Maple syrup fitsari cuta: a rare cuta da take kaiwa zuwa tsanani neurological cuta

Cuta Maple syrup - shi ne mai kwayoyin cuta wanda ake dangantawa da rayuwa cuta da amino acid din kamar leucine, isoleucine da valine. Su maida hankali a cikin ruwaye na jikin mutum ƙaruwa, haddasa guba, ketoacidosis, convulsions har ma da coma.

labarin

A karo na farko a cikin likita adabi Maple syrup cuta a cikin manya da shi da aka bayyana a cikin 1954 da likita Menkes. Yana samu da sunan saboda peculiar wari da fitsari a cikin marasa lafiya. Masu bincike kama shi hadayu sugar ko itace syrup. Wani, mafi kimiyya sunan - wata cuta daga branched acid.

Yana faruwa game da sau daya a kowace daya ɗari da dubu hamsin jarirai, saboda irin gado na wannan gene - autosomal recessive. Saide cuta wuya kuma sau da yawa results a cikin mutuwar a cikin shimfiɗar jariri.

etiology

Ga ci gaban da cutar iyaye biyu dole ne su kasance dako na m gene ga aikin dehydrogenase alpha keto acid na branched-sarkar. A yanayi, wannan enzyme ne a cikin furotin-arzikin abinci kamar qwai, madara, cuku, nama, kaji da sauransu. A jariri tasowa kwayoyin atsidemiya, wanda shi ne hadarin gaske musamman ga m tsarin.

Maple syrup fitsari cuta ne mafi kowa a Yahudawa, Amish, Mennonites. Wannan shi ne saboda cewa su zauna a cikin rufaffiyar zamantakewa kungiyar, da kuma aure ne mafi kusantar su yafaru tsakanin sosai distantly related, wanda ke nufin cewa yiwuwar samun gaban iyaye na mutated gene alhakin musayar amino acid ƙaruwa muhimmanci.

cututtuka

By na biyu mako bayan haihuwa iya dogara gane wata cuta Maple syrup. Cututtuka su ne ba na gargajiya yaro da hali: ya aka kullum kuka zare jiki, bã su cin, kuma sau da yawa vomits profusely, amai iya ko da faruwa. Tare da ci gaban na maye bayyana convulsions, tsoka sautin qara. Wannan yana bayyana a cikin yaro ta jiki ne ja, kamar yadda suke, "kafana da layi", tare da ketare kafafu a idãnun sãwu biyu. Har da ci gaban opisthotonos.

Idan iyaye ci gaba da watsi da cutar da kuma ba kira likita, na gaba mataki da cutar - wani take hakkin numfashi da kuma sani. Yara zama kasãla, rashin himma, fada cikin wani mãyen sa'an nan coma. Neurological cuta, ko da wani m sakamako kasance ga rayuwa. Wannan fee cewa bai dace kamu da cutar Maple syrup. Marasa lafiya Photos m, da kuma cewa mafi bakin ciki, mafi yawansu yara wanda aka nuna.

Ganewar asali dogara ne a kan bincike na gaban a cikin fitsari da ba-fermented amino acid, kazalika a kan asibiti manifestations.

rarrabuwa

Dangane da tsanani da cututtuka da kuma digiri na inertness dehydrogenase da dama siffofin da cutar:

1. Gargajiya. Jim kadan bayan haihuwar fili lafiya yaro, kamar 'yan kwanaki, da cututtuka fara bayyana. Na farko shi ne rashin ci da kuma kin amincewa da nono, sa'an nan nauyi asara, lokaci na apnea. Sa'an nan guda clonuses sa'an nan clonic-tonic convulsions. Yana ƙare da coma. Enzyme aiki - kasa da kashi biyu cikin dari.
2. Lokaci-lokaci. Da cutar ba bayyana kanta har zuwa watanni shida, kuma ko da har zuwa shekaru biyu na rayuwa. The jawo inji aka canjawa wuri kwayan ko kwayar cutar, alurar riga kafi ko wani wuce kima karuwa a cikin adadin furotin a cikin abinci. Alamun ci gaba incrementally. Enzyme aiki - har zuwa ashirin cikin dari.
3. Tiaminzavisimaya. A ta asibiti manifestations kama da na baya form. A muhimmanci bambanci shi ne, amfani da magani na bitamin B1, wanda muhimmanci rage taro na amino acid a cikin fitsari da kuma jini.

magani

Tun da mutum ya ke kwanciya a asibiti a Jihar tsanani guba, sa'an nan kuma fara da su bi Maple syrup fitsari cutar wajibi ne don detoxification. A saboda wannan dalili, plasmapheresis, peritoneal dialysis, transfussion na jini da aka gyara, kazalika da tilasta diuresis da hemosorption.

Bayan karfafawa daga mãsu haƙuri fara daidaita rayuwa cuta. Da farko shi ne a rage cin abinci tare da rage gina jiki da abun ciki, wani lokacin bayar da shawarar nesantar nono. M kiyaye hakkin ya abinci zai taimaka wajen kauce wa kara lalacewar da juyayi tsarin.

Modern fasahar ya yarda kusan warkar da wata cuta Maple syrup. Kimiyya da shawara da kuma aiwatar a yi da kwayoyi da maye gurbin da muhimmanci amino acid. Za su kula da matakin na metabolism a cikin al'ada iyaka, guje wa guba ko da tare da wata al'ada rage cin abinci.

A yarda da shawarwari, da kuma dace magani zuwa asibiti mutum zai iya zama cikakken rai. Abin baƙin ciki, neurological cuta a cikin yara ne masu tasowa cikin sauri, da kuma iyaye ba su da lokacin da za a yi dace mataki.