Menene cutar Niemann-Pick, alamomi da magani

Wadatacce

• Babban bayyanar cututtuka
• 1. Rubuta A
• 2. Rubuta B
• 3. Rubuta C
• Me ke haifar da cutar Niemann-Pick
• Yadda ake yin maganin

Cutar Niemann-Pick cuta ce ta ƙwayoyin cuta wacce ba ta cika faruwa ba wanda ke tattare da haɗuwar macrophages, waɗanda ƙwayoyin jini ne da ke da alhakin kare kwayar halitta, cike da ruwan leda a wasu gabobin kamar kwakwalwa, saifa ko hanta, misali.

Wannan cutar ta fi shafar rashi a cikin enzyme sphingomyelinase, wanda ke da alhakin narkar da kitse a cikin kwayoyin, wanda ke sa kitse ya taru a cikin sel, wanda ke haifar da alamun cutar. Dangane da gabar da cutar ta shafa, tsananin rashi enzyme da kuma shekarun da alamomi da alamomi ke bayyana, ana iya kasafta cutar Niemann-Pick zuwa wasu nau'ikan, manyan sune:

• Nau'in A, wanda kuma ake kira mai saurin cutar neuropathic Niemann-Pick, wanda shine nau'in mafi tsananin kuma galibi yana bayyana a farkon watannin rayuwa, yana rage rayuwa zuwa kusan shekaru 4 zuwa 5;
• Nau'in B, wanda ake kira visceral Niemann-Pick cuta, wanda shine nau'ikan nau'I na A wanda ke ba da damar rayuwa har zuwa girma.
• Rubuta C, wanda kuma ake kira cututtukan neuropathic na Niemann-Pick, wanda shine nau'ikan da aka fi sani wanda ya saba bayyana yayin yarinta, amma zai iya bunkasa a kowane zamani, kuma nakasa ce ta enzyme, wanda ke tattare da tarin cholesterol mara kyau.

Har yanzu ba a sami maganin cutar Niemann-Pick ba, duk da haka, yana da muhimmanci a riƙa kai wa likitan yara ziyara akai-akai don a tantance ko akwai alamun cutar da za a iya magance su, don inganta rayuwar yaron.

Babban bayyanar cututtuka

Alamun cutar Niemann-Pick sun bambanta dangane da nau'in cuta da gabobin da abin ya shafa, don haka alamun da aka fi sani a cikin kowane nau'i sun haɗa da:

1. Rubuta A

Alamomin cututtukan Niemann-Pick nau'in A yawanci suna bayyana tsakanin watanni 3 zuwa 6, da farko ana nuna shi da kumburin ciki. Bugu da kari, ana iya samun matsala wajen girma da samun kiba, matsalolin numfashi wadanda ke haifar da cututtuka masu saurin faruwa da ci gaban tunanin mutum na al'ada har zuwa watanni 12, amma daga baya ya tabarbare.

2. Rubuta B

Nau'in B alamun suna kama da na irin cutar A Niemann-Pick, amma galibi ba su da ƙarfi sosai kuma suna iya bayyana a yara ko daga baya, misali. Yawancin lokaci akwai ƙananan ko babu lalacewar hankali.

3. Rubuta C

Babban alamun cutar C irin Niemann-Pick sune:

• Wahala wajen daidaita motsi;
• Kumburin ciki;
• Matsalar motsa idanunka a tsaye;
• Rage ƙarfin tsoka;
• Matsalar hanta ko huhu;
• Matsalar magana ko haɗiye, wanda ƙila zai iya zama mafi muni a kan lokaci;
• Raɗaɗɗu;
• A hankali a hankali a hankali.

Lokacin da alamomi suka bayyana waɗanda zasu iya nuna wannan cuta, ko kuma idan akwai wasu lamura a cikin iyali, yana da mahimmanci a tuntubi likitan jiji ko babban likita don gwaje-gwaje don taimakawa kammala cikar cutar, kamar gwajin ƙwaƙwalwar ƙashi ko biopsy na fata, don tabbatar da kasancewar cutar.

Me ke haifar da cutar Niemann-Pick

Niemann-Pick cuta, nau'in A da nau'in B, yana tasowa lokacin da ƙwayoyin ɗayan ko fiye da gabobi ba su da wani enzyme da aka sani da sphingomyelinase, wanda ke da alhakin maye gurbin ƙwayoyin da ke cikin ƙwayoyin. Don haka, idan enzyme bai kasance ba, ba za a cire kitsen kuma ya taru a cikin tantanin halitta ba, wanda hakan zai iya lalata kwayar da nakasa aikin gabobin.

Nau'in C na wannan cutar na faruwa ne yayin da jiki ya kasa narkewar ƙwayar cholesterol da sauran nau'ikan kitse, wanda ke haifar musu da haɗuwa a cikin hanta, saifa da kwakwalwa da haifar da bayyanar alamun.

A kowane hali, cutar tana faruwa ne sakamakon canjin yanayin da zai iya wucewa daga iyaye zuwa yara kuma, sabili da haka, ya fi yawa a cikin iyali ɗaya. Kodayake iyaye na iya rashin cutar, amma idan akwai lamura a cikin iyalai biyun, akwai yiwuwar kashi 25% na za a haife jaririn tare da cutar Niemann-Pick.

Yadda ake yin maganin

Tunda har yanzu ba a sami maganin warkar da cutar Niemann-Pick ba, sannan kuma babu takamaiman hanyar magani kuma, saboda haka, yana da muhimmanci likita ya sa ido a kai a kai don gano alamomin farkon da za a iya magance su, don inganta rayuwar. .

Don haka, idan ya zama da wuya a haɗiye, alal misali, yana iya zama dole a guji abinci mai wuya da ƙarfi, tare da amfani da gelatin don sanya ruwan ya yi kauri. Idan akwai saurin kamuwa da cuta, likitanku na iya ba da umarnin wani magani na hana daukar ciki, kamar su Valproate ko Clonazepam.

Sanarwar kawai da ke nuna cewa tana da magani wanda zai iya kawo jinkiri ga ci gabanta shi ne nau'ikan C, tunda bincike ya nuna cewa sinadarin miglustat, wanda aka sayar da shi azaman Zavesca, yana toshe samuwar alamun duwatsu a cikin kwakwalwa.