Niemann-Pick

I-Niemann-Pick yisigaba sezimo ezingavamile ezidluliselwa emindenini. Lezi zimo zithinta ikhono lomzimba lokwahlukanisa nokusebenzisa amafutha, njengokolesterol nama-lipid, ngaphakathi kwamaseli. Ngenxa yokwakheka kwamafutha, la maseli awasebenzi njengoba kufanele futhi, ngokuhamba kwesikhathi, amaseli afa. I-Niemann-Pick ingathinta ubuchopho, izicubu, isibindi, i-spleen kanye nomgogodla wamathambo. Ngezinye izikhathi ingathinta amaphaphu. Izimpawu ze-Niemann-Pick zihambisana nokusebenza okubi kwezinzwa, ubuchopho namanye amalungu ngokuhamba kwesikhathi. I-Niemann-Pick ingenzeka emazingeni ahlukene eminyaka kodwa ikakhulukazi ithinta izingane. Lesi simo asinayo imithi ephilile futhi ngezinye izikhathi sibulala. Ukwelashwa kugxile ekusizini abantu ukuba baphile nezimpawu zabo.

Izinhlobo ezintathu eziyinhloko zesifo seNiemann-Pick zibizwa ngokuthi yi-A, i-B ne-C. Izimpawu zihluka kakhulu kodwa kuncike ngokwengxenye ohlotsheni nokuthi isimo sibunzima kangakanani. Izimpawu zingafaka: Ukwehluleka kokulawula imisipha, njengokungabi nengqondo nezingqinamba ekuhambeni. Ubuthakathaka bemisipha nokuqina. Ukunyakaza okuqine kanye nokungabi nengqondo. Izinkinga zobuso, njengokulahleka kobuso nokwenza imizwa yamehlo okungenakulawulwa. Ukwehluleka kokuzwa. Ukuba nomuzwa wokuthinta. Izinkinga zokulala. Izinkinga zokugwinya nokudla. Inkulumo ephazamisekile. Izinkinga zokufunda nokukhumbula eziya ziba zimbi. Isimo sengqondo, njengokucindezeleka, ukungabaza kanye nezingqinamba zokuziphatha. Isibindi nespleen ezikhula kakhulu. Ukutheleleka okuphindaphindayo okubangela i-pneumonia. Abanye abantwana abanesihlobo se-A babonisa izimpawu ezinyangeni ezimbalwa zokuqala zokuphila. Labo abanesihlobo se-B bangase bangabonisi izimpawu iminyaka futhi banethuba elihle lokuphila de bafike ebuntwini. Abantu abanesihlobo se-C bangase baqale ukuba nezimpawu kunoma iyiphi iminyaka kodwa bangase bangabi nazimpawu kuze kube yilapho sebekhulu. Uma ukhathazekile ngokukhula nokukhula kwengane yakho, xoxa nochwepheshe wakho wezokunakekelwa kwezempilo. Uma ingane yakho ingasakwazi ukwenza ezinye zezinto ezazikwazi ukuzenza ngaphambili, bheka ochwepheshe wakho wezokunakekelwa kwezempilo ngokushesha.

Uma ukhathazekile ngokukhula nokuthuthuka kwengane yakho, xoxa nochwepheshe wezempilo wakho. Uma ingane yakho ingasakwazi ukwenza ezinye zezinto ezazikwazi ukuzenza ngaphambili, bheka uchwepheshe wezempilo wakho ngokushesha.

I-Niemann-Pick isifo sibangelwa izinguquko ezinjini ezikhethekile ezihlobene nendlela umzimba oqhekeza futhi usebenzisa amafutha. La mafutha afaka ikolesterol ne-lipids. Iinguquko ze-jini zidluliselwa kubazali kubantwana ngendlela ebizwa ngokuthi ukudluliselwa kwe-autosomal recessive. Lokhu kusho ukuthi umama nobaba bobabili kumele badlulisele i-jini eguqukile ukuze ingane ibe naleli bimo. Kunezinhlobo ezintathu ze-Niemann-Pick isifo: A, B ne-C. I-Niemann-Pick isifo izinhlobo A ne-B zombili zibangelwa izinguquko ku-SMPD1 i-jini. Leli bimo ngezinye izikhathi libizwa ngokuthi ukushoda kwe-acid sphingomyelinase (ASMD). Ngalezi zinguquko ze-jini, i-enzyme ebizwa ngokuthi i-sphingomyelinase (sfing-go-MY-uh-lin-ase) ayikho noma ayisebenzi kahle. Le enzyme idingeka ukuze iqhekeze futhi isebenzise ama-lipids abizwa ngokuthi i-sphingomyelin ngaphakathi kwamaseli. Ukubunjwa kwala mafutha kubangela ukonakala kwamaseli, futhi ngokuhamba kwesikhathi, amaseli afa. Uhlobo A - uhlobo olukhulu kunazo zonke - luqala ebuntwaneni. Izimpawu zihlanganisa isibindi esikhulu kakhulu, ukonakala kokukhulu kwengqondo nokulahleka kwama-nerve okuya kubi ngokuhamba kwesikhathi. Ayikho imithi. Abantwana abaningi abaphili ngaphezu kweminyaka embalwa. Uhlobo B - ngezinye izikhathi libizwa ngokuthi i-Niemann-Pick isifo esiqala ebuntwaneni - ngokuvamile luqala kamuva ebuntwaneni. Aluhileli ukonakala kwengqondo. Izimpawu zihlanganisa ubuhlungu be-nerve, izinkinga zokuhamba, izinkinga zobuso, kanye ne-liver ne-spleen eziyoba khulu kakhulu. Izinkinga ze-lungu nazo zingahle zenzeke. Abantu abaningi abane-type B baphila bekhulu. Kodwa izinkinga ze-liver ne-lungu ziya kubi ngokuhamba kwesikhathi. Abanye abantu banesimpawu ezihlanganisa izinhlobo A ne-B. I-Niemann-Pick isifo uhlobo C sibangelwa izinguquko ku-NPC1 ne-NPC2 i-jini. Ngalezi zinguquko, umzimba awunayo amaprotheni adingekayo ukuze uhambise futhi usebenzise ikolesterol nezinye i-lipids emaseleni. Ikolesterol nezinye i-lipids ziyakha emaseleni e-liver, spleen noma ama-lungu. Ngemuva kwesikhathi, ama-nerve nengqondo nawo athinteka. Lokhu kubangela izinkinga ngokuhamba kwamehlo, ukuhamba, ukugwinya, ukuzwa nokucabanga. Izimpawu zihlukahluka kakhulu, zingabonakala kunoma iyiphi iminyaka futhi zibe zimbi ngokuhamba kwesikhathi.