I-Larsen's Syndrome: Izizathu, iziganeko, unyango

I-code yethu yofuzo iyinkimbinkimbi kangangokuthi phantse naluphi na ukuphazamiseka okukhulu kunokubangela ukuphendulwa kwamakhankethi kwaye kuyichaphazele umntu ongekho kwicala elifanelekileyo. Iingcali zenzululwazi zihlala zifumana izifo ezitsha, kodwa, ngamazwi abo, iipesenti ezingamashumi asithoba ze-gene ihlala ingachangekanga.

Inkcazelo

I-Larsen's syndrome (ikhowudi ye-ICD ye-10 ye-M89) iyisifo esingaqhelekanga se-genetic esineendidi ezahlukeneyo zeembonakaliso ze-phenotypic. Izibonakaliso ezibalaseleyo zichithwa kunye nokuhluthwa kwamalungu amaninzi, ubukho beziphene ekuphuhlisweni kwamathambo ebuso be-face kunye neengxaki ngemisebenzi yamacandelo. Ukubonakaliswa kwesekondari kufaka i-scoliosis, i-clubfoot, ukukhula okuphantsi kunye nobunzima bokuphefumla.

I-Larsen's syndrome kubangelwa ukuguqulwa kwamanqaku anokuthi ayenze kokubili ngokukhawuleza kwaye azuze njengefa elikhulu kwi-autosomal. Ngeenguqu kwi-GNB geni, iqela elipheleleyo lezifo, ezibonakaliswe ziziintlupheko kwinkqubo yamathambo, lidibene. Ukubonakaliswa okukodwa kunokwahlukana nakwezinye izalamane.

Izizathu

Yintoni eyenzeka ukuba yenzeke kwizilwanyana ezikhulayo ukuze i-Larsen isifo? Izizathu zezi sifo zifihliwe kwi-half-light-light. Kuyaziwa nje ukuba kuye, i-autosomal ifa eliphambili liyimpawu. Okokuphela koko, ikopi enye yegeni eguqulelweyo iya kukwanela ekudluleleni kwi-pathology kubantwana babo, mhlawumbi kunye nabazukulwana babo. I-gene ingafumaneka kubazali (ukususela kokubili okanye ukusuka kwelinye) okanye kuba ngumphumo wokuguqulwa kwamanye amazwe. Umngcipheko wokuzuza esi sifo ngu-50/50, kungakhathaliseki ukuba isondo somntwana kunye nenani lokukhulelwa.

Ijini elitshintshileyo lisesandleni esifutshane se-chromosome yesithathu. Ukuba unqwenela, abaphandi banokubaluleka apho ulwazi oluzuze ilifa lenze utshintsho. Ngokuqhelekileyo, lo mfuzo uhambela iprotheyini eyaziwayo kwizenzululwazi njenge-phylamine B. Idlala indima ebalulekileyo ekuphuhliseni i-cytoskeleton. Utshintsho lukhokelela ekubeni iprotheni iphelile ukwenza imisebenzi eyabelwe kuyo, kwaye iiseli zomzimba zihlupheke kulo.

Abantu abaneli syndrome banokuthi babe ne-mosaicism. Oko kukuthi, ubunzima kunye nenani leembonakalo zesifo ngokuxhomekeke kwinqanaba elithintekayo. Abanye abantu abanakho ukukrokra ukuba banesiphako kule geni.

Epidemiology

I-Larsen's syndrome ene-frequency efanayo iyavela kubesilisa nabasetyhini. Ngoqikelelo olunzima kakhulu, esi sifo senziwa kwiintsana ezilikhulu. Le nto, ngelanga Iingqinisiso zibhekwa njengokungathembeki, kuba kukho ubunzima abathile ekuboneni le syndrome.

Ngesihlandlo sokuqala kwincwadi yezokwelapha, lesi sifo sachazwa phakathi kwekhulu lemashumi mabini. ULauren Larsen kunye nababhali be-co-found bafumana kwaye babhala iingxaki ezintandathu ze-syndrome kubantwana.

Iimpawu

I-Larsen's syndrome, njengoko kuchazwe ngasentla, iyakwazi ukuzibonakalisa ngeendlela ezahlukeneyo, nokuba phakathi kwezihlobo eziseduze. Izibonakaliso ezibalaseleyo zezifo zigugu kumathambo ebuso. Ezi zibandakanya: impumlo ephantsi ebanzi kunye nobubanzi obubanzi, ubuso obusisigxina, ubukho bomlomo ophezulu ongenakunyaka okanye ubunzima obunzima. Ukongezelela, abantwana banokudityaniswa kwamalungu amaninzi (i-femoral, idolo, i-elbow) kunye ne-subluxation yamagxa.

Iminwe yabantu abanjalo ifutshane, ebanzi, kunye namajoyina athathaka. Kwizibilini, kunokubakho amanye amathambo athe, ngokudala, adibanise kwaye aphazamise i-biomechanics yokuhamba. Abanye abantu banezinto ezinqabileyo ezinjenge-tracheomalacia (okanye ukuthambisa i-cartilage ye-trachea).

Diagnostics

Ukuxilongwa kwe "Larsen's syndrome" kwenziwa kuphela emva kokuhlolisiswa ngokupheleleyo kwesigulane, ukuhlolwa ngokucacileyo kwimbali yakhe yezonyango kunye nobukho beempawu ze-radiographic. Ukongezelela, uvavanyo olupheleleyo lwe-radiographic lungabonisa kwaye luhambelane nemiphumo ephuhlisayo ekuphuhlisweni kwamathambo, anxulumene ngqo nesifo.

Ukuxilongwa kwe-ultrasound ngexesha lokubeleka kunokubonakalisa i-Larsen's syndrome. Ifoto yezakhiwo zeethambo zengcali eqeqeshelwa kakuhle ye-ultrasound ingaba yindawo yokuqala yokufunyaniswa kwezinto ezingafaniyo ze-fetus. Ukususela ekuqalekeni akunakwenzeka ukutsho ukuba sisiphi isifo esabangela ukukhubazeka kwesifo se-skull kunye namathambo esilungu, umama ozayo uyacetyiswa ukuba enze i-amniocentesis kwaye aqhube iimviwo zezofuzo ukuze athole ukutshintshwa kwe-chromosome yesithathu.

Ukuba eso sifo siqinisekisiwe, kodwa isibini sinqume ukuqhubeka nokukhulelwa kwabo, umama olindelekileyo ucebise ukuba abe necandelo le-laarean ukwenzela ukuba angalonakalisi amathambo omntwana njengoko edlula kwi-pelvis yowesifazane ngexesha lokubeletha ngokwemvelo.

Unyango

Amanyathelo okwelapha awajoliswanga ekupheliseni eso sifo, kodwa ekunciphiseni ukubonakaliswa kwekliniki. Oku kubandakanyeka oogqirha bezilwanyana, izazinzwa, iingcali kwi-optical surgery and genetics. Emva kokuvavanya imeko yokuqala yomntwana nokuvavanya yonke ingozi, baqala ukulungisa ukuphulwa okukhoyo.

Ikhetho elincinci, elijongana ne-Larsen's syndrome, lihlalisa. Kubalulekile ukuqinisa imisipha kunye nemigqaliselo ebambe amajoyina, kunye nokuphucula ukugcinwa kwemva kunye nokulungisa umgudu. Kodwa ngaphambi kokuqhubela phambili kwiindlela zokwelapha, kuza kufuneka ukuba kwenziwe imisebenzi emininzi. Ziyimfuneko ekulungiseni ukuguqulwa okukhulu kwegazi okanye ukukhubazeka, ukuzinzisa i-vertebrae. Xa i-trachelimlimation idinga intubation, kwaye ke ukufakela ityhubhu yokuphefumula (ngokuqhubekayo), okuya kugcina ubuchule bendlela yokuphefumula.

Ukunyangwa kwesi sifo kuyinkqubo ende, enokuhlala iminyaka. Njengoko umntwana ekhula, umthwalo ngamathambo ukwandisa, kwaye unokuphinda afune ukuvuselelwa ngokomzimba, umzimba wokuzivocavoca umzimba, mhlawumbi kunye nokungenelela okutyathwayo.