and premature delivery that is typical in affected infants, who develop massive renal salt wasting, hypokalaemic metabolic alkalosis, secondary hyperreninaemic hyperaldosteronism, hypercalciuria and. Potassiumsparing diuretics alone are used in gitelman syndrome. If patients, especially dehydrated infants and young children, are found to have hypokalemia and a high serum bicarbonate concentration on routine labs and do not correct with potassium and chloride replacement treatment, consider. In transient antenatal bartter syndrome 5, the onset of polyhydramnios and labor occur several weeks earlier than in other forms of bartter syndrome. The mainstay of treatment in gitelman and bartter is sodium, potassium and magnesium supplementation. The bp sensitivity to angiotensin ii normalized in the five patients in. Affected infants typically do not grow and gain weight as expected failure. Bartter s syndrome with hyperplasia of renomedullary cells. Measurement of urine electrolytes shows high levels of sodium, potassium, and chloride that are inappropriate for the euvolemic or hypovolemic state of. The disease associates hypokalemic alkalosis with varying degrees of. The term bartter syndrome denotes a group of renal diseases which share a common.
Children and young patients with symptoms of hypokalemia associated with metabolic alkalosis should have bs and gitelman syndrome gs. Bartter syndrome is a rare form of renal potassium wasting characterized by hypokalemia, normal blood pressure, vascular insensitivity to pressor agents, and elevated plasma concentrations of renin and aldosterone. Sep 19, 2016 bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. Biochemical pro le is h ypokalemic metabolic alkalosis, renal salt wasting. In all patients, serum magnesium rose and bicarbonate fell. Bartter syndrome, originally described by bartter and colleagues in 1962, 1 represents a set of closely related, autosomal recessive renal tubular disorders characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure. Bartter and gitelman syndromes are hereditary disorders characterized by a remarkable reduction of salt transportation by the thick ascending limb of the henles loop. Bartter and gitelman syndromes are rare inherited tubulopathies characterized by hypokalaemic, hypochloraemic metabolic alkalosis. This is the first type of the defect, caused by slc12a2 nkcc2 gene mutations.
Bartters syndrome is an autosomal recessive disease characterized by diverse abnormalities in. Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body. The classification of the condition is done by depending on the severity of the symptoms and the genetic mutation responsible for it. Type iv bartter syndrome studies have identified a novel type iv bartter. Lateonset bartter syndrome type ii clinical kidney journal. Seven patients with bartters syndrome were investigated before and after 3 months treatment by enalapril. Syndrome pop culture when innocent heroworship goes unrequited, the consequences can be dire for both the admirer and the admired. Bartters syndrome, first described in 1962, is an autosomalrecessive disease characterised by hypokalaemia, metabolic alkalosis, intravascular volume depletion due to renal salt wasting and hyper or normocalciuria. In 5 families with antenatal bartter syndrome, simon et al. Bartter, american physiologist, 19141983 a rare hereditary disorder, characterized by hyperplasia of the juxtaglomerular area and secondary hyperaldosteronism. The primary defect in both bartter syndrome and gitelman syndrome is an impairment in one of the transporters involved in sodium chloride reabsorption in the loop of henle or the distal tubule, respectively table 1 1,11,12. Its genetic, which means its caused by a problem with a gene.
In transient antenatal bartter syndrome5, the onset of polyhydramnios and labor occur several weeks earlier than in other forms of bartter syndrome. As of june 2008 we have over 570 members in the group. Unsolved issue, carla lessa pena nascimentoa, cecilia lopes garciaa, benita galassi soares schvartsmana,b, maria helena vaisbicha,c. 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. Defects of the angiotensin ii type i receptor and cftr have also being described. 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. In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus polyhydramnios.
Pdf bartter syndrome is an inherited renal tubular disorder caused by a defective salt reabsorption in the thick. Bartter syndrome genetic and rare diseases information. The authors present the case of an 11monthold child with. Bartter syndromelike phenotype in a patient with diabetes. Because the differential diagnosis between bartter syndrome and gitelman syndrome is sometimes difficult, molecular analysis would be a useful.
Bartter syndrome is a group of rare autosomalrecessive disorders caused by a defect in distal tubule transport of sodium and chloride. Bartter syndrome types, causes, symptoms, treatment and. In some cases, bartter syndrome becomes apparent before birth. They are caused by mutations in at least 7 genes involved in the reabsorption of sodium in the thick ascending limb tal of the loop of henle andor the distal convoluted tubule dct. Bartters syndrome results from an obligatory renal tubular loss of sodium due to. In certain families, the disorder may be inherited as an autosomal recessive trait. Bartters syndrome, sometimes a familial autosomal recessive condition, is characterized by hypokalaemia with normal kaliuresis, hyperreninaemia with. Sep 01, 2014 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.
The antenatal form of bartter syndrome is a lifethreatening disorder in which both renal tubular hypokalemic alkalosis and profound systemic symptoms are manifest seyberth et al. Bartter s syndrome occurs with a familial tendency and is an autosomal recessive disorder. Bartter syndrome and gitelman syndrome pediatrics msd. Bartter syndrome and gitelman syndrome should be suspected in children with characteristic symptoms or incidentally noted laboratory abnormalities, such as metabolic alkalosis and hypokalemia. Calcium pyrophosphate dihydrate cppd deposition disease is in most cases idiopathic, but there are familial forms and others in connection with metabolic disease. Successful treatment with indomethacin rene verberckmoes, boudewijn van damme, jan clement, antoon amery and paul michielsen division of nephrology, a kademisch ziekenhuis sintrafal, leuven, belgium bartter s syndrome with hyperplasia of renomedullary cells. Bartter syndrome article about bartter syndrome by the free.
Gitelman syndrome gs, also referred to as familial hypokalemiahypomagnesemia, is a saltlosing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. Gitelmans syndrome gs is caused by lossoffunction mutations in slc12a3 and characterized by hypokalemic metabolic alkalosis, hypocalciuria, and hypomagnesemia. Bartter syndrome bs is a hereditary condition transmitted as an autosomal recessive bartter type 1 to 4 or dominant trait bartter type 5. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb tal of the henle. As inherited disorders of renal tubular excretion and reabsorption of electrolytes, bartter and gitelman syndromes were previously considered as genotypic and phenotypic heterogeneous diseases. Bartter syndrome bs and gitelman syndrome gs are inherited autosomal recessive conditions resulting in defects of renal tubular excretion and reabsorption of electrolytes. Correction of hypokalemia in bartters syndrome by enalapril. Classic bartter syndrome is a type of bartter syndrome see this term. Bartters syndrome with hyperplasia of renomedullary cells kidney.
The underlying renal abnormality results in excessive urinary losses of sodi. We have a support group for bartter and gitelman patients and their caregivers. Bartter syndrome bs 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. The biochemical abnormalities of classical bartter syndrome are all suggestive of a defect related to cl. Patients with types 1, 2 and 4 bartter syndrome have previously been grouped indiscriminately into hyperprostaglandin e syndrome. Case details this is a first born child to a ncm married couple who belong to an ethnic tamil community hailing from cuddalore district in tamil nadu. Bartters syndrome definition of bartters syndrome by. Typical clinical features presented in infancy or childhood include muscle weakness, anorexia, polydipsia, polyuria, failure to thrive and mental and growth. Oct 29, 2019 bartter and gitelman syndromes are rare inherited tubulopathies characterized by hypokalaemic, hypochloraemic metabolic alkalosis. Overview of common and distinctive features the tubular defects in sodium chloride transport produce a clinical. Bartter s and gitelmans syndromes nirmala baskaran selayang hospital slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. Bartter s syndrome is an autosomal recessive disease characterized by diverse abnormalities in.
A novel variant of bartters syndrome sachin b punatar1, divyashree s2, vishal m jogi1 case reports introduction bartters syndrome is a rare genetic disorder characterized by renal salt wasting, hypokalemia and metabolic alkalosis. Bartter syndrome article about bartter syndrome by the. Bartter syndrome, metabolic alkalosis, hypokalemia, gitelman syndrome, tubulopathy. May 30, 2019 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. Causes, diagnosis, and treatment article pdf available in international journal of nephrology and renovascular disease volume 11.
Scribd is the worlds largest social reading and publishing site. A syndrome is not equivalent to a disease as a nosologic form, since the causes of a syndrome may be different. A novel clcnkb mutation in a chinese girl with classic bartter. Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. In a patient with bartter s syndrome increased plasma renin, juxtaglomerularcell hyperplasia, hyperaldosteronism and hypokalemia, but no hypertension, aldosterone excretion and secretion were increased only moderately despite marked elevation of plasma renin, presumably because of suppression of aldosterone production by. Bartter s and gittlemans syndromes linkedin slideshare. Bartter s syndrome is a congenital abnormality characterized by metabolic acidosis, hyperreninemic hyperaldosteronism, and hypokalemia. 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. A closely associated disorder, gitelman syndrome, is milder than both subtypes of. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus amniotic fluid.
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. Bartter syndrome bs is a rare autosomal recessive disorder of salt reabsorption at the thick ascending limb of the henle loop, characterized. In 9 patients from 7 costa rican families with a variant form of antenatal bartter syndrome type 1, kurtz et al. Pathogenesis of bartter s syndrome research jan 5, 2018 07. The pathophysiological and molecular basis of bartter s. Although they share some characteristic features, the clinical and laboratory manifestations may not always allow distinction between them. Gs has long been considered a benign tubulopathy, usually. Consequently, patients suffering from bartter syndrome present with renal salt. The term bartter syndrome denotes a group of renal diseases which share a common denominator of hypokalaemia and metabolic alkalosis. Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. Bartters syndrome occurs with a familial tendency and is an autosomal recessive disorder. Pathogenesis of bartters syndrome bartter syndrome foundation. The pathophysiological and molecular basis of bartters.
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. The localization of clckb in the distal convoluted tubule explains the phenotypic overlap with gs. A brief reminder of the physiology of renal handling of water and electrolytes homeostasis is helpful to understand these two conditions. However, the precise pathway involved is not yet clear. Dec, 20 type iv bartter syndrome studies have identified a novel type iv bartter syndrome. Bartter syndrome is a group of similar rare conditions that affect the kidneys. Bartters syndrome bartter syndrome, is not a single disorder but rather a set of closely related disorders. Despite the hyperaldosteronism, the patients tend to be normotensive, which is at least partially explained by vascular. For example, meningeal syndrome, or irritation of the meninges, may be a result of the disruption of cerebral circulation subarachnoid hemorrhage and a meningococcic infection, and uremic syndrome is the final stage of many kidney. The authors present the case of an 11monthold child with early failure to thrive and severe. Bartter syndrome is outside of the scope of mendelian inheritance.
Renin and angiotensin levels may be elevated, but blood pressure usually remains normal. Nkcc2, a mediator of renal salt reabsorption, cause bartter s syndrome, featuring salt wasting, hypokalaemic alkalosis. If you have it, too much salt and calcium leave your. These bartterlike syndromes share many of the same physiologic derangements, but differ with regard to the age of onset, the presenting symptoms, the magnitude of urinary potassium k and prostaglandin excretion, and the extent of. Bartter syndrome is an inherited renal tubular disorder caused by a defective salt reabsorption in the thick ascending limb of loop of henle, resulting. Prognosis it is severe due to blindness, mental retardation and the ability to develop into a chronic kidney. Different subtypes can be distinguished and various classifications have been. Mutations in the romk1 potassium channel gene kcnj1 cause antenatalneonatal bartter syndrome type ii abs ii, a renal disorder that begins in utero, accounting for the polyhydramnios and premature delivery that is typical in affected infants, who develop massive renal salt wasting, hypokalaemic metabolic alkalosis, secondary. Incredibles wannabe sidekick turned bad guy, from the incredibles 2004. You can choose to get the messages sent to you as emails, or you can choose the read the messages. Bartters syndrome is a rare genetic tubulopathy affecting the loop of henle leading to salt wasting.
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