Ngaba uyayazi iNiemann-Pick Disease? Makhe sithethe ngale meko ingaqhelekanga!

Ngaba wakha weva ngento ebizwa ngokuba yiNiemann-Pick Disease? Mhlawumbi eli gama litsha kuwe. Eneneni sisifo esingaqhelekanga, esifumaneka kwiintsapho. Sibangela ukuba izinto ezibalulekileyo emizimbeni yethu, ingakumbi amafutha, ziqokeleleke ngokungalawulekiyo. Ngoko masithethe ngesi sifo namhlanje, akunjalo?

Yintoni iNiemann-Pick Disease?

Ngamafutshane, isifo sikaNiemann-Pick sisifo apho ii-lipids, ezinje ngeeoyile, ii-fatty acids, kunye ne-cholesterol, ziqokelelana kwiiseli zethu endaweni yokuba ziqhekeke ngokufanelekileyo kwaye ziguqulwe zibe ngamandla. Ezi ziingxaki ze-metabolic ezizuzwe njengelifa , oko kuthetha ukuba zinokudluliselwa ukusuka kubazali ukuya ebantwaneni. Ngale ndlela, ii-lipids eziyingozi ziqokelelana kwiindawo ezifana nengqondo, i-spleen, isibindi, imiphunga, kunye nomongo wamathambo.

Ziziphi iimpawu eziqhelekileyo zesi sifo?

Xa amafutha eqokelelana ngale ndlela, iimpawu ezahlukeneyo zinokubakho. Abanye abantu bafumana iingxaki ezinxulumene nenkqubo yemithambo-luvo.

• I-Ataxia: Oku kukungakwazi ukulawula izihlunu ngexesha lokunyakaza ngabom, umzekelo, xa uhamba.
• Ukuncipha kwamandla emisipha.
• Ukuhla kancinci kancinci ekusebenzeni kwengqondo.
• Uvakalelo oluphezulu xa uchukumisa.
• Ukuqaqamba: Oku kuthetha ukuba izihlunu ziqinile kwaye zihamba ngendlela engaqhelekanga.
• Ukukhubeka ngelixa ethetha.

Ukongeza, kunokubakho ubunzima bokutya nokuginya, ukukhubazeka kwamehlo, iingxaki zokufunda, kunye nokwanda kwesibindi kunye ne-spleen. Ngamanye amaxesha, kunokubakho amafu kwi-cornea kunye ne- halo ebomvu-cherry embindini we-retina.

Ngaba kukho iintlobo eziphambili zesifo sikaNiemann-Pick?

Ewe, kukho iintlobo ezintathu eziphambili zesi sifo: iintlobo A, B, kunye no-C.

Uhlobo A:

Olu lolona hlobo lubi kakhulu lwesi sifo. Sidla ngokuchaphazela iintsana ezincinci, ngesiqhelo ngaphambi kokuba zibe neenyanga ezimbalwa ubudala . Sixhaphake kakhulu kwiintsapho zamaYuda.

• Iimpawu kukulahlekelwa kancinci kancinci kwengqondo.
• Isibindi kunye ne-spleen ziyanda.
• Ii-lymph nodes ziyadumba.
• Kwiinyanga ezintandathu, kunokwenzeka umonakalo omkhulu engqondweni .

Okubuhlungu kukuba, ezi mveku zohlobo lwe-A azifane ziphile ixesha elingaphezulu kweenyanga ezili-18 ngokomyinge.

Uhlobo B:

Oku kudla ngokubonakala ebuntwaneni, malunga neminyaka elishumi okanye elishumi elinesibini .

• Aba bantu banokufumana iimpawu ezifana ne-ataxia kunye ne-peripheral neuropathy.
• Kodwa uninzi lwexesha, ayinampembelelo ingako engqondweni.
• Aba bantu banokuba neengxaki zesibindi kunye ne-spleen kunye nemiphunga.

Isizathu sazo zombini iintlobo A kunye no-B:

Eyona sizathu siphambili sokuphuhliswa kwezi ntlobo zimbini kukuba i-enzyme i-sphingomyelinase , enceda ekuqhekekeni kwe-lipid ebizwa ngokuba yi-sphingomyelin, ekhoyo kwiseli nganye yomzimba wethu, ayisebenzi ngokwaneleyo. Ngenxa yoko, i-lipid ebizwa ngokuba yi-sphingomyelin iqokelelana kwiiseli ngobuninzi obunobuthi.

Uhlobo C:

Olu hlobo lunokuqala kwasebuntwaneni, okanye lunokubonakala xa umntu efikisa okanye emdala .

• Oku kubangelwa kukunqongophala kweeproteni ezimbini ezibizwa ngokuba ziiproteni ze-NPC1 okanye ze-NPC2 .
• Aba bantu banokuba nomonakalo omkhulu engqondweni, nto leyo enokubangela ubunzima bokujonga phezulu nasezantsi, ubunzima bokuhamba nokuginya, kunye nokulahlekelwa kancinci kancinci kokubona nokuva.
• Isibindi kunye ne-spleen nazo zinokwandiswa ngokulinganisela.
• Ngaphambili, abantu abakulolu hlobo C, ababenemvelaphi efanayo yookhokho kwindawo ebizwa ngokuba yiNova Scotia, babebizwa ngokuba luhlobo D. Kodwa ngoku luphantsi kohlobo C.

Ngaba ikhona indlela yokunyanga oku?

Enyanisweni, akukho nyango lwesifo sikaNiemann-Pick. Okwangoku, kukho unyango oluxhasayo kuphela olulawula iimpawu kwaye lunike isiqabu. Amaxesha amaninzi, aba bantwana banokuphulukana nobomi babo ngenxa yosulelo okanye ubuthathaka obuhamba kancinci kancinci benkqubo yemithambo-luvo.

• Okwangoku akukho nyango lusebenzayo kwabo bane -Type A.
• Abanye abantu abanohlobo B baye bafakelwa umongo wethambo . Abaphandi bakwakholelwa ukuba izinto ezifana nonyango lokutshintshwa kwee-enzyme kunye nonyango lwezakhi zofuzo zinokuba luncedo kubantu abanohlobo B kwixesha elizayo.
• Ukulawula ukutya nokuselayo akunakukuthintela olu hlobo lwamafutha ekuqokeleleni kwiiseli nakwizicubu zomzimba.

Liyintoni ikamva lesi sifo?

Ikamva lesi sifo, oko kukuthi, ixesha elingakanani isigulane esinokuphila ngalo kunye nendlela ubomi baso obuza kuba yiyo, liyahluka ngokuxhomekeke kuhlobo lwesifo.

• Iintsana ezine- Type A , njengoko bekutshiwo ngaphambili, ziyafa ziseziintsana .
• Abantwana abanohlobo B banokuphila ixesha elide kancinci kunabanye, kodwa banokufuna ukunikwa ioksijini eyongezelelweyo ngenxa yemiphumo ebangelwa yimiphunga.
• Ubomi babantu abanohlobo C buyahluka. Abanye abantu banokufa besebancinci, kodwa abanye abantu abangenazo iimpawu eziqatha kangako banokuphila bade babe badala .

Luluphi uphando olutsha oluqhubekayo ngale nto?

Uphando ngesifo sikaNiemann-Pick lwenziwa kwiindawo ezahlukeneyo zehlabathi, ingakumbi kwiNational Institute of Neurological Disorders and Stroke (NINDS) eMelika, kunyeAmaziko afana neNational Institutes of Health (NIH) ayakhokela koku.

• Bebekhangela ii-genes ezinegalelo ekuphuhlisweni kwesi sifo. Umzekelo, bachonge ii-genes ezimbini ezineengxaki (i-NPC1 kunye ne-NPC2) ezibangela uhlobo lwe-Niemann-Pick C.
• Izazinzulu zikwaphanda ngeendlela ezithi oku kuqokelelwa kwamafutha konakalisa ngazo umzimba.
• Kukwaqhutywa uphando lokuchonga ii-biomarkers , okanye iimpawu ezibonisa ukuba kukho isifo, ezinokunceda ekuchongeni iingxaki zokugcina amafutha emzimbeni kwangethuba. Kuthenjwa ukuba ezi ziya kunceda ukuphucula ukuxilongwa.

Ekugqibeleni, kufuneka uthi...

Kulungile, ngoko ke ndiyathemba ukuba ufumene umbono othile kwinto esithethe ngayo ngeNiemann-Pick Disease.

Khumbula oku: Isifo sikaNiemann-Pick sisifo esingaqhelekanga, esizuzwe njengelifa esibangela ukuqokelelana okungaqhelekanga kwamafutha emzimbeni.

• Kukho iintlobo ezintathu eziphambili zesi sifo, u-A, u-B, kunye no-C , nganye ineempawu ezahlukeneyo kunye nobunzima.
• Uhlobo A lolona lunzima kakhulu kwaye luchaphazela iintsana ezincinci. Uhlobo B lunokuvela ebuntwaneni, kwaye uhlobo C lunokuvela nakweyiphi na iminyaka.
• Akukabikho unyango olupheleleyo lwale nto , kukho unyango oluxhasayo kuphela olulawula iimpawu.
• Kodwa uphando luyaqhubeka nokufumana unyango olutsha.
• Ukuba kukho umntu kusapho lwakho onale mpawu, okanye ukuba ufuna ukufunda okungakumbi ngesi sifo, kungcono ukubona ingcali ukuze ikunike iingcebiso . Ungajonga namaqela enkxaso kunye nemibutho enceda abantu abanezi zifo zingaqhelekanga kunye neentsapho zabo.

Siyathemba ukuba olu lwazi luluncedo kuwe. Hlala usempilweni!

Isifo sikaNiemann -Pick, izifo zemfuza, ukutyeba kwamafutha, izifo zabantwana, inkqubo yemithambo-luvo, izifo ezingaqhelekanga