Uyazazi yini izifo zeNiemann-Pick? Ake sixoxe ngalesi simo esingavamile!

Wake wezwa ngento ebizwa ngokuthi i-Niemann-Pick Disease? Mhlawumbe leli gama lisha kuwe. Empeleni liyisifo esingavamile, esihambisana nofuzo esitholakala emindenini. Sibangela ukuba izinto ezibalulekile emizimbeni yethu, ikakhulukazi amafutha, ziqongeleleke ngokungalawuleki. Ngakho ake sixoxe ngalesi sifo namuhla, akunjalo?

Iyini iNiemann-Pick Disease?

Kalula nje, isifo se-Niemann-Pick yisimo lapho amafutha, njengamafutha, ama-fatty acid, kanye ne-cholesterol, eqoqana khona emaseli ethu esikhundleni sokuthi aphuke kahle futhi aguqulwe abe amandla. Lezi yizinkinga ze-metabolic ezizuzwe njengefa , okusho ukuthi zingadluliselwa kusuka kubazali ziye ezinganeni. Ngale ndlela, amafutha ayingozi aqoqana ezindaweni ezifana nobuchopho, ubende, isibindi, amaphaphu kanye nomnkantsha wamathambo.

Yiziphi izimpawu ezivamile zalesi sifo?

Uma amafutha eqongelela ngale ndlela, kungavela izimpawu ezahlukahlukene. Abanye abantu babhekana nezinkinga ezihlobene nesimiso sezinzwa.

• I-Ataxia: Lokhu ukungakwazi ukulawula imisipha ngesikhathi sokunyakaza ngamabomu, isibonelo, lapho uhamba.
• Ukuncipha kwamandla emisipha.
• Ukwehla kancane kancane kokusebenza kobuchopho.
• Ukuzwela okukhulu ekuthinteni.
• Ukuqaqamba: Lokhu kusho ukuthi imisipha iqinile futhi inyakaza ngendlela engavamile.
• Ukukhubeka ngenkathi ekhuluma.

Ngaphezu kwalokho, kungase kube nobunzima bokudla nokugwinya, ukukhubazeka kwamehlo, ukukhubazeka kokufunda, kanye nokukhula kwesibindi kanye ne-spleen. Ngezinye izikhathi, kungase kube nokufiphala kwe-cornea kanye ne -halo ebomvu njenge-cherry enkabeni ye-retina.

Ingabe zikhona izinhlobo eziyinhloko zesifo sikaNiemann-Pick?

Yebo, kunezinhlobo ezintathu eziyinhloko zalesi sifo: izinhlobo A, B, kanye no-C.

Uhlobo A:

Lolu uhlobo olubi kakhulu lwalesi sifo. Ngokuvamile luthinta izingane ezincane, ngokuvamile zingakabi nezinyanga ezimbalwa ubudala . Luvame kakhulu emindenini yamaJuda.

• Izimpawu ziwukulahlekelwa kancane kancane kwengqondo.
• Isibindi kanye ne-spleen kuyakhula.
• Ama-lymph node avuvukele.
• Ezinyangeni eziyisithupha, kungenzeka umonakalo omkhulu ebuchosheni .

Ngokudabukisayo, lezi zingane zohlobo A azivamile ukuphila zidlule izinyanga ezingu-18 ngokwesilinganiso.

Uhlobo B:

Lokhu kuvame ukuvela ebuntwaneni, cishe eminyakeni eyishumi noma eyishumi nambili .

• Laba bantu bangase babe nezimpawu ezifana ne-ataxia kanye ne-peripheral neuropathy.
• Kodwa isikhathi esiningi, akunawo umthelela omkhulu ebuchosheni.
• Laba bantu bangase babe nezinkinga zokukhula kwesibindi kanye nobende kanye namaphaphu.

Isizathu sazo zombili izinhlobo A kanye no-B:

Isizathu esiyinhloko sokuthuthukiswa kwalezi zinhlobo ezimbili ukuthi i-enzyme i-sphingomyelinase , esiza ekuqhekekeni kwe-lipid ebizwa ngokuthi i-sphingomyelin, ekhona kuwo wonke amaseli omzimba wethu, ayisebenzi ngokwanele. Ngenxa yalokho, i-lipid ebizwa ngokuthi i-sphingomyelin iqoqana emaseli ngobuningi obunobuthi.

Uhlobo C:

Lolu hlobo lungaqala esemncane, noma lungabonakala ebuntwaneni noma ebudaleni .

• Lokhu kubangelwa ukuntuleka kwamaprotheni amabili abizwa ngokuthi ama-NPC1 noma ama-NPC2 protein .
• Laba bantu bangaba nomonakalo omkhulu wobuchopho, okungabangela ubunzima bokubheka phezulu naphansi, ubunzima bokuhamba nokugwinya, kanye nokulahlekelwa kancane kancane umbono nokuzwa.
• Isibindi kanye ne-spleen nakho kungakhula kancane.
• Ngaphambilini, abantu abakulolu hlobo C, ababenesizinda esifanayo sookhokho endaweni ebizwa ngokuthi iNova Scotia, nabo babebizwa ngokuthi uhlobo D. Kodwa manje selungaphansi kohlobo C.

Ingabe ikhona indlela yokwelapha lokhu?

Eqinisweni, ayikho ikhambi lesifo sikaNiemann-Pick. Njengamanje, kunezindlela zokwelapha ezisekelayo kuphela ezilawula izimpawu futhi zinikeze impumuzo. Ngokuvamile, lezi zingane zingalahlekelwa izimpilo zazo ngenxa yokutheleleka noma ubuthakathaka obuncane kancane besimiso sezinzwa.

• Okwamanje akukho ukwelashwa okuphumelelayo kulabo abanohlobo A.
• Abanye abantu abanohlobo B bake bafakelwa umnkantsha . Abacwaningi bakholelwa nokuthi izinto ezifana nokwelashwa kokushintsha ama-enzyme kanye nokwelashwa ngezakhi zofuzo zingaba usizo kubantu abanohlobo B esikhathini esizayo.
• Ukulawula lokho okudlayo nokuphuzayo akukwazi ukuvimba lezi zinhlobo zamafutha ukuthi zingaqongelelani emaseli nasezicutshini.

Liyini ikusasa lalesi sifo?

Ikusasa lalesi sifo, okungukuthi, ukuthi isiguli singaphila isikhathi esingakanani nokuthi impilo yaso izoba njani, liyahlukahluka kuye ngohlobo lwesifo.

• Izingane ezinesifo sohlobo A , njengoba kushiwo ngaphambili, ziyafa zisencane .
• Izingane ezinohlobo B zingaphila isikhathi eside kancane kunezinye, kodwa kungadingeka zinikezwe umoya-mpilo owengeziwe ngenxa yemiphumela emaphashini.
• Isikhathi sokuphila kwabantu abanohlobo C siyahlukahluka. Abanye abantu bangase bafe besebancane, kodwa abanye abantu abanezimpawu ezingatheni kangako bangaphila baze babe badala .

Yiluphi ucwaningo olusha olwenzekayo ngalokhu?

Ucwaningo ngesifo sikaNiemann-Pick lwenziwa ezingxenyeni ezahlukene zomhlaba, ikakhulukazi eNational Institute of Neurological Disorders and Stroke (NINDS) e-United States, kanyeIzikhungo ezifana neNational Institutes of Health (NIH) ziyahola kulokhu.

• Bebelokhu befuna izakhi zofuzo ezifaka isandla ekuthuthukisweni kwalesi sifo. Isibonelo, bathole izakhi zofuzo ezimbili ezinephutha (i-NPC1 kanye ne-NPC2) ezibangela uhlobo C lwe-Niemann-Pick.
• Ososayensi baphenya futhi ngezindlela lokhu kuqongelela kwamafutha okulimaza ngazo umzimba.
• Ucwaningo luyaqhubeka nokuhlonza ama-biomarker , noma izimpawu ezibonisa ukuba khona kwesifo, ezingasiza ekuhlonzeni izinkinga zokugcina amafutha kusenesikhathi. Kuthenjwa ukuthi lokhu kuzosiza ekuthuthukiseni ukuxilongwa.

Ekugcineni, kufanele uthi...

Kulungile, ngakho-ke ngithemba ukuthi unombono othile ngalokho esikhulume ngakho ngeNiemann-Pick Disease.

Khumbula lokhu: Isifo i-Niemann-Pick siyisifo esingavamile, esizuzwe njengefa esibangela ukunqwabelana kwamafutha emzimbeni ngendlela engavamile.

• Kunezinhlobo ezintathu eziyinhloko zalesi sifo, u-A, u-B, no-C , ngasinye sinezimpawu nobunzima obuhlukile.
• Uhlobo A lunzima kakhulu futhi luthinta izingane ezincane. Uhlobo B lungavela ebuntwaneni, kanti uhlobo C lungavela kunoma yimuphi ubudala.
• Akukabikho ikhambi eliphelele lalokhu , ukwelashwa okusekelayo kuphela okulawula izimpawu.
• Kodwa ucwaningo luyaqhubeka nokuthola izindlela ezintsha zokwelapha.
• Uma othile emndenini wakho enalezi zimpawu, noma uma ufuna ukufunda kabanzi ngalesi sifo, kungcono ukubona uchwepheshe ukuze akunike iseluleko . Ungabheka futhi amaqembu okusekela kanye nezinhlangano ezisiza abantu abanalezi zifo ezingavamile kanye nemindeni yabo.

Sithemba ukuthi lolu lwazi luwusizo kuwe. Hlala uphilile!

Isifo sikaNiemann -Pick, izifo zofuzo, ukuqoqwa kwamafutha, izifo zezingane, isimiso sezinzwa, izifo ezingavamile