Isifo sikaHirschsprung (HSCR) sibonakala ngokukhubazeka engxenyeni yokugcina yamathumbu amakhulu.

Lesi sifo sivela kusukela ekuzalweni futhi siwumphumela wokungabikho kwe-nerve ganglia (amangqamuzana akha iqhubu endleleni yemizwa) odongeni lwamathumbu.

Ukugwinya ukudla ngomgudu wokugaya ukudla kuze kukhishwe, ikakhulukazi, ngenxa ye-peristalsis yamathumbu. Le peristalsis iqoqo lokufinyela kwemisipha yamathumbu okuvumela ukuqhubekela phambili kwe-bolus yokudla eduze komgudu wokugaya ukudla.

Kulesi simo lapho kungekho khona i-nerve ganglia emathunjini amakhulu, i-peristalsis ayisanikezwa ngumzimba. Ngalo mqondo, ukuvuleka kwamathumbu kanye nokwanda kwevolumu yawo kwakhiwa.

Izimpawu ezihambisanayo zibaluleke kakhulu uma indawo ye-nerve ganglia inkulu. (1)

Ngakho-ke lesi sifo sichazwa izimpawu zamathumbu atypical: ukuvinjelwa kwamathumbu. Kuwukuvinjwa kokuhamba kanye negesi okuholela ebuhlungu besisu, i-colic (amajaqamba emathunjini), isicanucanu, ukuqunjelwa, njll.

I-HSCR ithinta cishe umntwana oyedwa kwabayi-1 ngonyaka. Ifomu elithinta ingxenye yokugcina yekholoni (ithumbu elikhulu) lithinta kakhulu abafana. (5) Amantombazane angaphansi kakhulu ekukhuleni kwalesi sifo ngendlela esabalele kakhulu. (000)

Le pathology ithinta kakhulu izingane kanye nezingane. (3)

Izinhlobo ezimbalwa zesifo zibonisiwe (2):

- umumo "wakudala", noma obuye ubizwe ngokuthi "umumo wesigaba esifushane". Leli fomu livame kakhulu ezigulini ezinalesi sifo, kuze kufike ku-80%. Lolu hlobo lwesifo luthinta ingxenye yokugcina yekholoni engxenyeni ye-rectal;

 - ifomu elithi "isigaba eside", elidlulela kukholoni ye-sigmoid, lithinta cishe i-15% yeziguli;

- Ifomu "eliphelele le-colic", elithinta ikholoni lilonke, lithinta i-5% yeziguli.

Ukuhamba kwamathumbu kulawulwa isimiso sezinzwa. Ngakho-ke i-nerve ganglia itholakala emathunjini evumela ukudluliswa kolwazi kusuka ebuchosheni ukuze kulawulwe i-peristalsis yamathumbu futhi ngaleyo ndlela ukuqhubeka kokudla eduze komgudu wokugaya ukudla.

Ukungabikho kwala ma-node, esimweni se-Hirschsprung’s disease, kuvimbela noma yikuphi ukudluliswa kolwazi futhi ngaleyo ndlela kuvimbe i-peristalsis yamathumbu. Ukudla akusakwazi ukudlula emathunjini futhi kugcine kuvimbekile emgudwini wokugaya ukudla.

Izimpawu zalesi sifo ngokuvamile zibonakala zisanda kuzalwa. Nokho, kwezinye izimo, zingavela ngemva konyaka owodwa noma emibili. (3)

Izimpawu ezithinta izingane ezisanda kuzalwa kanye nezingane ikakhulukazi:

- ubunzima bezokuthutha;

- ukungakwazi ukukhipha i-meconium (indle yokuqala yosana olusanda kuzalwa) phakathi namahora angu-48 okuqala;

- ukuqunjelwa;

- i-jaundice;

- ukuhlanza;

- isifo sohudo;

- ubuhlungu besisu;

– ukungondleki kahle.

Izimpawu ezithinta izingane ezindala yilezi:

- ukuqunjelwa okunzima nezinkinga (ukwehluleka ukukhula ngobude nesisindo);

- ukudla okungenamsoco;

- ukuphazamiseka kwesisu;

– umkhuhlane.

Ingane ingase futhi ihlakulele izifo zamathumbu, njenge-enterocolitis.

Okunye okungavamile kungase kubonakale: ukulahlekelwa kwezinzwa (i-Waardenburg-Shah syndrome), ukukhubazeka kwengqondo (i-Mowat-Wilson syndrome), i-alveolar hypoventilation ephakathi (i-Haddad syndrome), ukungahambi kahle kwemilenze (i-Bardet-syndrome) i-Biedl), umdlavuza we-medullary thyroid (multiple endocrine uhlobo lwe-neoplasia 2B) noma ukungajwayelekile kwe-chromosomal (Down syndrome). (2)

Isifo sika-Hirschsprung sibangelwa ukungavamile ekuthuthukisweni kwesimiso sezinzwa ze-enteric. Kuyi-aganglionosis, okungukuthi ukungabikho kwe-nerve ganglia (ebizwa nangokuthi “amaseli e-Cajal”) emathunjini. Lokhu kushoda kwama-lymph node ikakhulukazi kutholakala engxenyeni yokugcina yamathumbu amakhulu (ikholoni).

Esihlokweni esithintekayo yile pathology, le ngxenye yamathumbu ngakho-ke ihlala isesimweni se-tonic kanye ne-contraction unomphela. Lesi simo siholela ekuvinjweni kwamathumbu. (2)

Kokubili izici zofuzo nezemvelo ziye zaba nomthelela ekuthuthukisweni kwesifo sika-Hirschsprung. (2)

Ngempela, izakhi zofuzo ezithile ziye zaboniswa ekuthuthukisweni kwalesi sifo. Kuyisifo se-polygenetic esithinta ikakhulukazi izakhi zofuzo:

– I-Proco-oncogene ret (RET);

– i-glial cell-derived neutrophic factor gene (GDNF);

- uhlobo B lwe-endothelin receptor gene (EDNRB);

I-endothelin 3 gene (EDN3);

- isakhi sofuzo se-endothelin 1 eguqula i-enzyme 1 (ECE1);

- isakhi sofuzo se-cell adhesion molecule L1 (L1CAM).

Njengoba kushiwo ngaphambili, isifo sika-Hirschsprung siwumphumela wokungabi bikho kwe-nerve ganglia emathunjini amakhulu kuze kufike ku-anus, ukuvimbela i-peristalsis yamathumbu futhi ngenxa yalokho ukukhuphuka kokudla kuze kufike kuleli zinga.

Lokhu kushoda kwamaseli e-Cajal (i-nerve ganglia) kuwumphumela wokushoda ekukhuleni kwalawa maseli ngesikhathi sokukhula kombungu. Izimbangela zalokhu kuntuleka kokukhula kwamangqamuzana ngaphambi kokuzalwa azikaziwa. Noma kunjalo, ithuba lobuhlobo phakathi kwempilo evamile kamama ngesikhathi sokukhulelwa kanye nokungabikho kwalolu hlobo lwamaseli ku-fetus kuye kwabekwa phambili.

Izakhi zofuzo eziningi ziye zaboniswa ekukhuleni kwalesi sifo. Ukuba khona kwalezi zakhi zofuzo kungaba njalo emndenini ofanayo. Ingxenye yofuzo izoba lapho-ke ukuqala kokukhula kwalesi sifo.

Ngaphezu kwalokho, ama-pathologies athile nawo angaba yisici esengeziwe sobungozi ngokuya ngokuthuthukiswa kwesifo sika-Hirschsprung. Lokhu kunjalo ikakhulukazi nge-Down's syndrome. (3)

Ukuxilongwa okuhlukile kwenziwa ngokwezimpawu zesici zesifo esivezwa yisihloko: ukuvinjwa kwamathumbu, i-anorectal stenosis, amathumba e-pelvic, njll. (2)

Ukuxilongwa okuvame ukuhlotshaniswa nesifo kwenziwa nge-rectal biopsy. Le biopsy ibonisa ukuba khona noma ukungabikho kwe-nerve ganglia emathunjini amakhulu. Ukwengeza, i-overexpression ye-acetylcholine esterase (i-enzyme evumela i-acetylcholine ukuba i-hydrolyzed ibe i-acetic acid ne-choline). (2)

I-barium enema (ukuhlolwa kwe-X-ray ukuze ubone ngeso lengqondo ithumbu elikhulu) nakho kungenziwa ekuxilongweni kwalesi sifo. Le ndlela yenza kube nokwenzeka ukubona ngeso lengqondo indawo edlulayo yokungabikho kwamangqamuzana ezinzwa, okubonisa ukukhula kwesifo sika-Hischsprung. Nokho, le ndlela yokuxilonga ayithembekile ngo-100%. Ngempela, u-10 kuya ku-15% wezimo ze-Hirschsprung ngeke zitholwe ngemva kwalo mzamo wokuxilonga. (4)

Ukwelashwa okubaluleke kakhulu kwesifo ukuhlinzwa. Ivumela ukukhishwa kwengxenye yamathumbu entula amangqamuzana ezinzwa. (4)

Esimeni somonakalo ophelele kukholoni, ukufakelwa kwekholoni kungase kudingeke. (2)

Ngemva kwalokhu, i-ostomy (inqubo yokuhlinzwa evumela ukuxhumana phakathi kwezitho ezimbili) ingenziwa ukuze kuxhunywe ingxenye esebenzayo yamathumbu ne-anus noma nengxenye engenhla yamathumbu. Lesi sifo singaba esaphakade noma sesikhashana kuye ngecala. (4)

Ukuhlinzwa kusiza ukunciphisa izimpawu ezihlobene nesifo. Kodwa-ke, ukubikezela akuphelele futhi izinkinga zokuvuvukala zingavela futhi zibulale.