Bartter syndrome
Bartter syndrome o se kulupu o ni tulaga e seasea tupu e aʻafia ai fatugaʻo.
E i ai genes masei e lima ua iloa e fesoʻotaʻi ma le Bartter syndrome. O le tulaga o loʻo i ai i le fanau mai (fanau mai).
O le tulaga e mafua mai i se faaletonu i fatugaʻo 'mafai ona reabsorb sodium. O tagata na aʻafia e le Bartter syndrome ua tele le sodium na leiloa e ala ile miaga. Lenei mafua ai le faʻatupulaia o le maualuga o le homone aldolone, ma mafua ai fatugaʻo aveʻesea tele tele potassium mai le tino. E taʻua lenei mea o le faʻamaʻimau o le potassium.
O le tulaga e mafua ai foi le paleni o le acid i le toto e taʻua o le hypokalemic alkalosis, e mafua ai le tele o kalisiu i le miaga
O lenei faʻamaʻi e masani ona tupu i taimi o tamaititi. Faʻailoga aofia ai:
- Paneta
- Fua faatatau o le mamafa mauaina e sili maualalo nai lo isi tamaiti o le tutusa tausaga ma feusuaiga (tuputupu aʻe toilalo)
- Manaʻomia e urination sili atu masani nai lo masani (urinary taimi)
- Maualalo le toto
- Maʻa fatugaʻo
- Musika cramping ma vaivaiga
O le Bartter syndrome e masalosalo tele pe a maua e le suʻega ile toto se tulaga maualalo ole potassium ile toto. E le pei o isi ituaiga o fatugaʻo faʻamaʻi, o lenei tulaga e le mafua ai le toto maualuga. E i ai le agaʻi agaʻi i le maualalo o le toto. E ono faʻaalia i suʻesuʻega a le fale suʻesuʻe:
- Maualuga tulaga o potasiuma, kalisiu, ma chloride i le miaga
- Maualuga maualuga o homone, renin ma aldolone, i le toto
- Maualalo le toto chloride
- Metabolic alkalosis
O nei lava faʻailoga ma faʻailoga e mafai foi ona tupu i tagata e tele le inu diuretics (vai fualaʻau) poʻo laxatives. E mafai ona faia suʻega urine e faʻateʻa ai isi mafuaʻaga.
E mafai ona fai se ultrasound o fatugaʻo.
Bartter syndrome e togafitia e ala i le 'ai i meaʻai mauʻoa i potassium poʻo le aveina o potassium faʻapitoa.
Tele tagata e manaʻomia foʻi le faʻaopopo masima ma le magnesium.Faʻafomaʻi ono manaʻomia poloka poloka le mafai gafatia e aveʻesea le potassium. Ole maualuga ole vailaʻau ole vailaʻau ole puipuia ole vailaʻau ole puipuia (NSAIDs) e mafai foi ona faʻaaogaina.
Tamaiti ua i ai le ogaoga tupu tupu aʻe ono tupu tupuola masani ma togafitiga. I le aluga o taimi, o nisi tagata ma le tulaga o le a tupu ai fatugaʻo toilalo.
Valaʻau lau fomaʻi pe a fai o lau tama:
- Maua maso maso
- Le ola lelei
- Urination soo
Faamaimau otaota; Nephropathy faʻamaʻimau masima
- Aldolone tulaga faʻataʻitaʻiga
Dixon BP. Mauaina o le tubular transport abnormalities: Bartter syndrome. I: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Tusitusiga o Pediatrics. 21 ed. Filatelefia, PA: Elsevier; 2020: mata 549.1
Guay-Woodford LM. Nofoaga nephropathies ma atinae abnormalities o le auala urinary. I totonu: Goldman L, Schafer AI, eds. Faʻafomaʻi Goldman-Cecil. 26th lomiga. Filatelefia, PA: Elsevier; 2020: chap 119.
Mauga DB. Faʻaletonu o le paleni o le potassium. I: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner ma Rector's Le Fatugaʻo. 11th lomiga. Filatelefia, PA: Elsevier; 2020: chap 17.