Kwayar cututtukan Sanfilippo Syndrome da yadda ake yin magani

Wadatacce

• Kwayar cututtukan Sanfilippo Syndrome
• Ire-iren cututtukan Sanfilippo
• Yadda ake yin maganin

Sanfilippo Syndrome, wanda aka fi sani da mucopolysaccharidosis nau'in III ko MPS III, cuta ce ta ƙwayoyin cuta wanda ke tattare da raguwar aiki ko rashi enzyme da ke da alhakin lalata ɓangaren sarkar sarkar, heparan sulfate, wanda ke haifar da wannan abu a cikin ƙwayoyin sel da haifar da alamun cututtukan jijiyoyin jiki, misali.

Alamomin cututtukan Sanfilippo Syndrome suna ci gaba da haɓaka, kuma ana iya fahimtar su da farko ta hanyar matsaloli cikin natsuwa da jinkirta ci gaban magana, misali. A cikin al'amuran da suka fi ci gaba na cutar, ana iya samun canjin tunani da rashin gani, don haka yana da mahimmanci a gano cutar a matakanta na farko don hana farawar alamomi masu tsanani.

Kwayar cututtukan Sanfilippo Syndrome

Alamomin cututtukan Sanfilippo Syndrome yawanci suna da wahalar ganowa, tunda suna iya rikicewa da sauran yanayi, duk da haka suna iya bayyana cikin yara daga shekaru 2 kuma sun bambanta dangane da matakin ci gaban cutar, manyan alamun sune:

• Matsalar ilmantarwa;
• Matsalar magana;
• Ciwon gudawa;
• Cututtuka masu saurin faruwa, galibi a kunne;
• Rashin hankali;
• Baccin wahala;
• Nakasassun kashi;
• Girman gashi akan duwawu da fuskokin yan mata;
• Matsalar maida hankali;
• Liverara girman hanta da baƙin ciki.

A cikin al'amuran da suka fi tsanani, wanda yawanci yakan faru ne a ƙarshen ƙuruciya da ƙuruciya, alamomin ɗabi'a a hankali suke ɓacewa, duk da haka saboda yawan tarin heparan sulfate a cikin ƙwayoyin, alamun neurodegenerative, kamar lalata, misali, na iya bayyana. daidaitawa, wanda ya haifar da asarar hangen nesa da magana, rage ƙwarewar motsa jiki da asarar daidaito.

Ire-iren cututtukan Sanfilippo

Sanfilippo Syndrome za a iya kasafta shi zuwa manyan nau'ikan 4 gwargwadon enzyme wanda babu shi ko kuma yake da ƙarancin aiki. Babban nau'in wannan ciwo sune:

• Rubuta A ko Mucopolysaccharidosis III-A: Babu rashi ko kasancewar wani nauyayyen sifa na enzyme heparan-N-sulfatase (SGSH), wannan nau'in cutar ana ɗaukarsa mafi girma kuma mafi yawa;
• Rubuta B ko Mucopolysaccharidosis III-B: Akwai rashi na enzyme alpha-N-acetylglucosaminidase (NAGLU);
• Rubuta C ko Mucopolysaccharidosis III-C: Akwai rashi na enzyme acetyl-coA-alpha-glucosamine-acetyltransferase (H GSNAT);
• Rubuta D ko Mucopolysaccharidosis III-D: Akwai rashi na enzyme N-acetylglycosamine-6-sulfatase (GNS).

Ganewar cutar Sanfilippo Syndrome an yi ta ne bisa ƙididdigar alamun cututtukan da mai haƙuri ya gabatar da kuma sakamakon gwajin gwaji. Gabaɗaya ana ba da shawarar yin gwajin fitsari don tabbatar da yawan ƙwayoyin suga, da gwajin jini don bincika ayyukan enzymes da kuma bincika nau'in cutar, ban da gwajin kwayar halitta don gano maye gurbin da ke da alhakin cutar .

Yadda ake yin maganin

Jiyya don Sanfilippo Syndrome na nufin rage alamun, kuma yana da mahimmanci a gudanar da ƙungiyar ƙwararru, wato, wanda ya haɗa da likitan yara ko babban likita, likitan jijiya, likitan ido, likitan ido, masanin halayyar ɗan adam, mai ba da magani da kuma likitan kwantar da hankali, alal misali, tuni cewa a cikin wannan ciwo alamun suna ci gaba.

Lokacin da aka gano asalin cutar a farkon matakan cutar, dashen ƙwayar ƙashi zai iya samun sakamako mai kyau. Bugu da ƙari, a farkon matakan yana yiwuwa a guji cewa alamun cututtukan neurodegenerative da waɗanda ke da alaƙa da motricity da magana suna da tsanani ƙwarai, saboda haka yana da mahimmanci a sami zaman motsa jiki da na aikin motsa jiki, misali.

Bugu da kari, yana da mahimmanci idan akwai tarihin iyali ko kuma ma'auratan dangi ne, yana da kyau a ba da shawara kan kwayar halittar dan duba hadarin yaron na kamuwa da ciwon. Don haka, yana yiwuwa a shawarci iyaye game da cutar da yadda za a taimaka wa yaron don samun rayuwa ta yau da kullun. Fahimci yadda ake yin shawarwarin kwayoyin halitta.