Ke'ng e etsang hore maloetse a liphatsa tsa lefutso

mafu a liphatsa tsa lefutso e kenyeletsa sehlopha se seholo sa mafu a tse hlaha liphetoho ka sebopeho phatsa ea lefutso. A re ke re fumana hore na li bakoa ke lintho tsa pathologies tsena.

Gene ea mafu a batho ba hangata ile a etsa hore ke liphetoho liphatseng tsa lefutso tse liphatsa tsa lefutso mehaho, e phethe mosebetsi bona ka tswakana tsa polypeptides, ka mantsoe a mang - ho ke liprotheine. phetoho liphatseng tsa lefutso phatsa ea lefutso efe kapa efe akarelletsa liphetoho ka sebopeho kapa palo ea protheine.

mafu a kang ho qala le le phello e ka sehloohong ea allele sehole. Ha e mong a leka ho dira ditshwantsho bontšang phatsa ea lefutso liphetoho liphatseng tsa lefutso motho, ho tla ba qalong ba le allele sehole, e phallang ka fetotsoeng sehlahisoa sa mathomo, sephetho le ka seleng e ntse e feta ketane ea dithulaganyo skeletal, sephetho le ka isang ho liphetoho ka makala le lisele tse, 'me joale e ntan'o ba bohle ba phelang.

Ho hlahloba lefu le liphatsa tsa lefutso boemong ba limolek'hule, variants tsena ka ho tsejoa:

- tlhahiso ea e chelete fetang sehlahisoa phatsa ea lefutso,

- the tswakana tsa protheine e sa tloaelehang

- lebaka la ho hloka ea tlhahiso,

- hammoho le ho hlahisa fokotswa tjhelete ya sehlahiswa sa mathomo.

lefu liphatsa tsa lefutso ha fela ka phahameng ka ho ea limolek'hule. pathogenesis bona e tsoela pele ho ntshetsa pele ka phahameng ka ho lisele. Tabeng ena re lokela ho hlokomela hore ntlha ea kopo ea phatsa ea lefutso fetotsoeng ka mafu a tse fapa-fapaneng ka ba ka bobeli mele ka kakaretso, 'me ka thoko dibopeho lisele tse kang lera, peroxisomes, lysosomes, mitochondria.

Ntho ea bohlokoa e tsela e sa tloaelehang le liphatsa tsa lefutso e le hore liponahatso tsa bona tsa tleleniki, hammoho le tekanyo le ho tiea tsa ntshetsopeleng ikemiselitse ka boemo ba genotype ea phelang, e leng maemo a tikoloho, lilemo tsa mamello, le tse ling.

A tsobotsi bath ya heterogeneity liphatsa tsa lefutso e pathologies. Sena se fana ka maikutlo a hore polelo e reng phenotypic lefu lena ka 'na ba bakoa ke liphetoho liphatseng tsa lefutso tse fapaneng tse etsahalang ka hare ho phatsa ea lefutso e le' ngoe kapa ka liphatsa tsa lefutso e fapaneng. Sena se ile sa pele ha thehoa ka 1934 ke mofuputsi tummeng tšimong ea liphatsa tsa lefutso S.N.Davidenkovym.

Ha e le diforomo monogenic ea tsela e sa tloaelehang le liphatsa tsa lefutso, ho ea ka melao ea ea Mendel, ba se futsitseng. Ka lehlakoreng le leng, liforomo monogenic ka aroloa ke mofuta oa lefa la, e leng autosomal recessive, autosomal ka sehloohong, 'me hammoho le Y- kapa X-chromosomes.

lefu All liphatsa tsa lefutso li ka classified ke palo ea litšobotsi, 'me sehlopha se seholo ka ho fetisisa tabeng ena e tla se futsitseng mafu tshilong ya dijo. Hoo e ka bang kaofela ha bona ba ho matleng a le autosomal tsela recessive. Sesosa sa maemo ana pathological ke lebaka la ho hloka e potlakisang tsebetso ea lik'hemik'hale ho khetheha eo ke nang le boikarabelo bakeng sa tswakana ea-amino acid. Tsena li akarelletsa mafu a kang phenylketonuria, leihlo-cutaneous albinism le homogentisuria.

Sehlopha se hlahlamang kholo ka ho fetisisa mafu a liphatsa tsa lefutso e amanang le lefu la tshilong ya dijo. Glycogen lefu, galactosemia - ke mehlala bao e leng sehlopha sena.

Lateloa ke mafu a tse amana ka ho toba metabolism lipid - e leng Gaucher lefu, lefu Niemann-nka le tse ling.

Liphatseng tsa lefutso lefu ho batho, ntle ho ba seng ba ntse ho boletsoe, ba classified

- mafu a lefa la pyrimidine le purine metabolism,

- pathologies amanang le mafu a connective dinama tse nyenyane tse,

- futsitseng mafu a ea e potoloha lihaha-'mele,

- mafu a kamano e tobileng ho mafu a metabolism ka erythrocytes,

- lefa bolwetse tšepe phapanyetsano,

- le syndromes tse bakang dithulaganyo malabsorption tsamaisong ea tshilong ya dijo.

, Ho phaella ho ka holimo re eketsa hore ho thehoa ha mofuta lefa la lefu lena le e thehilwe hodima mokhoa tlelenike le meloko.