Cov kab mob khaws cia yog ib pawg ntawm cov kab mob sib kis nrog cov kab mob metabolic. Lawv tshwm sim los ntawm kev hloov pauv hauv cov noob ua lub luag haujlwm ntawm qee cov enzymes. Cov kab mob zoo li no muaj tsawg heev. Kwv yees li ntawm 1 tus menyuam mos ntawm 7000-8000 tus menyuam mos yug los nrog cov kab mob sib txuam. Cov kab mob no hnyav heev thiab nyuaj kho. Hauv tsab xov xwm peb yuav xav txog kev faib cov kab mob thiab lawv cov tsos mob.
Txhua lub cell hauv tib neeg lub cev muaj lysosomes. Cov organelles tsim cov enzymes xav tau los rhuav tshem ntau yam khoom noj. Lysosomes ua lub luag haujlwm tseem ceeb hauv kev zom zaub mov hauv lub cev.
Raws li qhov tshwm sim ntawm cov noob hloov pauv hauv cov menyuam yug tshiab, kev ua haujlwm ntawm cov qauv ntawm tes tuaj yeem cuam tshuam. Vim li no, qhov tsis txaus enzyme tshwm sim hauv lub cev, thiab lysosomes tsis tuaj yeem zom qee yam ntawm cov as-ham. Qhov no yog heevnegatively cuam tshuam lub xeev ntawm tag nrho cov kab mob. Unsplit substances accumulates nyob rau hauv cov ntaub so ntswg thiab lub cev, uas ua rau mob loj heev kev puas tsuaj ntawm ntau yam lub cev functions.
Nyob rau hauv cov xwm txheej zoo li no, kws kho mob kuaj tus menyuam muaj kab mob lysosomal cia. Lawv tshwm sim nrog sib npaug zaus hauv cov tub thiab ntxhais. Cov no yog cov kab mob loj heev uas, yog tias tsis kho, ua rau muaj kev tsis taus thiab tuag ntxov. Cov kab mob zoo li no yuav tsum tau kho tas mus li.
Hereditary cia kab mob hu ua thesaurismoses. Lawv kis tau nyob rau hauv autosomal recessive yam. Qhov no txhais tau hais tias tus kab mob no tau txais txiaj ntsig yog tias ob leeg niam txiv yog tus nqa ntawm cov noob puas. Qhov yuav muaj tus menyuam muaj mob yog 25%.
Ntau yam ntawm thesaurismoses
Cia peb xav txog kev faib cov kab mob cia. Xws li pathologies yog subdivided rau hauv ob peb pawg nyob ntawm seb hom accumulating tshuaj. Cov kws kho mob paub qhov txawv ntawm hom kab mob metabolic hauv qab no:
- sphingolipidoses;
- Ylipidoses;
- Yglycogenoses;
- glycoproteinoses;
- Ymucopolysaccharidoses;
- Ymucolipidoses.
Sphingolipidoses
Cov kab mob khaws cia no yog qhov ua rau muaj kev cuam tshuam cov metabolism ntawm sphingolipids. Cov tshuaj no yog lub luag haujlwm rau kev sib kis ntawm cellular teeb liab. Lawv pom muaj feem ntau hauv cov hlab ntsha.
Yuav ua li cas thaum cov metabolism ntawm sphingolipids cuam tshuam? Cov tshuaj no pib nkag mus rau hauv daim siab, spleen, ntsws, lub taub hau thiabpob txha pob txha, uas ua rau mob hnyav ntawm lub cev ua haujlwm. Sphingolipidoses suav nrog cov kab mob hauv qab no:
- Kab mob Gaucher;
- Tay-Sachs tus kab mob;
- Sandhoff disease;
- metachromatic leukodystrophy;
- Ygangliosidosis GM1;
- Kab mob Fabry;
- Krabbe kab mob;
- Normann-Pick disease.
Cov tsos mob ntawm cov kab mob no nyob ntawm thaj chaw ntawm kev sib sau ntawm sphingolipids. Cov kab mob saum toj no tuaj yeem nrog cov tsos mob hauv qab no:
- daim siab thiab tus po;
- hematopoietic ntshawv siab;
- neurological ntshawv siab;
- kev puas hlwb (qee zaum).
Sphingolipidoses tshwm sim hauv kwv yees li 1 ntawm 10,000 tus menyuam yaus. Tus kab mob Gaucher yog qhov tshwm sim ntau tshaj. Cov menyuam yaus no xav tau kev kho mob hloov enzyme mus ib txhis. Tom qab qhov tshwm sim ntawm sphingolipidoses tshwm sim nyob rau hauv tus menyuam, qhov kev pom zoo ntau dua.
Lipidoses
pawg kab mob no suav nrog Wolman's disease thiab Batten's disease. Cov kab mob congenital no yog nrog los ntawm tsub zuj zuj ntawm cov rog rog nyob rau hauv cov ntaub so ntswg.
Cov roj (cholesterol) thiab triglycerides khaws cia hauv cov ntaub so ntswg hauv Wolman tus kab mob. Hauv cov ntshav, qib ntawm hepatic transaminases nce, uas ua rau fibrosis thiab cirrhosis ntawm daim siab thaum yau. Cov tsos mob dyspeptic thiab tsam plab tau sau tseg. Tam sim no, cov kev npaj enzymatic tau tsim kho kom txo tau tus mob ntawm tus menyuam.
Batten's disease los nrog cov tsos mob hnyav dua. Cov khoom ntawm cov roj oxidation, lipofuscin, accumulates nyob rau hauv neurons. Qhov no ua rau kev tuag ntawm cov hlab ntsha hlwb thiab mob hnyav ntawm lub hauv nruab nrab paj hlwb: convulsions, tsis muaj peev xwm taug kev thiab hais lus, tsis pom kev. Tam sim no, tsis muaj kev kho mob zoo rau qhov pathology no. Batten tus kab mob feem ntau ua rau tus menyuam tuag.
YGlycogenoses
Nyob rau hauv cov kab mob ntawm kev sib sau ntawm glycogen hauv tus neeg mob lub cev, tsis muaj enzyme glucosidase. Qhov no ua rau qhov tseeb tias cov tshuaj polysaccharide pib tso rau hauv cov ntaub so ntswg. Kev sib sau ntawm glycogen tau pom hauv cov leeg thiab cov neurons, uas ua rau muaj kev puas tsuaj loj ntawm tes.
Glycogenoses suav nrog tus kab mob Pompe. Qhov no pathology feem ntau tshwm sim nyob rau hauv cov me nyuam hnub nyoog 4-8 lub hlis. Nws yog nrog los ntawm cov tsos mob hauv qab no:
- Me nyuam mos cov leeg zoo li qub, tab sis tsis muaj zog thiab qaug zog.
- Tus me nyuam pom nws nyuaj kom nws taub hau.
- Me nyuam mos dov tsis tau thiab txav tau yooj yim vim cov leeg tsis muaj zog.
Sij hawm dhau mus, tus me nyuam tsim kev puas tsuaj rau cov leeg plawv. Yog tsis muaj kev kho mob, tus kab mob no ua rau tuag taus los ntawm kev ua pa thiab lub plawv tsis ua hauj lwm.
Qee zaum, cov tsos mob ntawm tus kab mob Pompe tshwm sim hauv cov menyuam yaus tom qab hnub nyoog (1-2 xyoos). Tus menyuam tau txo cov leeg nqaij hauv caj npab thiab txhais ceg. Yav tom ntej, cov txheej txheem pathological kis mus rau cov leeg ntawm lub diaphragm, uas ua rau ua pa tsis ua haujlwm thiab tuaj yeem ua rau tuag taus.
Txoj kev xwbKev kho mob ntawm tus kab mob no yog hloov kho nrog tshuaj "Myozyme". Cov tshuaj no pab txhawb ntxiv qhov tsis txaus glucosidase thiab txhim kho glycogen metabolism.
YGlycoproteinoses
Glycoproteinoses yog cov kab mob khaws cia hauv cov carbohydrates yooj yim tso rau hauv cov ntaub so ntswg. Cov tshuaj no cuam tshuam rau cov neurons, ua rau muaj kev puas tsuaj loj rau lub paj hlwb. Cov kab mob no suav nrog:
- Mannosidosis. Yog tias tus me nyuam tsis muaj cov enzyme mannosidase kiag li, qhov no ua rau muaj kev tuag hauv me nyuam mos. Qhov ua rau tuag yog mob hlwb loj heev. Yog tias qhov kev ua ntawm cov enzyme raug txo qis me ntsis, ces tus neeg mob muaj qhov tsis hnov lus thiab mob hlwb.
- Sialidosis. Cov neeg mob tsim muaj qhov tsis txaus ntawm enzyme neuraminidase. Tus kab mob no nrog rau cov leeg twitching, gait cuam tshuam, thiab ib tug ntse deterioration nyob rau hauv lub zeem muag.
- YFucosidosis. Tus kab mob no cuam tshuam nrog qhov tsis txaus ntawm enzyme hydralase. Cov neeg mob muaj qhov ncua sij hawm ntawm kev loj hlob ntawm psychomotor, trembling ntawm nqua, convulsions, deformities ntawm pob txha taub hau, thickening ntawm daim tawv nqaij.
Tsis muaj kev kho mob zoo. Tsuas yog kho cov tsos mob tuaj yeem ua tau, uas txo tus menyuam tus mob.
YMucopolysaccharidoses
Mucopolysaccharidoses (MPS) yog cov kab mob khaws cia uas tsis muaj kua qaub glycosaminoglycans tso rau hauv cov ntaub so ntswg sib txuas. Cov tshuaj no yog hu ua mucopolysaccharides. Lawv cuam tshuam rau lub xeev ntawm neurons, pob txha, sab hauvlub cev thiab cov ntaub so ntswg ntawm qhov muag.
Tam sim no, hom MPS hauv qab no yog qhov txawv:
- Gurler, Sheye thiab Gurler-Sheye syndrome;
- Hunter syndrome;
- Sanfilippo syndrome;
- Morquio syndrome;
- YMaroteau-Lami syndrome;
- Sly Syndrome;
- Di Ferrante syndrome;
- Natovich Syndrome.
Hauv daim ntawv me me, Scheye, Hunter thiab Morquio syndromes tshwm sim. Lub neej expectancy ntawm cov neeg mob tuaj yeem ncav cuag 35-40 xyoo.
Hom mob hnyav tshaj plaws ntawm mucopolysaccharidosis yog Hurler's syndrome. Cov me nyuam mob feem ntau nyob tsis tshaj 10 xyoo.
Daim duab kho mob ntawm mucopolysaccharidoses yog tus cwj pwm los ntawm cov tsos mob hauv qab no:
- dwarf;
- ntxhib, grotesque nta;
- skeletal deformities;
- kev puas tsuaj rau lub plawv thiab cov hlab ntsha;
- tsis pom kev thiab hnov lus;
- daim siab thiab tus po;
- kev txawj ntse tsis zoo (nrog qee hom MPS).
Tam sim no, kev kho enzyme hloov pauv tau tsim rau tsuas yog plaub hom MPS - Hurler, Scheye, Hunter thiab Maroto-Lami syndromes. Rau lwm hom mucopolysaccharidoses, kev kho mob yog qhia rau cov neeg mob.
YMucolipidoses
Mucolipidoses yog cov kab mob khaws cia uas tsis muaj enzyme phosphotransferase tsim nyob rau hauv lub cev. Xws li pathologies yog nrog los ntawm kev tso tawm ntawm mucopolysaccharides, oligosaccharides thiab lipids hauv cov ntaub so ntswg. Hauv cov ntshav ntawm cov neeg mob, pom muaj cov enzymes tsis zoo ntawm lysosomes.
Bpawg pathologies no suav nrog kab mob I-cell. Nws tshwm sim feem ntau ua ntej hnub nyoog 1 xyoos. Tus menyuam muaj cov tsos mob hauv qab no:
- ntsej muag ntxhib;
- daim tawv nqaij tawv;
- skeletal deformities;
- congenital dislocations ntawm lub duav;
- pob txha thiab siab;
- mob khaub thuas;
- delay in psychomotor development.
Tam sim no tsis muaj tshuaj kho tus kab mob no. Tib txoj hauv kev los tiv thaiv tus menyuam muaj mob yog los ntawm kev kuaj mob ua ntej yug menyuam.
Zoo kawg
Cov kab mob khaws cia hauv cov menyuam feem ntau tsis tshwm sim tam sim tom qab yug me nyuam. Cov kab mob pathological tuaj yeem tshwm sim thaum muaj hnub nyoog ob peb lub hlis, thiab qee zaum tsuas yog 1-3 xyoos. Yav dhau los, cov kab mob zoo li no tau suav tias yog kho tsis tau thiab feem ntau xaus rau kev tuag ntawm tus menyuam.
Kev hloov kho rau qee yam kab mob metabolic tau tsim. Nws muaj nyob rau hauv lub neej kom tsawg ntawm cov enzymes uas ploj lawm. Xws li kev kho mob yog kim heev. Nws tsis tuaj yeem cawm tus menyuam los ntawm kev hloov pauv noob. Txawm li cas los xij, kev kho enzymatic tuaj yeem nres qhov kev loj hlob ntawm tus kab mob thiab ua kom lub neej ntawm tus neeg mob ntev.
