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BEMORIHOI IRSi

bemorii-irsiBEMORIHOI IRSi (Morbi hereditarii), bemorihoe, ki dar natijai illati unsurhoi genetikii hujayrahoi jinsi ba vujud meoyand. Omuzishi paydoish va jarayoni B. i. dar a. 20 ba tufayli peshrafti sohai genetika ogoz yoft. Baroi ba roh mondani tadbirhoi peshgiri va muolijai B. i. qonuniyat va mekhanizmi intiqoli alomathoi irsiro donistan lozim ast (nig. Irsiyat).
Okhiri a. 19 – avv. a. 20 malum gardid, ki intiqoli khususiyathoi irsi ba tashkilahoi makhsusi hujayra – khromosomaho marbut ast, zero onho homiloni akhbori genetiki mahsub meshavand. Tarkibi khimiyavii khromosoma az KDN (kislotai dezoksiribonukleat; nig. Kislotahoi nukleat) iborat meboshad. Tadqiqi sokht va khususiyathoi KDN baroi darki qonuniyathoi sabt va barqarorsozii akhbori genetiki imkon dod; binobar in KDN dar hujayra chun asosi moddii irsiyat barrasi megardad. Zimni omuzishi khromosomaho muqarrar gasht, ki onho ba inkishof va khususiyathoi hujayra tasiri khos merasonand.
Qitai khromosomaho (molekulahoi KDN)-ro, ki yagon alomat yo guruhi alomathoi organizmro muayyan mekunad, gen menomand. Majmui genhoi organizm genotip va majmui alomathoi organizm, ki dar tuli hayot zohir megardand, fenotip nom dorad. Mavqee, ki geni mazkur dar khromosoma ishgol mekunad, lokus (joy) nomida meshavad. Hujayrahoi boligi jinsi az hujayrahoi tan bo hamin farq mekunand, ki onho nisfi dastai khromosomaho – yaktoi az har kadom juft va yak khromosomai jinsi (H yo Y) dorand. Dar rafti bordori hujayrahoi jinsi omekhta va adadi khromosomaho dar hujayratukhmi bordor du marotiba ziyod meshavand. In guna mekhanizm baroi az volidayn ba nasl intiqol yoftani akhbori genetiki zaminai musoid faroham meorad.
B. i. dar natijai tagyiroti irsan ustuvori kodi genetiki, ki onhoro mutatsiyaho menomand, paydo meshavand (nig. Tagyirpaziri, Mutagenez). Mutatsiyaho metavonand ham az tasiri omilhoi muhiti zist (radiatsiyai ionzo, payvasthoi khimiyavii az jihati biologi faol) va ham ba tavri suni, zeri tasiri sharoiti dokhili dar hujayraho va organizmi tom rukh namoyand.
Jarayoni mubodilai moddaho dar hujayra zeri nazorati dujoniba qaror dorad. Az yak taraf, in tanzimi asabi va endokriniest, ki muvofiqati jarayoni mubodilaro ba sharoiti muhiti zisti khujayra tamin mekunad. Az tarafi digar, sistemai murakkabi nazorati genetikiest nisbat ba sintezi safedahoi fermenti (nig. Fermentho). Az nigohi genetikai tibbi va amrozi irsi mutatsiyai gen (sarfi nazar az on, ki dar kadom qitai molekulai safeda nuqson ba vujud meoyad.)-ro ikhtiloli sintezi ferment hamrohi mekunad. Varianthoi zerini ikhtiloli sintezi ferment oshkor karda shudaand: 1) inhisori purra (qat gardidan)-i sintezi ferment; 2) sust gashtani faoliyati ferment; 3) ikhtiloli sistemaho yo reaksiyahoi biokhimiyavii digare, ki faoliyati ferment ba onho vobasta ast.
Nabudan yo sust budani faoliyati fermetho aksar vaqt ba paydoishi bemorihoi irsii mubodilai moddaho (enzimopatiya) sabab meshavad. Bisyor nuqsonhoi irsii mubodilai moddaho bo bemorihoi jarayonashon gunogun (az sabuk to nihoyat vaznin) jur megardand. Voqean, baze az onho metavonand hatto biduni yagon alomat jarayon girand. Padidahoi avvalini klinikii bemorihoi irsii mubodilai moddaho beshtar dar davrai tufuliyat (1 – 2-solagi) ba mushohida merasand. Vale holathoi dar kudakoni kalon va hatto odamoni solkhurda paydo shudani onho niz joy dorand.
YAke az rohhoi muhimi tadqiqi B. i. usuli genealogi (tarikhi avlodu ajdod) meboshad. On ba tartib dodani nasabnomai bemoron asos yoftaast (nig. Avlodshinosi). Baroi omuzishi qonuniyathoi az nasl ba nasl guzashtani alomathoi gunoguni irsi tadqiqi dugonikho («usuli tavamon») ahamiyati kalon dorad. Tavamon metavonand az yak tukhmi bordor (tavamoni yaktukhma) yo az du hujayratukhmi dar yak vaqt bordorshudai gunogun (tavamoni dutukhma) inkishof yoband. Tavamoni yaktukhma genotipi mushobeh va alomathoi beruna (fenotip)-i ba hamdigar monand dorand; jins va guruhi khuni onho yakkhela buda, zohiran ba yakdigar khele monand meboshand. Tavamoni dutukhma genotiphoi gunogun doshta, az yakdigar bo jins va alomathoi zohiri farq mekunand.
B. i. ba bemorihoi khromosomi va bemorihoi geni (bemorihoi irsii mubodilai moddaho, ikhtiloli irsii immunitet, bemorihoi marbut ba ikhtiloli gadudhoi endokrini va g.) taqsim karda meshavand.
Bemorihoi khromosomi dar natijai tagyir yoftani sokht va tedodi khromosomaho ba vujud meoyand. In qabil illat dar bayni tifloni navzod qarib 1%-ro tashkil medihad. Anomaliyai dagali khromosomaho bo hayot oshtinopazir ast va aksar vaqt boisi isqoti gayriikhtiyor, bachapartoi va murdazoi megardad. Bemorihoi khromosomie niz malumand, ki dar natijai anomaliyai khromosomahoi jinsi va khromosomahoi gayrijinsi (autosomaho) ba vujud omadaand. Ba anomaliyai khromosomahoi jinsi sindromi SHereshevskiy – Terner mansub ast. On dar davrai navzodi bo ovezonu chindor shudani pusti gardan va khami orinj (chinhoi bolshakl) zohir meshavad. Kudak bo vujudi kalon shudan, az jihati sabzishi qad aqib memonad. Dar davrai balogati jinsi alomathoi infantilizmi jinsi (takhiri inkishofi alomathoi duyumini jinsi) va nishonahoi amenoreya (nabudani hayz) ba vujud meoyand.
Ba anomaliyai khromosomahoi gayrijinsi sindromi Daun taaluq dorad. Dar asnoi on namudi zohirii bemoron tagyir meyobad: shakli nodurusti kosakhonai sar, kajii chashmho, sufrai khurdi gush, nomutanosibii badan va dastu po, angushtoni kutohu kaj, sustii mushakho; serchinii pusti kafi dast va g. Dar bisyor bemoron illati dil, ikhtiloli kori gadudhoi tarashshuhi daruni, takhiri inkishofi ruhi ba vujud meoyad. Bemorii mazkur dar kudakone, ki modaronashon onhoro badi 40 – 50-solagi ba dunyo ovardaand, beshtar ba mushohida merasad.
Ba bemorihoi irsii mubodilai moddaho taqr. 30 kheli mariziho mansub buda, onho binobar ikhtiloli mubodilai aminokislotaho rukh menamoyand.
Ba in qabil bemoriho ikhtiloli irsii mubodilai ravgan niz dokhil meshavad. Ravgan qismi tarkibii hujayrahoi organizm ba shumor meravad. Miqdori ziyodi on dar magzi sar mavjud ast, az in ru ikhtiloli irsii mubodilai ravgan aksar vaqt bo nojurii sistemai asabhoi markazi yakjoya jarayon meyobad. YAke az bemorihoi vazinini marbut bo ikhtiloli irsii mubodilai ravgan kamaqlii modarzodii Teya – Saks meboshad. Ba on zafi bosira va noqisulaqlii tavam bo digar alomathoi nevrologi taalluq dorad. Daleli khususiyati nasabi doshtani bemorii mazkur dar barodaronu khoharon paydo shudani on ast (dar ayni zamon khudi volidayn solimand).
Ba B. i.-i marbut bo ikhtiloli mubodilai angishtob galaktozemiya mansub ast. Dar mavridi on jarayoni ba glyukoza tabdil yoftani galaktoza (qandi shir) vayron meshavad. Dar natija galaktoza dar hujayra jam shuda, ba jigar, silsilai asabhoi markazi va g. oseb merasonad. Zuhuroti klinikii galaktozemiya darunravi, qay (az ruzhoi avvali hayoti kudak), zardparvin (az sababi etiloli jigar), khira shudani zujojiya (katarakta), takhiri inkishofi aqlivu jismoni meboshad. Ba ikhtiloli irsii mubodilai angishtobho diabeti qand va bemorihoi digar dokhil meshavand.
YAk zumra B. i.-e mavjudand, ki dar mavridi onho mubodilai pigmenti talkha – bilirubin khalal meyobad. In holat beshtar hangomi bemorii gemolizii navzodon mushohida meshavad. Ba in bemori tez nobud gashtani eritrositho va ba khun guzashtani miqdori az meyori fiziologi ziyodi bilirubin, ki hujayrahoi asabro zahrolud megardonad, khos ast. Alomati zohirii bemori jisman va zehnan aqib mondani kudak meboshad. Tashkhisi barmahali bemori, andeshidani tadbirhoi peshgiri, khunguzaronii sarivaqti dar tavalludkhona, ki baroi az organizm barovardani bilirubini zahrnok ravona gardidaast, bo kam shudani favt va jilavgirii illati mayna musoidat mekunand. Mubodilai nodurusti bilirubin binobar illati jigar niz mushohida meshavad.
Dar zaminai peshrafti immunologiya va genetikai tibbi sohai navi tib – immunogenetika ba vujud omad. Omuzishi genetikai reaksiyahoi immunologi bahri oshkor namudani sababi paydoish va jarayoni tulonii bisyor bemoriho musoidat kard. Mas., nuqsoni irsii sintezi safedahoi makhsus, ki masuniyat (immunitet)-i organizmro hifz mekunad (immunoglobulinho), bo kostani istodagarii organizm nisbati siroyathoi mikrobi, inkishofi holati ufuni va bemorihoi muzmini uzvu sistemahoi gunogun zohir megardad. Inro metavon dar jarayoni bemorii Bruton (ba on ikhtiloli mahsuli hama juzhoi immunoglobulin khos ast) oshkor kard. Bemori faqat dar pisarbachaho mushohida meshavad. Odatan, kudakon solim ba dunyo meoyand, ammo dar 3 – 4-mohagi ba tasiri siroyat hassos megardand. Beshtar shush, gushi mobayni (iltihobi muzmini maddanok), medavu ruda illat meyobad. Dar bachagoni sinnashon kalon iltihobi muzmini shush niz mushohida meshavad.
Eritrositi inson gemoglabini gunogun dorad. Dar barobari gemoglobini solim, gemoglobinhoi illati niz mavjudand, ki onho ba inkishofi bemoriho sabab meshavand (yane gemoglobinhoi nuqsdor az nasl ba nasl meguzarand).
B. i. metavonand bo nuqsi leykositho (jismchahoi safedi khun) niz marbut boshand. Ayni hol maqomi mutatsiyai genho dar paydoishi bemorii leykoz (safedkhuni) malum gashtaast. Inro tahlili anamnezi oilahoe, ki dar onho bemoron mavjud budand, sobit menamoyad. Gayr az in, mavqei omilhoi irsiro dar paydoishi leykoz tedodi tavamoni ba in bemori giriftor, inchunin adadi ziyodi leykozi modarzod hangomi bemorihoi khromosomi, az jumla dar jarayoni bemorii Daun, sobit mesozand.
Ba B. i.-i khun hamchunin gemofiliya mansub ast, ki bo khunravi mushoyaat meyobad. Hunravi az sababi nuqsonhoi irsi doshtani safedahoi makhsus ba vujud meoyad (onho baroi lakhtabandii khun lozimand).
Binobar takmili usulhoi sanjishi biokhimyavi va ba roh mondani tahlili genetiki hangomi amrozi gurda, bemorihoe oshkor shudand, ki dar inkishofi onho omilhoi irsi maqomi asosi dorand. Tashkhisi klinikii onho dushvorihoi ziyod pesh meorad, zero az jihati jarayoni khud ba nefrit yo pielonefritho monand meboshand. Az in lihoz onhoro bemorihoi nefritmonandi gurda (nefropatiya) menomand. Dar in mavrid omuzishi amiqi anamnezi oilavi, tartib dodani nasabnoma va tahlili genetiki ahamiyati kalon dorad. Tadqiqoti laboratori, odatan, alomathoi khosi nefrit (obvaram yo fishori balandi khun)-ro tasdiq namekunad. Baroi nefropatiyai irsi muvofiqati tagyiroti gurda bo illathoi uzvhoi digari kudak (kari, nuqsi aql, tagyiroti ustukhonbandi va g. ) khos meboshad.
Ba in guruhi B. i. hamchunin baze bemorihoi rakhitmonand (mas., fosfat-diabet) va bemorihoe, ki bo ikhroji boshiddati aminokislotaho, fosfor va qand (tavassuti peshob), ikhtiloli mubodilai sistin, glitsin va nuqsi mekhanizmi ionhoi gidrogenofari gurda aloqamand meboshand, dokhil meshavand.
Hamin tavr, nomgui nachandon kaloni B. i. ba sershumori, gunogunii jarayon va peshguii onho dalolat mekunad. Baroi sarivaqt va durust oshkor kardani B. i. shabakai muassisoti makhsus – markazhoi mushovarai tibbiyu genetiki mavjudand. Vazifai onho az muayyan kardani gustarishi in yo on B. i., inchunin az peshgui namudani nasl (agar dar oila kudaki giriftori in yo on bemorii irsi oshkor shuda boshad) iborat ast.
Dastovardho dar kori tashkhisi barmahali B. i.-i mubodilai moddaho, vaqte ki ikhtilol chandon ziyod nabuda, bemori hanuz mujibi tagyiroti morfologi nagashtaast, ba daryofti rohhoi tabobat musoidat mekunand. Qabl az hama muolija bo parhez (az tarkibi khurok dur kardani moddahoi baroi bemor zararnok) dar nazar ast. Bo in maqsad hatto gizoi makhsus tayyor karda meshavad.
Bisyor B. i.-ro peshgiri kardan mumkin ast. Az in ru javonone, ki dar avlodashon yagon shakhsi giriftori B. i. hast, boyad pesh az oila barpo kardan, bo dukhturi mushovarai tibbiyu genetiki maslihat va masalai farzanddor shudan yo nashudanro hal namoyand.

M.YO. Holbekov.

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