Molecular pathophysiology of bartters and gitelmans. Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms ions in the body, including ions of potassium, magnesium, and calcium the signs and symptoms of gitelman syndrome usually appear in late childhood or adolescence. A closely associated disorder, gitelman syndrome, is milder than both subtypes of bartter syndrome. Children and young patients with symptoms of hypokalemia associated with metabolic alkalosis should have bs and gitelman syndrome gs. Downloaded from the university of groningenumcg research database pure. Treatment with 17allylamino17demethoxygeldanamycin. Typical features of amelogenesis imperfecta in two. Bartter syndrome, is not a single disorder but rather a set of closely related disorders. Bartter syndrome genetic and rare diseases information center. Bartter s syndrome with hy percalciuria is not widely recognised as a cause of neph rocalcinosis. Poster presentation open access successful treatment with two siblings affected classic bartter syndrome nguyen ngoc khanh, vu chi dung from 8th appes biennial scientific meeting darwin, australia. Factitious bartters syndrome jama internal medicine. Polyhydramnios and prematurity have been described as associations of the syndrome, and were present in seven of our patients 9. Gitelman syndrome hypocalciuric variant of bartter.
A characteristic feature of this type of cancer is the frequent coexistence of paraneoplastic syndromes about 50% of patients. These defects impair the kidneys ability to reabsorb salt and cause imbalances in various electrolyte and fluid concentrations in the body. Gitelman syndrome gs, also referred to as familial hypokalemiahypomagnesemia, is a saltlosing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. Atypical presentation of classical bartter syndrome as a.
Lateonset bartter syndrome type ii clinical kidney. Hyperplasia of the juxtaglomerular complex wih hyperaldosteronism and hypokalaemic alkalosis. Bartter syndrome is a general term for a group of rare genetic disorders in which there are specific defects in kidney function. Selected key references concerning these syndromes were analyzed, together with a pubmed search of the literature from 2000 to 2011. The medical issues of patients with anorexia and bulimia philip s. Bartter syndrome, gitelman syndrome and homoeopathy. Gastrointestinal losses of potassium were not judged significant. Ris zotero endnote bibtex medlars procite refworks reference manager mendeley.
Management of patients with bartter s and gitelmans syndromes is oriented toward acute and chronic therapy of presenting complications and abnormalities. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Effect of systemic ph, pco 2 and bicarbonate concentration on biliary bicarbonate secretion in the rat. Bartter syndrome type i is a saltlosing renal tubular disorder and mimics the laboratory features of chronic treatment. These tubular alterations frequently lead to polyuria, polydipsia, failure to thrive, water and electrolyte imbalance.
Paraneoplastic syndromes are clinically important because they can be the. Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. The electrolytes affected are primarily mineral salts such as potassium. You can choose to get the messages sent to you as emails, or you can choose the read the messages. As most of the solutefree water is generated by active reabsorption of chloride in the ascending limb of the loop of henle with sodium following passively 31, 32. Common features of this condition include painful muscle spasms tetany, muscle weakness or cramping, dizziness, and salt craving. Patients with types 1, 2 and 4 bartter syndrome have previously been grouped indiscriminately into hyperprostaglandin e syndrome. The most common cause of euvolemic hyponatremia characterized by hypokalemic, hypochloremic, metabolic alkalosis, and normotensive, hyperreninemic hyperaldosteronism. Evidence presented suggests this defect lies beyond the proximal part of the nephron. Understanding bartter syndrome and gitelman syndrome. A collection of disease information resources and questions answered by our. She had a dramatic response to intravenous iv therapy and hypokalemia resolved quickly despite what is normally seen in pseudo bartter syndrome, urine electrolytes on admission were. Background 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.
University of groningen bartter and gitelman syndromes. Bartter syndrome is a group of similar kidney disorders that cause an. However, a rare, severe, but transient form of antenatal bartter s syndrome due to an xlinked melanomaassociated antigen d2 maged2 mutation has recently been described. Clinical and genetic data of 2 patients with different mutations in bartter syndrome type 3 was analyzed while the prognosis was compared after a 6year followup or 2year followup, respectively.
If you have problems viewing pdf files, download the latest version of adobe reader. For language access assistance, contact the ncats public information officer. The underlying renal abnormality results in excessive. The patient denied ingestion of licorice, large quantities of laxatives, or diuretics. Bartter syndrome, nephrogenic diabetes insipidus, primary aldosteronism, and sesame syndrome glomerulopathies. The validity and use of evidence concerning battering and. Bartters syndrome results from an imbalance of vasoactive. Loss of function of clcnkb causes bartter syndrome type 3 bs3, which clearly establishes clcnkb as the key exit pathway for chloride in. These bartter like 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 urinary calcium excretion. Causes, diagnosis, and treatment article pdf available in international journal of nephrology and renovascular disease volume 11. The underlying renal abnormality results in excessive urinary. The clinical features common to both conditions and those which are distinct to each syndrome. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb tal of the henle loop, where 30% of. Antenatal bartter s syndrome is a rare inherited disorder characterized by fetal polyhydramnios and polyuria that is usually detected between 24 and 30 weeks of gestation.
A 29yearold man had a sixmonth history of fatigue and hypokalemia. Affected infants typically do not grow and gain weight as expected failure to thrive. Pdf bartter syndrome is an inherited renal tubular disorder caused by a defective salt reabsorption in the thick ascending limb of. Hypokalaemic nephropathy has been described in patients with chronic potassium depletion. Bartter syndrome and gitelman syndrome, both are characterized by fluid, electrolyte, urinary, and hormonal abnormalities, as well as renal potassium, sodium, chloride, and hydrogen wasting. Frederic crosby bartter september 10, 1914 may 5, 1983 was an american endocrinologist best known for his work on hormones affecting the kidney and his discovery of syndrome of inappropriate antidiuretic hormone and bartter syndrome. 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. Bartter syndrome, type 1, antenatal conditions gtr ncbi.
Bartter syndrome bs is a hereditary condition transmitted as an autosomal recessive bartter type 1 to 4 or dominant trait bartter type 5. Gitelman syndrome orphanet journal of rare diseases. It is characterised by rapid growth and early appearance of distant metastases. Classic bartter syndrome is a saltwasting tubulopathy caused by mutations.
This article is from journal of medical case reports, volume 7. Bartter syndrome nord national organization for rare. Total score ranges from 0 to 3,600 being 0 the worst and 3,600 the best. Incidental diagnosis of asymptomatic neonatal cholelithiasis. In fact, she had ocular and oral symptoms, ocular and salivary. Statistics of bartter s syndrome 4 people with bartter s syndrome have taken the sf36 survey. Mutations of bsnd, which encodes barttin, cause bartter syndrome type iv. During treatment with indomethacin in a patient with bartter s. The effectiveness of chemotherapy in small cell lung. Gitelmans syndrome, also known as hypocalciuric variant of bartters syndrome, is a primary renal tubular disorder characterized by chronic hypo kalaemia. To investigate the phenotypegenotype correlation in different genetic kinds of bartter syndrome type 3 in children. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus amniotic fluid.
In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus polyhydramnios. Physicians should be aware of the possibility of gout as a clinical complication of bartter s syndrome and of the inhibitory effects of alkalosis on urate clearance. Requests for reprints should be addressed to john c. Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body in some cases, bartter syndrome becomes apparent before birth. Flowchart for the diagnosis of bartter syndrome in adult patients. The disease associates hypokalemic alkalosis with varying degrees of. Gitelman syndrome gs, also referred to as familial hypokalemiahypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. Bartter s syndrome bs is a rare and heterogeneous group of tubulopathies with recessive and dominant autosomal inheritance, due to impairment of sodium and chloride resorption in the thick ascending limb of henles loop 1. It has been described in patients with chronic diarrhoea, eating disorders, laxative abuse and. Oculocerebral hypopigmentation syndrome associated with. Bartter syndrome genetic and rare diseases information.
Bartter s syndrome bartter s syndrome gill, j r 19800201 00. 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. Gout as a complication of bartters syndromea possible. As of june 2008 we have over 570 members in the group. Poster presentation open access successful treatment. Alternatively, you can download the file locally and open with any standalone pdf reader. Rica, the frequency of neonatal bartter syndrome is ap proximately 1. Bartter syndrome is a rare congenital disease that manifests as hypokalemia, hyponatremia and hypotension. Bartter syndrome and gitelman syndrome are autosomal recessive saltlosing tubulopathies with hypokalemia, metabolic alkalosis, hyperreninemia, hyperplasia of the juxtaglomerular apparatus, hyperaldosteronism, and, in some patients, hypomagnesemia. Bartters syndrome with hyperplasia of renomedullary cells kidney. If you do not see its contents the file may be temporarily unavailable at the journal website or you do not have a pdf plugin installed and enabled in your browser. Bartter syndrome is outside of the scope of mendelian inheritance.
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. Clinical and laboratory findings were consistent with bartter s syndrome in. This disease is characterized by salt and fluid loss, hypokalemia, metabolic alkalosis, and sensorineural hearing impairment. D department of pharmacology, university of tennessee center for the health sciences, 800 madison ave. Bartter s syndrome appears to be the result of renal tubular defects in the handling of sodium and potassium. In bartter syndrome, reabsorption of sodium chloride. Reversible hypokalemia and bartterlike syndrome during. Syndrome of inappropriate of antidiuretic hormone secretion. Congenital chloride diarrhea misdiagnosed o as pseudo. Alport syndrome, focal segmental glomerulosclerosis, denysdrash syndrome, and nephrotic syndrome. Possibility of neonatal bartter syndrome was supported by high serum renin and aldosterone levels. Systemic alkalosis, a prominent feature of bartter s syndrome, can decrease the clearance of uric acid and may contribute to the hyperuricemia and gout that have been observed. Bartter syndrome has traditionally been classified into 3 main clinical variants. Hypophosphataemia in a patient with gitelinans syndrome.
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