Izvi zvakagadziriswa nehutano zvinokanganisa kusvuta kwe electrolytes
Gitelman syndrome inokonzerwa nehutano hwepfungwa dzakaratidzwa nehuwandu hwakawanda hwe potassium uye magnesium muropa uye yakaderera kubuda kwe calcium mumuguta. Gitelman syndrome inokonzerwa neve genetic mutation inobata rudzi rweprototi dzinodiwa kutakura idzi nemamwe electrolytes kuburikidza ne membrane yeitsvo.
Inofungidzirwa kuti Gitelman syndrome inowanikwa mune imwe yevanhu 40 000, inosangana nevarume nevakadzi vemarudzi ose.
Hakuna mushonga weGitelman syndrome.
Zvinokonzera
Munenge makumi mapfumbamwe nezana ematatu ematambudziko ose anobatanidzwa nehutano husina kuchinja hunozivikanwa seSLC12AC. Izvi zvinokanganisa zvakananga chimwe chinhu chinonzi sodium-chloride cotransporter (NCCT), iro basa rayo rinofanira kudzorera sodium uye chloride kubva kumvura mumasso. Kunyange zvazvo shanduko yeSLC12AC inokonzera chikonzero chikuru cheGitelman syndrome, zvimwe zvinenge zana nemakumi mapfumbamwe nematanhatu zvakachinja zvakare.
Chimwe chikamu chechipiri chekuchinja kweSLC12AC ndiko kuwedzera kwe calcium reabsorption muinso. Kunyange zvazvo izvi zvichiitika zvakare zvinosanganiswa ne malabsorption ye magnesium uye potasium, masayendisiti haasi kunyatsoziva kuti sei kana nei izvi zvichiitika.
Zviratidzo
Vanhu vane Gitelman syndrome dzimwe nguva havaoni zviratidzo zvachose. Apo pavanokura, vanowanzoonekwa shure kwezera remakore matanhatu.
Nhamba yezviratidzo inowirirana zvakananga nechepasi potassium (hypokalemia), low magnesium (hypomagnesemia), low chloride (hypochloremia), uye nepamusoro calcium (hypercalcemia), pamwe neshamwari yakaderera pH.
Zviratidzo zvakajeka zveGitelman zvinosanganisira:
- Generalized weakness
- Kuneta
- Muscle cramping
- Kunyanyisa kunyura kana kuvhota usiku
- Kushuva kwekunyu
Pashoma pfupi, vanhu vanogona kurwadziwa mumimba, kurutsira, chirwere chekuda, kuvhara, kana fivha. Kuora uye chiso paresthesia (kurasikirwa kwekunzwa mumeso) kwave kuchizivikanwa kuti kuitika.
Vamwe vanhu vakuru vane Gitelman syndrome vanogonawo kukura chondrocalcinosis , chimiro chekusaziva-arthritis inokonzerwa nokuumbwa kwekristasium makristasi mumagetsi anobatana.
Kuziva
Gitelman syndrome inowanikwa kubva pakuongorora kwepanyama, kuongorora kwezviratidzo, uye migumisiro yeropa uye urini kuongororwa. Mhinduro yebazi yaizoti:
- Low mazinga e potassium muropa
- Kuderera kwema magnesium muropa
- Low levels of calcium mumugini
Gitelman syndrome inowanzoratidzwa munguva yekuongorora ropa nguva dzose apo zvisina kufanira pasi potassium mazinga anoonekwa. Kana izvi zvikaitika, vanachiremba vanowedzera miedzo kuti vaone kana iri Gitelman syndrome, chirwere chinobatanidzwa chinonzi Bartter syndrome , kana zvimwe zvirwere zvinogona kuitika.
Kurapa
Kurapa kweGitelman syndrome kunonyanya kuratidza zviratidzo zvekutarisira. Potassium uye magnesium supplementation ndiyo nzira yokurapa, iyo inowanzorongedzerwa mumitambo yakakura (sezvo inogara ichinyorwa mumugini). Pakati pezvikamu zvakakomba zvemuviri, musikisi inogona kuiswa mukati.
Vanhu vanorwara neGitelman syndrome, pasinei nokuti vane zviratidzo kana kwete, vanorayirwa munzira dzokuchengetedza utano hwakakwana hwe potassium, magnesium, sodium, uye chloride. Izvi zvinosanganisira kushandiswa kwezvokudya uye kushandiswa kwakakodzera kwe potassium-sparing diuretics kunokonzera mvura kuburikidza nekukandira asi kuchengeta potassium.
> Kwakabva:
> Knoer, N. uye Levtchenko, E. "Gitelman syndrome." Orphanet Journal yeRare Diseases. 2008: 3:22.