Shin ƙaramin yaronka yana da waɗannan alamun? Bari mu koyi game da Ciwon Sanfilippo

Shin kana lura da wani canji a cikin ɗabi'un ɗanka, magana, ko kamanninsa wanda kake ganin yana da wahalar fahimta? Wani lokaci ba mu da masaniya sosai game da wasu cututtuka da ke shafar ƙananan yara, don haka muna fara tunanin abu ɗaya bayan ɗaya. A yau, za mu yi magana game da wata cuta da ke da ɗan rikitarwa, amma wacce ya kamata kowa ya sani. Wannan ana kiranta Sanfilippo syndrome . Kada ka damu, za mu yi magana a kai dalla-dalla kuma a sauƙaƙe.

Menene Ciwon Sanfilippo?

A taƙaice dai, ciwon Sanfilippo cuta ce ta kwayoyin halitta da ake gado . A zahiri rukuni ne na cututtuka. Yana shafar tsarin jijiyoyi na tsakiya na yaronku, wanda shine kwakwalwa da kashin baya. Wannan na iya haifar da alamu iri-iri a yankunan fahimta, hali, da na jiki na yaron. Abin takaici, waɗannan alamomin suna ƙara ta'azzara akan lokaci, kuma wannan yanayin na iya rage tsawon rayuwar yara.

Wani suna na wannan shine mucopolysaccharidosis nau'in III (MPS III) .

Ka yi tunani a kai, a cikin ƙwayoyin halittarmu akwai ƙananan "cibiyoyin zubar da shara." Waɗannan ana kiransu lysosomes . Waɗannan su ne waɗanda ke wargazawa da cire abubuwan da ba a so, ko "shara," waɗanda ke taruwa a cikin ƙwayoyin halittar. Yaro mai fama da cutar Sanfilippo ba shi da isasshen ɗaya daga cikin enzymes huɗu da ake buƙata don wargaza wani hadadden carbohydrate da ake kira heparan sulfate ( wanda kuma ake kira glycosaminoglycan ). Saboda wannan enzyme ba ya aiki yadda ya kamata, sinadarin da ake kira heparan sulfate yana taruwa a cikin ƙwayoyin halittar yaron, kyallen jikinsa, da gabobinsa. Wannan taruwar yana haifar da lalacewa a gare su. Wannan shine abin da muke kira matsalar ajiyar lysosomal .

Akwai nau'ikan cutar Sanfilippo?

Eh, akwai manyan nau'ikan wannan guda huɗu. Kowanne nau'in yana faruwa ne sakamakon rashin wani enzyme daban.

• Nau'i na A: Rashin sinadarin enzyme sulfamidase.
• Nau'in B: Rashin sinadarin enzyme alpha-N-acetylglucosaminidase.
• Nau'in C: Rashin sinadarin enzyme heparan acetyl CoA: alpha-glucosaminide N-acetyltransferase.
• Nau'in D: Rashin sinadarin enzyme N-acetylglucosamine 6-sulfatase.

Daga cikin waɗannan, nau'in A shine nau'in da aka fi sani a duniya , yayin da nau'in D shine mafi ƙarancin yawan jama'a.

Yaya wannan ciwon ya zama ruwan dare?

Ciwon Sanfilippo cuta ce da ba kasafai ake samunta ba.A cewar masu bincike, wannan yana shafar kusan mutum ɗaya cikin mutane 50,000 zuwa 250,000. Don haka za ku iya ganin yadda wannan ba kasafai yake faruwa ba.

Mene ne alamun cutar Sanfilippo?

Alamomin da tsananin wannan yanayin na iya bambanta daga yaro zuwa yaro, haka kuma ya danganta da nau'in cutar. Wasu daga cikin alamun farko da za a iya gani a jarirai da ƙananan yara sun haɗa da:

• Siffofin fuska masu kauri .
• Gashin ido masu haske da faɗi.
• Samun gashin jiki fiye da yadda aka saba (hirsutism) ba ya raguwa da lokaci.
• Ya fi girman kai na yau da kullun girma (macrocephaly).
• Matsalolin barci, wahalar barci.
• Matsalolin numfashi, misali, toshewar kunne da/ko hanci, wahalar numfashi.
• Ciwon ciki mai tsanani da kuka (irin na ciwon ciki).
• Gudawa akai-akai.

Ba za ka iya lura da waɗannan alamun farko nan da nan ba. Yayin da yaronka ke girma, wasu alamomin da suka shafi cutar Sanfilippo za su fara bayyana. Waɗannan alamomin galibi suna bayyana tsakanin shekaru 1 zuwa 4 .

Halaye da suka shafi tsarin jijiyoyi da hali:

• Jinkiri a cikin iya magana da harshe (sau da yawa alama ce ta farko).
• Ci gaban yaro yana jinkirtawa ba tare da wani takamaiman dalili ba (jinkirin ci gaba ba tare da takamaiman dalili ba).
• Kwarewar hankali tana raguwa da lokaci.
• Halayya mai tsanani ko ɓarna .
• Yawan aiki.
• Halayyar rashin da'a, fushi kwatsam (fushi).
• Rashin jin tsoron abubuwa masu haɗari.
• Cizo akai-akai, tsagewa, tsotsa, ko haɗiyewa (yawan baki).
• Rashin natsuwa.
• Matsalolin barci - tsoron zuwa barci, parasomnias, da kuma apnea na barci.
• Canje-canje a tsarin tafiya, misali, tafiya ta ƙafafu .
• Tsantsar jiki, da kuma yawan jin zafi.
• Kamuwa.

Alamomin kunne, hanci, da makogwaro:

• Rashin ji.
• Yawan kamuwa da cututtukan kunne (otitis).
• Cikewar hanci mai ɗorewa.
• Ana buƙatar a cire adenoids da tonsils (adenotonsillectomy) kafin yara na yau da kullun.

Sauran alamu:

• Gudawa ko maƙarƙashiya mai tsawo.
• Maƙarƙashiya.
• Rashin jin daɗi a ciki.
• Matsalolin tsarin zuciya (arrhythmia).
• Ciwon tsoka na zuciya (cardiomyopathy).
• Taurin haɗin gwiwa.
• Ciwon scoliosis.

Me ke haifar da cutar Sanfilippo?

Kamar yadda muka ambata a baya, ciwon Sanfilippo cuta ce ta Lysosomal Storage Disease (LSD).Cutar kwayar halitta ce da ke cikin rukunin da ake kira. Mutanen da ke dauke da wannan cuta suna tara abubuwa masu guba a cikin ƙwayoyin jikinsu. Dalilin haka shi ne wasu enzymes a jikinsu ba sa aiki yadda ya kamata ko kuma ba sa aiki yadda ya kamata . Idan waɗannan enzymes suka ɓace, jikinmu ba zai iya karyewa ya cire wasu abubuwa ba. Lokacin da suka taru a jiki ne suke zama masu cutarwa.

A cikin ciwon Sanfilippo, ɗaya daga cikin enzymes guda huɗu da ke taimakawa wajen wargaza wani abu da ake kira heparan sulfate ya ɓace. Daga nan sai Heparan sulfate ya taru a cikin ƙwayoyin halitta ya lalata su. Wannan tarin ya fi shafar ƙwayoyin kwakwalwar yaron .

Waɗannan ƙarancin enzymes suna faruwa ne sakamakon maye gurbi na kwayoyin halitta , musamman maye gurbi a cikin kwayoyin halitta kamar kwayar halittar SGSH .

Waɗannan canje-canjen kwayoyin halitta suna gadar da yaron daga iyaye biyu. Wannan ana kiransa da tsarin gado na autosomal recessive . Wannan yana nufin cewa dole ne iyaye biyu su kasance masu ɗauke da kwayar halittar da aka canza. Duk da haka, mai ɗauke da wannan kwayar halittar yawanci ba ya nuna alamun cutar.

Ta yaya ake gane wannan cuta daidai?

Saboda ciwon Sanfilippo ba kasafai yake faruwa ba kuma alamominsa sun yi kama da na wasu cututtuka da aka saba gani , sau da yawa ana iya jinkirta ganewar asali. Likitoci na iya yin kuskuren gano cutar a matsayin jinkirin ci gaba, Rashin Hankali/Rashin Yawan Aiki (ADHD) , ko Autism .

Likitan yaronka zai yi gwajin jiki da kuma gwajin jijiyoyi. Za su kuma yi tambaya game da alamun yaronka da tarihin lafiyarsa. Haka kuma za su iya yin odar gwaje-gwaje don kawar da wasu cututtuka.

Gwaje-gwajen da ke taimakawa wajen tabbatar da ganewar cutar Sanfilippo sune:

• Gwajin fitsarin GAG: Ana duba samfurin fitsari daga yaron don ganin akwai wani abu da ake kira glycosaminoglycans (GAG) .
• Binciken Enzyme: Ana auna ayyukan enzymes masu dacewa a cikin samfurin jini.
• Gwajin kwayoyin halitta: Wannan gwajin zai iya duba canje-canjen kwayoyin halitta (maye gurbi) da aka sani suna da alaƙa da cutar Sanfilippo.

Bugu da ƙari, likita zai iya ba da shawarar wasu gwaje-gwaje don ganin ko akwai wata illa ga gabobin yaron ko kyallen jikinsa. Misali:

• Duban MRI na kwakwalwa.
• Jarrabawar ido.
• Gwajin ji.
• Gwaje-gwajen zuciya - kamar echocardiogram da electrocardiogram (EKG) .
• Nazarin barci.
• Gwaje-gwajen X-ray.

Ganewar Kafin Haihuwa

Idan wani a cikin iyalinka ya taɓa samun ciwon Sanfilippo, likitanka zai iya ba da shawarar a gwada jaririn da ke cikin ciki don sanin yanayin da ke tattare da shi yayin daukar ciki. Ana iya yin hakan ta hanyar gwaje-gwaje kamar amniocentesis ko chorionic villus sampling .

Menene maganin cutar Sanfilippo?

Abin takaici, a halin yanzu babu maganin warkarwa ko maganin rage cututtuka ga cutar Sanfilippo . Maganin ya fi mayar da hankali ne kan kula da alamun cutar da kuma kula da rage radadi . Saboda wannan yanayin yana shafar fannoni da dama na lafiyar yaro, ana buƙatar ƙungiyar likitoci masu fannoni daban-daban don kula da yaron. Wannan ƙungiyar na iya haɗawa da:

• Likitocin yara.
• Likitocin jijiyoyi na yara.
• Masu ilimin motsa jiki.
• Masu ilimin sana'a.
• Masana ilimin harshe da harshe.
• Likitocin kunne, hanci, da makogwaro (likitan kunne, hanci, da makogwaro).
• Masana ilimin halayyar yara.
• Ma'aikatan zamantakewa.
• Malamai na musamman.

Waɗannan ƙwararru suna ba da shawarar magunguna, hanyoyin magani, da na'urorin taimako waɗanda aka tsara don biyan buƙatun yaron. Manyan manufofin magani sune kiyaye motsa jiki na yaron, haɓaka iyawarsa, da kuma kiyaye mafi kyawun ingancin rayuwa.

Yaronka kuma yana iya samun damar shiga gwajin asibiti . Tambayi ƙungiyar likitocin yaronka game da wannan. Masu bincike a halin yanzu suna nazarin takamaiman magunguna don cutar Sanfilippo. Misali:

• Maganin maye gurbin enzyme.
• Dashen ƙwayoyin halitta.
• Maganin kwayoyin halitta.

A matakai na ƙarshe na cutar, fifikon magani shine kiyaye ingancin rayuwa da kuma hana rikitarwa.

Me zan yi tsammani idan ɗana yana da cutar Sanfilippo?

Idan yaronka yana da ciwon Sanfilippo, wataƙila za ka yi alƙawarin likita da gwaje-gwaje akai-akai. Zai iya zama da wahala a fahimci wannan yanayin mai rikitarwa a lokaci guda. Amma ka tuna, ƙungiyar likitocin yaronka tana tare da kai a kowane mataki. Saboda ciwon Sanfilippo yana shafar kowane yaro ta hanyoyi daban-daban, ƙungiyar likitocin yaronka za ta iya ba ka shawara mafi kyau game da abin da makomar ɗanka da iyalinka za ta kasance.

A cikin matakai na ƙarshe na cutar Sanfilippo, yaronka na iya fuskantar waɗannan abubuwa:

• Rage alaƙa da muhallinsu.
• Hauka .
• Rashin ayyukan motsa jiki kamar tafiya, magana, da cin abinci.

Waɗannan matsalolin lafiya suna ƙara ta'azzara akan lokaci kuma daga ƙarshe suna iya haifar da mutuwa. Cututtukan hanyoyin numfashi, musamman ciwon huhu , sune suka fi yawan haifar da mutuwa.

Yaya tsawon rayuwar wanda ke fama da cutar Sanfilippo?

A cikin wani bincike da aka yi kan marasa lafiya 113 da ke fama da cutar Sanfilippo, matsakaicin tsawon rai shine:

• Nau'in A: Tsakanin shekaru 11 zuwa 19.
• Nau'in B: Tsakanin shekaru 12 zuwa 16.
• Nau'in C: Tsakanin shekaru 14 zuwa 32.

Nau'in D ba kasafai ake samunsa ba, don haka babu isasshen bayani game da shi.

Amma, mafi mahimmanci, kowane yaro da ke fama da cutar Sanfilippo ya bambanta . Ƙungiyar likitocin yaronka za ta zama mafi kyawun mutum don ba ka kyakkyawar fahimta game da yadda cutar za ta shafi lafiyar ɗanka.

Za a iya hana cutar Sanfilippo?

Domin kuwa cutar Sanfilippo cuta ce ta kwayoyin halitta, babu abin da za ka iya yi don hana ta .

Kafin haihuwar ɗa, idan kuna damuwa game da haɗarin yada cutar Sanfilippo ko wasu cututtukan kwayoyin halitta ga ɗanku, yana da kyau ku yi magana da likita ku nemi shawarar kwayoyin halitta .

Idan ɗana yana da cutar Sanfilippo, ta yaya zan kula da shi?

Idan yaronka yana da cutar Sanfilippo, yana da matuƙar muhimmanci ka tabbatar ya sami mafi kyawun kulawar lafiya . Ta hanyar ba da shawara ga yaronka, za ka iya taimakawa wajen tabbatar da cewa yana da ingantacciyar rayuwa.

Kai da iyalinka kuma za ku iya shiga ƙungiyar tallafi inda za ku iya haɗuwa da waɗanda suka taɓa fuskantar irin wannan ƙalubalen. Wannan zai iya zama babban tushen ƙarfi.

Cututtukan da ke raunana tsarin jijiyoyi a hankali, kamar ciwon Sanfilippo, na iya yin mummunan tasiri ga lafiyar kwakwalwa da ingancin rayuwa ta ku da ta iyalanku. Iyaye da masu kula da yara masu fama da ciwon Sanfilippo suna cikin haɗarin kamuwa da cututtuka kamar Ciwon Damuwa Bayan Rauni (PTSD) . Saboda haka, ya kamata ku kula da lafiyar kwakwalwarku. Idan kuna fuskantar baƙin ciki, damuwa, ko damuwa mai tsawo, ku tabbata kun ga likitan tabin hankali ko mai ba da shawara.

Yaushe ya kamata ɗana ya ga likita?

Ya kamata ku sa ƙungiyar likitocin yaronku su riƙa duba shi akai-akai duk bayan watanni 6 zuwa 12 (ko kuma fiye da haka) don gano canje-canje a cikin ƙwarewarsa ta hankali, ƙwarewar motsa jiki, da halayensa. Idan kun lura da wasu sabbin alamu, ko kuma idan alamunku suka yi muni, ku yi magana da ƙungiyar likitocin yaronku nan da nan.

A ƙarshe, abubuwan da za a tuna

Abu ne na al'ada a ji kamar an yi maka rashin lafiya da kuma firgita idan ka ji an gano kana da cutar Sanfilippo. Amma ka tuna, ƙungiyar likitocin yaronka za ta samar da cikakken tsarin gudanarwa wanda ya dace da ɗanka. Yana da mahimmanci ka tabbatar da cewa kai, ɗanka, da iyalinka sun sami tallafin da suke buƙata, kuma ka kasance cikin shiri game da lafiyar ɗanka. Ƙungiyar likitocin yaronka a shirye take ta tallafa maka a kowane mataki. Kada ka firgita, ka fuskanci wannan ƙalubalen da ƙarfin hali. Kada ka yi jinkirin koyon bayanan da kake buƙata, ka yi tambayoyi, kuma ka sami taimakon da kake buƙata.

Ciwon Sanfilippo, cututtukan kwayoyin halitta, cututtukan yara, tsarin juyayi, enzymes, mucopolysaccharidosis