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Schwartz-Jampel ciwo - Wannan cuta ce ta gado wanda aka bayyana a cikin mahara anomalies na kwarangwal kuma yana tare da kasawa a cikin aiwatar da neuromuscular excitability. Marasa lafiya suna fuskantar matsaloli wajen shakatawa da tsokoki na kwangila, dangane da yanayin haɓakar haɓakarsu (na inji da na lantarki), wanda shine babban alamar cutar.
An fara bayyana cutar a cikin 1962 ta hanyar likitoci biyu: RS Jampel (masanin ciwon ido) da O. Schwartz (likitan yara). Sun lura da yara biyu - ɗan'uwa da 'yar'uwa masu shekaru 6 da 2 shekaru. Yaran suna da alamun bayyanar cututtuka (blepharophimosis, jere biyu na gashin ido, nakasar kashi, da dai sauransu), wanda marubutan suka haɗu da rashin daidaituwa na kwayoyin halitta.
Wani mai mahimmanci D. Aberfeld, wanda ya nuna shi ne da wani hali na dabarun da ya yi da ci gaba, kuma ya kuma mayar da hankali kan alamomin neurnological. Dangane da wannan, akwai sau da yawa irin waɗannan sunayen cutar kamar: Schwartz-Jampel ciwo, myotonia chondrodystrophic.
An gane ciwon Schwartz-Jampel a matsayin cuta mai wuyar gaske. Cututtukan da ba kasafai yawanci cututtukan da ake gano su ba su wuce 1 a cikin mutane 2000. Yawaitar ciwon shine darajar dangi, tunda rayuwar mafi yawan marasa lafiya gajeru ce, kuma cutar kanta tana da wahala sosai kuma sau da yawa likitocin da ba su da masaniya a fagen ilimin cututtukan neuromuscular na gado.
An tabbatar da cewa mafi yawan lokuta cutar Schwartz-Jampel na faruwa a Gabas ta Tsakiya, Caucasus da Afirka ta Kudu. Masana dai na danganta hakan da cewa a wadannan kasashe ne adadin auren da ke da alaka da su ya fi na duniya baki daya. A lokaci guda, jinsi, shekaru, launin fata ba su da wani tasiri akan yawan faruwar wannan cuta ta kwayoyin halitta.
Sanadin Schwartz-Jampel Syndrome
Abubuwan da ke haifar da ciwo na Schwartz-Jampel sune cututtuka na kwayoyin halitta. An ɗauka cewa wannan nau'in cututtukan neuromuscular an ƙaddara ta hanyar wani nau'in gado na autosomal recessive.
Dangane da nau'in cutar, masana sun gano abubuwan da ke haifar da ci gabansa:
Nau'in nau'in ciwon Schwartz-Jampel shine nau'in 1A. Gado yana faruwa ne bisa ga nau'in recessive na autosomal, haihuwar tagwaye tare da wannan ilimin cuta yana yiwuwa. Halin HSPG2, wanda ke kan chromosome 1p34-p36,1, yana fuskantar maye gurbi. Marasa lafiya suna samar da furotin da aka canza wanda ke shafar aikin masu karɓa waɗanda ke cikin nau'ikan kyallen takarda, gami da ƙwayar tsoka. Ana kiran wannan furotin perlecan. A cikin nau'in nau'in cuta na gargajiya, perlecan da aka canza yana haɗuwa a cikin adadi na yau da kullun, amma yana aiki mara kyau.
Schwartz-Jampel ciwo irin 1B. Gado yana faruwa ne ta hanyar sake dawowa ta atomatik, kwayar halitta iri ɗaya akan chromosome iri ɗaya, amma perlecan ba a haɗa shi da isassun adadi.
Nau'in ciwon Schwartz-Jampel na nau'in 2. Har ila yau, gado yana faruwa a cikin wani nau'i na autosomal recessive, amma null LIFR gene, dake kan chromosome 5p13,1, mutates.
Duk da haka, dalilin da ya sa tsokoki a cikin ciwon Schwartz-Jampel ke ci gaba da aiki a wannan lokaci ba a fahimta sosai ba. An yi imani da cewa mutated perlecan ya rushe aikin ƙwayoyin tsoka (magungunan ginshiƙansu), amma ba a bayyana abin da ya faru na skeletal da tsoka ba. Bugu da ƙari, wani ciwo (Stuva-Wiedemann ciwo) yana da irin wannan bayyanar cututtuka dangane da lahani na tsoka, amma perlecan ba ya shafa. Ta wannan hanyar, masana kimiyya har yanzu suna ci gaba da gudanar da bincike mai zurfi.
Alamomin cutar Schwartz-Jampel
Alamun cututtukan Schwartz-Jampel an ware su daga duk rahotannin da ake samu a cikin 2008.
Hoton asibiti yana da siffofi masu zuwa:
Tsayin mai haƙuri yana ƙasa da matsakaici;
Tsawancin tonic tsoka spasms wanda ke faruwa bayan motsi na son rai;
Fuska a daskare, “bakin ciki”;
Lebe suna matsawa sosai, ƙananan muƙamuƙi kaɗan ne;
Fissures na palpebral sun kasance kunkuntar;
Tsarin gashi yana da ƙasa;
Fuskar da aka lanƙwasa, bakin ɗan ƙarami ne;
Ƙungiyoyin haɗin gwiwa suna iyakance - wannan ya shafi haɗin gwiwa na interphalangeal na ƙafa da hannaye, ginshiƙan kashin baya, haɗin gwiwa na femoral, haɗin gwiwar hannu;
An rage raƙuman tsoka;
Tsokoki na kwarangwal suna da hypertrophed;
An gajarta teburin kashin baya;
Wuyan gajere ne;
An gano shi tare da dysplasia na hip;
Akwai osteoporosis;
Ƙafafun ƙafafu sun lalace;
Muryar marasa lafiya siriri ce kuma babba;
Hannu yana da lahani, an gajarta palpebral fissure, fatar ido a gefen waje na ido suna hade, cornea yana da ƙananan, sau da yawa akwai myopia da cataracts;
Gilashin ido suna da kauri, tsayi, girmansu ba shi da matsala, wani lokacin akwai layuka biyu na gashin ido;
An saita kunnuwa ƙasa;
Sau da yawa ana samun hernia a cikin yara - inguinal da umbilical;
Yara maza suna da ƙananan ƙwai;
Tafiya tana yawo, agwagwa, sau da yawa akwai kafa;
Yayin da yake tsaye da kuma yayin tafiya, yaron yana cikin rabi-squat;
Maganar mai haƙuri yana da ban tsoro, ba a sani ba, salivation yana da halayyar;
Hankalin tunani yana damuwa;
Akwai raguwar girma da ci gaba;
Shekarun kashi bai kai shekarun fasfo ba.
Bugu da kari, bayyanar cututtuka na Schwartz-Jampel ciwo bambanta dangane da phenotype na cutar:
Phenotype 1A alama ce
Halin 1A phenotype yana nuna farkon bayyanar cutar. Wannan yana faruwa kafin shekaru 3. Yaron yana da matsakaicin haɗiye da wahalar numfashi. Akwai kwangila akan haɗin gwiwa, waɗanda zasu iya kasancewa duka daga haihuwa kuma ana samun su. Ƙwayoyin marasa lafiya sun kasance gajere, kyphoscoliosis da sauran anomalies a cikin ci gaban kwarangwal suna furta.
Motsi na yaro yana da ƙananan, wanda aka bayyana ta hanyar matsalolin yin motsi. Fuskar ba ta da motsi, tana tunawa da abin rufe fuska, lebe suna danne, bakin yana da karami.
Tsokoki suna da hypertrophed, musamman tsokoki na cinya. Lokacin zalunta yara tare da yanayin yanayin Schwartz-Jampel na yau da kullun, yakamata mutum yayi la'akari da babban haɗarin haɓaka rikice-rikicen sa barci, musamman m hyperthermia. Yana faruwa a cikin 25% na lokuta kuma yana da mutuwa a cikin 65-80% na lokuta.
Rashin hankali ya bambanta daga mai sauƙi zuwa matsakaici. A lokaci guda kuma, 20% na irin waɗannan marasa lafiya ana gane su a matsayin masu raunin hankali, kodayake akwai kwatancin lokuta na asibiti lokacin da hankalin mutane ya yi yawa.
Ana lura da raguwa a cikin ciwon myotonic yayin shan Carbamazepine.
Phenotype 1B alama ce
Cutar tana tasowa tun yana jariri. Alamun asibiti suna kama da waɗanda aka lura a cikin bambance-bambancen gargajiya na yanayin cutar. Bambancin shi ne cewa sun fi bayyana. Da farko, wannan ya shafi cututtukan somatic, musamman numfashin mara lafiya yana wahala.
Ƙirar kwarangwal sun fi tsanani, ƙasusuwan sun lalace. Bayyanar marasa lafiya yayi kama da marasa lafiya da ke fama da ciwo na Knist (gajerewar gaɓoɓi da ƙananan gaɓɓai). Hasashen wannan phenotype na cutar ba shi da kyau, sau da yawa marasa lafiya suna mutuwa tun suna ƙanana.
Phenotype 2 alama ce
Cutar ta bayyana kanta a lokacin haihuwar yaro. Dogayen kasusuwa sun lalace, haɓakar haɓakar haɓakar haɓakar haɓakar haɓakar haɓakar haɓakar ƙwayoyin cuta yana da ƙarfi.
Mai haƙuri yana da haɗari ga raguwa mai yawa, raunin tsoka, cututtuka na numfashi da haɗiye suna da halaye. Yara sau da yawa suna tasowa hyperthermia mara kyau. Hasashen ya fi muni fiye da phenotypes 1A da 1B, cutar galibi ta ƙare tare da mutuwar majiyyaci tun yana ƙarami.
Siffofin hanyar asibiti na cutar a cikin yara:
A matsakaita, cutar ta fara bayyana a farkon shekara ta rayuwar yaro;
Yaron yana da wahalar tsotsa (ya fara tsotsa bayan wani lokaci bayan an haɗa shi da nono);
Ayyukan mota yana da ƙasa;
Zai yi wuya yaro ya ɗauki wani abu da yake riƙe da hannunsa nan da nan;
Ana iya kiyaye haɓakar haɓakar hankali, ana lura da cin zarafi a cikin 25% na lokuta;
Yawancin marasa lafiya sun sami nasarar kammala karatunsu daga makaranta, kuma yaran suna zuwa makarantar gabaɗaya, ba cibiyoyin ilimi na musamman ba.
Binciken cututtukan Schwartz-Jampel
Binciken mahaifa na Schwartz-Jampel ciwo zai yiwu. Don wannan, ana amfani da duban dan tayi na tayin, lokacin da aka gano kwarangwal na kwarangwal, polyhydramnios, da gurɓataccen motsin tsotsa. Ana iya ganin kwangilar haihuwa a cikin makonni 17-19 na ciki, da kuma raguwa ko nakasar hip.
Binciken biochemical na maganin jini yana ba da ɗan ƙaramin karuwa ko matsakaici a cikin LDH, AST da CPK. Amma a kan bangon haɓakar kansa ko tsokanar mummunan hyperthermia, matakin CPK yana ƙaruwa sosai.
Don tantance cututtuka na tsoka, ana yin electromyography, kuma canje-canje za su zama sananne tun lokacin da yaron ya kai watanni shida. Hakanan biopsy na tsoka yana yiwuwa.
Kyphosis na kashin baya, osteochondrodystrophy ana gano shi ta hanyar gwajin X-ray. Launuka na tsarin musculoskeletal suna bayyane a fili yayin MRI da CT. Wadannan hanyoyin bincike guda biyu ne likitocin zamani ke amfani da su akai-akai.
Yana da mahimmanci don yin ganewar asali tare da cututtuka irin su: Knist's disease, Pyle's disease, Rolland-Desbuquois dysplasia, myotonia na asali na nau'in farko, Isaacs ciwo. Daban-daban pathologies yana ba da damar irin wannan hanyar bincike ta zamani kamar bugun DNA na kwayoyin halitta.
Jiyya na Schwartz-Jampel ciwo
A halin yanzu, babu wani pathogenetic magani na Schwartz-Jampel ciwo. Likitoci sun ba da shawarar cewa marasa lafiya su bi al'amuran yau da kullun, iyakance ko kawar da wuce gona da iri na jiki, saboda shine mafi girman abin da ke motsa ci gaban cututtukan cututtukan.
Dangane da gyaran marasa lafiya, ana zaɓar waɗannan ayyukan akan mutum ɗaya kuma zasu bambanta dangane da matakin cutar. Ana ba da shawarar marasa lafiya motsa jiki na motsa jiki tare da allurai da aikin motsa jiki na yau da kullun.
Amma game da abinci mai gina jiki, ya kamata ku ware abincin da ke dauke da adadi mai yawa na potassium salts a cikin abun da ke ciki - waɗannan su ne ayaba, busassun apricots, dankali, raisins, da dai sauransu. Abincin ya kamata ya kasance daidai, mai arziki a cikin bitamin da fiber. Ya kamata a ba da jita-jita ga mai haƙuri a cikin nau'in puree, a cikin nau'in ruwa. Wannan zai rage wahalhalu tare da tauna abinci da ke faruwa a sakamakon spasm na tsokar fuska da tsokoki na masticatory. Bugu da kari, ya kamata a lura da haɗarin buri na hanyoyin iska tare da bolus abinci, wanda zai haifar da haɓakar ciwon huhu. Har ila yau, ci gaban cutar yana tasiri ta hanyar amfani da abin sha mai sanyi da ice cream, wanka a cikin ruwan sanyi.
Amfanin physiotherapy don maganin ciwo bai kamata a yi la'akari da shi ba.
Schwartz-Jampel. Ayyukan da aka ba wa likitan physiotherapist:
Rage tsananin bayyanar miotic;
Horar da tsokoki na extensor na kafafu da makamai;
Tsayawa ko rage jinkirin samuwar kwangilolin kashi da tsoka.
Wanka daban-daban (gishiri, sabo, coniferous) na tsawon mintuna 15 kowace rana ko kowace rana yana da tasiri. Amfani shine wanka na gida tare da karuwa a hankali a yanayin zafin ruwa, ozocerite da aikace-aikacen paraffin, fallasa ga haskoki na infrared, tausa mai laushi da sauran hanyoyin.
Shawarwari game da wuraren shakatawa sune kamar haka: tafiya zuwa wuraren da yanayinsu ya kasance kusa da yanayin da aka saba da majiyyaci, ko ziyarci wuraren da ke da yanayi mai laushi.
Don rage tsananin alamun cutar, ana nuna magunguna masu zuwa:
Magungunan antiarrhythmic: Quinine, Diphenine, Quinidine, Quinora, Cardioquin.
Acetazolamide (Diacarb), ana sha da baki.
Anticonvulsants: phenytoin, Carbamazepine.
Botulinum toxin ana gudanar da shi kai tsaye.
Ana kiyaye abinci mai gina jiki ta hanyar shan bitamin E, selenium, taurine, coenzyme Q10.
Tare da haɓakar blepharospasm na biyu kuma a gaban ptosis na biyu, ana ba da shawarar yin aikin tiyata na ido. Nakasar kashi na ci gaba, faruwar kwangila - duk wannan yana haifar da gaskiyar cewa marasa lafiya za su shiga cikin ayyukan orthopedic da yawa. Saboda haɗarin haɓaka mummunan hyperthermia a cikin ƙuruciya, ana gudanar da kwayoyi ta hanyar kai tsaye, baki ko cikin hanci. Yin aiki ba tare da gazawa ba yana buƙatar ɓacin rai na farko tare da barbiturates ko benzodiazepines.
Tsarin gargajiya na cutar bisa ga phenotype 1A ba shi da tasiri mai mahimmanci akan tsawon rayuwar mai haƙuri. Haɗarin samun ɗa a cikin iyali tare da tarihin nauyi yana daidai da 25%. Marasa lafiya suna buƙatar tallafin tunani da zamantakewa. Bugu da ƙari, majiyyaci ya kamata ya jagoranci irin waɗannan ƙwararrun kamar: masanin kimiyyar halitta, likitan zuciya, likitan neurologist, likitan anesthesiologist, likitan kashi, likitan yara. Idan akwai matsalar magana, to ana nuna azuzuwan tare da likitan ilimin likitancin magana.