Matšoao a mangata a liphatsa tsa lefutso - mohopolo ona ke mehopolo, hobane lefu lena le ka 'na la se ke la etsahala sebakeng leha e le sefe,' me libakeng tse ling tsa lefats'e ho ama karolo e kholo ea baahi.
Ho lemoha mafu a liphatsa tsa lefutso
Matšoao a bolaoli ha a tsohe ho tloha letsatsing la pele la bophelo, a ka iponahatsa feela ka mor'a lilemo tse seng kae. Ka lebaka leo, ke habohlokoa ho etsa tlhahlobo ea nako ea mafu a liphatsa tsa lefutso, e leng ho phethahala ha eona nakong ea bokhachane le nakong ea tsoelo-pele ea bokhachane. Ho na le mekhoa e mengata ea ho hlahloba:
- Likokoana-hloko. E lumella ho fumana boteng ba sehlopha sa maloetse a amanang le mathata a bakoang ke lefu la ts'oaetso. Mokhoa ona o kenyelletsa ho hlahlojoa ha mali a phekolo bakeng sa maloetse a liphatsa tsa lefutso, hammoho le thuto ea boleng ba 'mele le metsi a mangata.
- Cytogenetic. E thusa ho tseba maloetse a hlahang ka lebaka la mathata a ho hlophisa li-chromosome tsa sele.
- Molecular-cytogenetic. Ke mokhoa o phethahetseng haholo ha o bapisoa le o fetileng mme o lumella ho fumana hore na liphetoho tse fokolang ka ho fetisisa lichabeng tsa li-chromosome ke life.
- Senyesemane . Matšoao a matšoao a mafu a liphatsa tsa lefutso a atisa ho lumellana le matšoao a mafu a mang, a se nang mafu. Se boleloang ke mokhoa ona oa ho hlahloba ke ho khetholla likarolo tse ngata tsa matšoao ka ho khetheha tse bontšang lefu la lefu. Sena se etsoa ka thuso ea mananeo a khethehileng a k'homphieutha le ho hlahlojoa ka hloko ke setsebi sa liphatsa tsa lefutso.
- Li-molecular-genetic. Mokhoa oa morao-rao le o tšepahalang. E u lumella hore u hlahlobe DNA le RNA ea batho, u lemohe le liphetoho tse nyenyane, ho kenyeletsa le ho latela li-nucleotide. E sebelisetsoa ho hlahloba mafu a monogenic le liphetoho tse fetohileng.
- Tlhahlobo ea ultrasound:
- litho tsa pelvic - ho etsa qeto ea mafu a ho ikatisa ho basali, lisosa tsa ho hloka ts'ebeliso;
- ho hōla ha lesea - ho fumanoa ho fokola ha congenital le boteng ba mafu a itseng a chromosomal.
Kalafo ea mafu a liphatsa tsa lefutso
Kalafo e etsoa ka mekhoa e meraro:
- Symptomatic. Ha se felise sesosa sa lefu lena, empa se tlosa matšoao a bohloko le se thibelang tsoelo-pele e eketsehileng ea lefu lena.
- Aetiological. E ama ka ho toba lisosa tsa lefu lena ka thuso ea mekhoa ea khalemelo ea lefutso.
- Pathogenetic. E sebelisetsoa ho fetola litsamaiso tsa 'meleng le tsa likokoana-hloko' meleng.
Mefuta ea mafu a liphatsa tsa lefutso
Maloetse a futsanehileng a lefutso a arotsoe ka lihlopha tse tharo:
- Likarolo tsa Chromosomal.
- Maloetse a monogenic.
- Maloetse a li-Polygenic.
Re lokela ho hlokomela hore mafu a congenital ha a matleng a lefutso. hangata, li hlaha ho tsoa tšenyo e tsitsitseng ho lesea kapa lesapo le tšoaetsanoang.
Lethathamo la mafu a liphatsa tsa lefutso
Maloetse a tloaelehileng ka ho fetisisa:
- hemophilia;
- bofofu ba 'mala;
- Down syndrome;
- cystic fibrosis;
- spina bifida;
- Lefu la Canavan;
- Pelitseus-Merzbacher leucodystrophy;
- neurofibromatosis;
- Lefu la Angelmann;
- Lefu la Thea-Sachs;
- Lefu la Charcot-Marie;
- Lefu la Joubert;
- Lefu la Prader-Willi;
- Lefu la Turner;
- Lefu la Klinefelter;
- phenylketonuria.
Maloetse a sa tloaelehang ka ho fetisisa a lefutso:
- maikutlo a fosahetseng a Capgrass;
- lefu la setopo se phelang;
- lata;
- Lefu la Klein-Levin;
- progeria;
- lefu la tlou;
- sharpened reflexion;
- micropsy;
- cicero;
- Lefu la Stendhal;
- lefu la hlooho e phatlohang;
- Roben's syndrome.
Maloetse a mangata a letlalo la liphatsa tsa lefutso:
- porphyria;
- moleng oa Blashko;
- lefu la letlalo la letlalo;
- hypertrichosis;
- Lefu la Günther.