{"orpha":89938,"name":"Bartter syndrome type 4","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Bartter syndrome type IV","Bartter syndrome with sensorineural deafness","Bartter syndrome with sensorineural hearing loss"],"definition":"A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-89938/","orphanet_url":"https://www.orpha.net/en/disease/detail/89938","names":{"fr":{"name":"Syndrome de Bartter type 4","synonyms":["Syndrome de Bartter avec surdité de perception","Syndrome de Bartter avec surdité neurosensorielle","Syndrome de Bartter type IV"],"definition":"Forme du syndrome de Bartter, caractérisée par un polyhydramnios maternel, un accouchement prématuré, une perte de sel, une polyurie et une surdité neurosensorielle, associés à une alcalose métabolique hypokaliémique et hypochlorémique, à des concentrations élevées de rénine et d'aldostérone plasmatiques et à une pression artérielle faible à normale. Les taux d'excrétion urinaire du calcium sont variables, et la néphrocalcinose est généralement absente."},"de":{"name":"Bartter-Syndrom Typ 4","synonyms":["Bartter-Syndrom Typ IV","Bartter-Syndrom mit sensorineuraler Schwerhörigkeit"],"definition":"Ein Subtyp des Bartter-Syndroms, der durch mütterliches Polyhydramnion, Frühgeburtlichkeit, Salzverlust, Polyurie und sensorineurale Taubheit gekennzeichnet ist und mit hypokaliämischer und hypochlorämischer metabolischer Alkalose, erhöhten Plasmarenin- und Aldosteronspiegeln und niedrigem bis normalem Blutdruck einhergeht. Die Calciumausscheidung im Urin ist variabel, und eine Nephrokalzinose ist in der Regel nicht vorhanden."},"es":{"name":"Síndrome de Bartter tipo 4","synonyms":["Síndrome de Bartter con hipoacusia neurosensorial","Síndrome de Bartter con sordera neurosensorial","Síndrome de Bartter tipo IV"],"definition":"Es una forma del síndrome de Bartter caracterizada por polihidramnios materno, parto prematuro, pérdida de sal, poliuria y sordera neurosensorial, asociada a alcalosis metabólica hipopotasémica e hipoclorémica, niveles plasmáticos elevados de renina y aldosterona y presión arterial de baja a normal. La tasa de excreción urinaria de calcio es variable y la nefrocalcinosis suele estar ausente."},"it":{"name":"Sindrome di Bartter infantile con sordità neurosensoriale","synonyms":["Sindrome di Bartter con sordità neurosensoriale","Sindrome di Bartter tipo IV"],"definition":"Si tratta di una forma della sindrome di Bartter, caratterizzata da polidramnios, parto prematuro, perdita di sali, poliuria e sordità neurosensoriale, associati ad alcalosi metabolica ipokaliemica e ipocloremica, livelli elevati di renina e aldosterone nel plasma, e pressione sanguigna bassa o normale. I livelli di calcio nelle urine sono variabili, di solito in assenza di nefrocalcinosi."},"nl":{"name":"Syndroom van Bartter type 4","synonyms":["Syndroom van Bartter met sensorineuraal gehoorverlies","Syndroom van Bartter type IV","Syndroom van met sensorineurale doofheid"],"definition":"Een vorm van syndroom van Bartter, gekenmerkt door maternale polyhydramnion, premature bevalling, zoutverlies, polyurie, en sensorineuraal gehoorverlies, en geassocieerd met hypokaliëmische en hypochloremische metabole alkalose, verhoogde gehaltes van renine en aldosteron in plasma, en lage tot normale bloeddruk. De snelheid waarmee calcium wordt uitgescheiden in urine varieert, en nefrocalcinose is doorgaans afwezig."},"pt":{"name":"Síndrome Bartter tipo 4","synonyms":["Síndrome Bartter com perda auditiva neurossensorial","Síndrome Bartter com surdez neurossensorial","Síndrome Bartter tipo IV"],"definition":"Forma de síndrome Bartter caracterizada por polidrâmnio materno, parto pré-termo, poliúria e perda de sal, surdez neurossensorial, associada a alcalose metabólica hipocaliémica e hipoclorémica, níveis elevados de renina e aldosterona plasmáticas e tensão arterial a variar entre baixa a normal. As taxas de excreção urinária de cálcio são variáveis &#8203;&#8203;e a nefrocalcinose habitualmente está ausente."},"pl":{"name":"Dziecięcy zespół Barttera z głuchotą zmysłowo-nerwową","synonyms":["Zespół Barttera typu 4","Zespół Barttera typu IV"]},"cs":{"name":"Kojenecký Bartterův syndrom se senzorineurální hluchotou","synonyms":["Bartterův syndrom, typ 4","Bartterův syndrom, typ IV"]},"uk":{"name":"Синдром Барттера, тип 4","synonyms":["Синдром Барттера, тип IV","Синдром Барттера з сенсоневральною глухотою","Синдром Барттера з сенсоневральною приглухуватістю"],"definition":"A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent."},"zh":{"name":"小儿巴特综合征伴感音神经性聋","synonyms":["小儿Bartter综合征伴感音神经性听力丧失"]},"tr":{"name":"Sensörinöral sağırlık ile seyreden infantil Bartter sendromu","synonyms":["Bartter sendromu tip 4","Bartter sendromu tip IV","Sensörinöral işitme kaybı olan infantil Bartter sendromu"]}},"xrefs":[{"source":"OMIM","code":"602522","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613090","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E26.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB90.43","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"959024909"},{"source":"MONDO","code":"0019524","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3838860","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10508","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":98120,"name":"OBSOLETE: Non-pore-loop channelopathy due to Cl- channel barttin anomaly","status":"inactive"}],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":112,"name":"Bartter syndrome","classifications":[156,188]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"CLCNKA","name":"chloride voltage-gated channel Ka","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18310267[PMID]_18776122[PMID]_12920401[PMID]","hgnc":"2026","ensembl":"ENSG00000186510","omim":"602024","loci":["1p36.13"]},{"symbol":"CLCNKB","name":"chloride voltage-gated channel Kb","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18310267[PMID]_18776122[PMID]_12920401[PMID]","hgnc":"2027","ensembl":"ENSG00000184908","omim":"602023","loci":["1p36.13"]},{"symbol":"BSND","name":"barttin CLCNK type accessory subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23110775[PMID]","hgnc":"16512","ensembl":"ENSG00000162399","omim":"606412","loci":["1p32.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-02-09","source":"11433084[PMID]_12574213[PMID]_31667618[PMID]_18310267[PMID]_16572343[PMID]","terms":[{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000841","label":"Hyperactive renin-angiotensin system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001960","label":"Hypokalemic metabolic alkalosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004727","label":"Impaired renal concentrating ability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000859","label":"Increased circulating aldosterone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000848","label":"Increased circulating renin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000127","label":"Renal salt wasting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025335","label":"Delayed ability to stand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003527","label":"Hyperprostaglandinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003113","label":"Hypochloremia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002917","label":"Hypomagnesemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003081","label":"Increased urinary potassium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000121","label":"Nephrocalcinosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001525","label":"Severe failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Excluded (0%)","criteria":null}]}}