Larsen Syndrome: Sanadin, Alamun, Jiyya

Our kayyade code shi ne don haka hadaddun cewa kusan duk wani tsanani lalacewar zai iya sa sarkar dauki da kuma shafar mutum ne ba a da mafi kyau. Masana kimiyya suna kullum gano sabuwar cuta, amma, a nasu kalmomin, da genome zauna unexplored casa'in cikin dari.

description

Larsen ciwo (ICD-10 - M89 code) - shi ne mai rare kwayoyin cutar da cewa yana da fadi da kewayon phenotypic manifestations. A mafi halayyar siffofin suna dauke su dislocations da subluxations na manyan gidajen abinci, gaban malformations na gyara man fuska, ƙashi na daga cikin kwanyar da kuma reshe aiki matsaloli. A sakandare bayyananen hada scoliosis, kwancen kafa, short jiki, da kuma numfashi matsaloli.

Larsen ciwo ne ya sa ta nufi maye gurbi da za su iya faruwa spontaneously da za a gaji a wani autosomal rinjaye fashion. Tare da canje-canje a cikin gene FLNB daura dukan rukuni na cututtuka da bayyana disturbances a cikin kwarangwal tsarin. Specific cututtuka za su iya bambanta, har ma a tsakanin dangi.

dalilai

Abin da dole ne ya faru a cikin kunno jiki da cewa ya samo asali Larsen ciwo? A Sanadin wannan cuta har yanzu boye a faɗuwar rana na kimiyya. An sani cewa shi ne halayyar autosomal rinjaye gādo. Wannan daya ne kawai kwafin na canza gene zai zama isa ya wuce da Pathology wa 'ya'yansu, da kuma watakila ma jikoki. A gene iya samu daga iyaye (daga duka ko daga daya) ko zama sakamakon maras wata-wata maye gurbi. A hadarin gadon da cutar - 50/50, ba tare da la'akari da jima'i da yaro da kuma yawan haihuwa.

A modified gene aka located a kan gajeren hannu na uku chromosome. Idan so, masu bincike za su iya gano inda kwayoyin bayanai ne hõre canza. Yadda aka saba, wannan gene encodes mai gina jiki da aka sani a kimiyya da'irori kamar yadda filamin B. Yana taka muhimmiyar rawa a ci gaban da cytoskeleton. Maye gurbi kai ga gaskiya cewa furotin daina yi ta aiki, da kuma daga wannan, da Kwayoyin na jiki ne da abin ya shafa.

Mutane tare da wannan ciwo mosaicism mai yiwuwa ne. Wancan ne, mai tsanani da kuma yawan bayyanar cututtuka da cutar ne kai tsaye dogara a kan yawan Kwayoyin aka buga. Wasu mutane na iya ba ko da zargin cewa suna da wani aibi a cikin wannan gene.

epidemiology

Larsen ciwo tasowa a wannan kudi a maza da mata. A cewar m kimomi, cutar na faruwa a daya daga dubu dari jariri. Shi ne, sa'a, sosai rare. An yi} iyasin suna dauke unreliable saboda akwai wasu wahala a gano wannan ciwo.

Domin da farko lokacin da cuta a cikin likita adabi da aka bayyana a cikin tsakiyar karni na ashirin. Lauren Larsen da kuma abokan aiki samu da kuma rubuce shida lokuta na ciwo a yara.

cututtuka

Larsen ciwo, kamar yadda aka ambata a sama, za a iya bayyana ta hanyoyi da yawa, ko da tsakanin kusantar dangi. A mafi halayyar bayyanar cututtuka da cutar suna dauke canza fuska ƙasũsuwa. Wadannan sun hada da: a m low gada daga cikin hanci da fadi da goshi, lebur fuska, gaban kogon babba lebe ko palate. Bugu da kari, yara ne dislocations manyan gidajen abinci (hip, gwiwa, gwiwar hannu) da kafada subluxation.

Yatsunsu mutane takaice, m, tare da raunana gidajen abinci zama sako-sako da. Da wuyan hannu zai iya zama ƙarin ƙasũsuwa da cewa ci da shekaru da kuma warware biomechanics na motsi. Ga wasu mutane, akwai irin wannan rare sabon abu kamar yadda tracheomalacia (ko softening na guringuntsi na trachea).

bincikowa da

Ganewar asali "Larsen ciwo" An yi kawai bayan cikakken jarrabawa na haƙuri, hankali jarrabawa daga likita tarihi da kuma gaban da halayyar X-ray bayyanar cututtuka. Bugu da kari, wani cikakken radiographic jarrabawa iya bayyana munanan kuma Associated kwarangwal ci gaba, wanda su ne a kaikaice related to cutar.

Duban ganewar asali a utero iya bayyanãwa Larsen ciwo. Photos of kashi samuwar su horar da kyau duban dan tayi gwani na iya zama wani masomin don bincika kayyade munanan da tayin. Tun da farko duba ba za ka iya gaya wace irin cuta ya kai ga Pathology na gyara man fuska kwanyar da ƙashi na daga cikin extremities, expectant uwa bada shawarar yi wani amniocentesis da kuma gudanar da kwayoyin jarrabawa don neman maye gurbi a cikin na uku chromosome.

Idan cutar da ake tabbatar, amma biyu yanke shawarar kula da ciki, expectant uwa bada shawarar a yi caesarean sashe hanya, don haka kamar yadda ba su lalata da yaron ya ƙasũsuwa a lokacin da nassi ta hanyar da kafafuwa mata da farji bayarwa.

magani

Warkewa matakan da aka ba da nufin kawar da cutar, da kuma rage asibiti ãyõyi. Wannan hannu pediatricians, orthopedists, kwararru a maxillofacial tiyata da kuma itatuwa aure. Bayan kimantawa da na farko jihar na yaro da kuma tantance duk da kasada, da suka iya fara gyara data kasance take hakki.

A mafi intrusive zaɓi, wanda aka bi da Larsen ciwo - tausa. Wajibi ne a karfafa tsokoki da jijiyoyin dake rike da gidajen abinci, da kuma inganta kula da baya da kuma daidaita kashin baya. Amma kafin a ci gaba to warkewa hanyoyin bukatar wani yawan ayyukan. Suna da ake bukata domin gyara babban nakasawa ko kwarangwal musakai, vertebral karfafawa. Lokacin da tracheomalacia bukatar intubation sa'an nan da kafa da numfashi tube (m), wanda zai kula da patency daga cikin manya airway.

Jiyya da wannan cuta - mai tsawo aiwatar da cewa za a iya daukar shekaru. Tare da maturation na baby qara load a kan kashi, kuma yana iya sake bukatar jiki fi, physiotherapy, kuma watakila ma tiyata.