Menkes syndrome: kev piav qhia thiab kuaj

Menkes syndrome, uas tseem hu ua tus kab mob curly plaub hau - ib tug tsawg thiab loj heev caj kab mob. Nws muaj feem xyuam rau cov hluas tub hluas thiab, hmoov tsis, tsis tau kho.

Cov ua ntawm tus kab mob

Menkes syndrome yog lub txiaj ntsim ntawm kev hauj lwm ATR7A noob. Raws li ib tug tshwm sim ntawm lub anomaly lub cev tsis nqus tooj liab, uas yog tso nyob rau hauv lub ob lub raum, thiab tag nrho lwm yam lub cev muaj mob loj heev dej kev nyuaj siab, niaj sai puas tsuaj. Ua ntej ntawm tag nrho cov, raug kev txom nyem los ntawm lub plawv, lub hlwb, cov pob txha, hlab ntsha, thiab cov plaub hau. Tus kab mob yog pub thiab yog tsis tshua muaj heev. Qhov uas yuav muaj yog hais txog 1 nyob rau hauv 50-100 million thiab yog faib mas nyob rau hauv cov txiv neej. Nyob rau hauv poj niam me nyuam syndrome suab tsis tshwm sim.

Tus thawj cov tsos mob ntawm Menkes syndrome

Ib tug me nyuam yug los nrog tus kab mob no, zoo nkaus li thiab pom tau tias kiag li qub nyob rau hauv thawj lub lim piam ntawm lub neej. Nws tsuas yog peb lub hlis ntawm cov tsos mob tshwm sim, qhia tias tus me nyuam muaj Menkes syndrome:

• Curly plaub hau rau ntawm qhov chaw tau poob mus ib me ntsis me nyuam mos. Lawv yog cov tsis tshua muaj heev thiab kaj. Nyob rau closer soj ntsuam nws yog tshwm tias cov plaub hau yog heev yooj yim thiab intertwined. Lawv saib tsis meej pem. Intertwined li cov plaub mos mos thiab pob muag.
• Cov tawv nqaij yog ib tug unnatural pallor.
• Tus me nyuam lub ntsej muag heev plump.
• Choj ntawm lub qhov ntswg yog tiaj tus.
• Nws txo qis kub.
• Pub rau tus me nyuam yuav problematic. Kev qab los yog yog zoo nonexistent. Nyob rau hauv tas li ntawd, muaj cov variations nyob rau hauv plob tsis so tswj tsis tau.
• Kid passive, tsaug tsaug zog thiab sluggish, nws lub ntsej muag qhia tau hais tias yuav luag tsis muaj siab ntsws xav. Muaj tag nrho cov cim ntawm apathy.
• Tus me nyuam feem ntau txom tu-sauv.
• Child ho lagging qab lawv cov phooj ywg thiab tsis muaj lawm ua txawm tias uas twb muaj kev tswj kom kawm tau ntawv.

mob ntawm lub syndrome

Nws yuav tsum tau muab sau tseg hais tias muaj ntau muaj tsawg tus kab mob yog ib qhov nyuaj rau kev tshawb nrhiav. Ib tug yog vim li cas rau qhov no - cov neeg pluag khiav ntawm cov me nyuam tus kws kho mob. Nyob rau hauv cov ntaub ntawv ntawm Menkes syndrome cov menyuam yaus yuav ceeb toom ib qho txawv hom ntawm cov me nyuam cov plaub hau. Qhia cov tsos mob yog tu-sauv, uas tseg tshwm sim nyob rau hauv tus me nyuam.

Muaj ntau ntawm cov saum toj no cov tsos mob tshwm sim nyob rau hauv lwm yam, thiab tsis txaus ntshai kab mob. Yog li ntawd, mus nrhiav tau lawv nyob rau hauv koj tus me nyuam txoj kev ntshai yog tsis tsim nyog. Tab sis nws yog tsim nyog los xyuas nws. Lub ntsiab yam ntawm diagnostics Menkes syndrome yog tso ntshav kuaj rau theem ntawm lub xub ntiag nyob rau hauv nws ntawm tooj liab thiab X-rays ntawm cov pob txha, uas yuav qhia tau lawv cov yam ntxwv hloov.

tiv thaiv kab mob

Tu siab, lub syndrome kev tiv thaiv txoj kev Menkes tshuaj twb tsis tau yees ua. Thaum yuav raug - txiv neej cov me nyuam uas twb muaj cov txheeb ze nrog rau cov kab mob. Txiav txim seb tus kab mob nyob rau ntawm ib thaum ntxov rau theem ntawm txoj kev loj hlob embryo, thiab qhov ntau nws yog yuav luag tsis yooj yim sua los mus tiv thaiv. Ntawm cov hoob kawm, ib co poj niam hais rau lawv tus kheej cov nqe lus nug ntawm seb nws yog tau los npaj cev xeeb tub nrog Menkes syndrome nyob rau hauv lub tsev neeg ntawm nws tus txiv? Lo lus teb rau qhov no yuav tsuas muab zoo geneticist, uas yuav tsom xam cov pros thiab cons, yuav txhom tau, kos ib tug "kev tshuaj ntsuam genetic tsob ntoo" thiab xwb ces ncha moo lub degree ntawm kev pheej hmoo. Nws yog ib advisable mus coj ib tug txiav txim nyob rau hauv qhov kev npaj cov xeeb ntxwv tsuas yog tom qab kev sib tham nrog cov kws txawj.

Kev kho mob curly plaub hau kab mob

Tu siab, Menkes syndrome yog ib tug incurable kab mob. Huab cua ntawm nws nyuab heev. Tus kab mob loj zuj zus sai heev, yuav ua tau rau irreversible hloov nyob rau hauv lub cev. Nyob rau hauv tas li ntawd mus hlwb ruamqauj, uas yog yuav luag ib txwm nrog los ntawm ib tug syndrome, cheeb qhov uas cov kev loj hlob ntawm lub paj hlwb, impaired lub plawv muaj nuj nqi, cov pob txha qauv kev hloov.

Lub neej nrog Menkes syndrome yog luv luv. Feem ntau cov me nyuam tuag tom qab ob rau peb lub xyoos tom qab yug tus me nyuam. Feem ntau nws tshwm sim mam li nco dheev - nyob rau tom qab ntawm lub tuam stability - ntawm mob ntsws, kab mob los yog kev sib tawg ntawm cov hlab ntsha.

Tab sis yog kev kho mob raws li xws li tshuaj tsis paub, muaj txoj kev pab txhawb rau tus neeg mob tus mob. Qhov no yog ib qho dag mov ntawm tooj liab rau hauv lub cev, uas yog xeem intravenously. Qhov no txoj kev kho yog dog dig hinders txoj kev loj hlob ntawm tus kab mob thiab ib nrab eliminates cov tsos mob. Tab sis, tsuas raug rau cov raws sij hawm pib ntawm nws - namely, los ntawm tus thawj hnub los yog nyob rau feem ntau lub lim piam ntawm lub neej (kom txog rau thaum nws yog irreversible hloov nyob rau hauv lub hlwb). Uas, alas, yog yuav luag tsis yooj yim sua - nyob rau hauv qhov tseeb symptomatic daim duab zoo nkaus li xwb lub hlis mus rau peb. Nyob rau hauv lwm yam mob, cov kws kho mob yuav muab tsuas txhawb txoj kev kho.

Heev tsis tshua, tab sis nws tshwm sim hais tias Menkes syndrome tshwm sim nyob rau hauv ib tug me me daim ntawv. Qhov no zoo ntawm tus kab mob no yog hu ua lub occipital horn syndrome thiab yog tsiag ntawv los ntawm kev puas tsuaj ntawm connective cov ntaub so ntswg. Cov neeg mob nrog no mob tsis lagging qab nyob rau hauv kev puas hlwb txoj kev loj hlob, tab sis qhov kawg tshwm sim yog tseem lamentable. Lub tsuas kab mob pib tsim ntau tom qab: txog kaum xyoo.