Neuronal ceroid lipofuscinoses (NCL)

Neuronal ceroid lipofuscinoses (NCL) e bua ka sehlopha sa mathata a sa tloaelehang a lisele tsa methapo. NCL e fetisoa ka malapa (a futsitsoeng).

Tsena ke mefuta e meraro ea mantlha ea NCL:

• Batho ba baholo (Kufs kapa Parry disease)
• Bacha (Boloetse ba Batten)
• Boloetse ba morao-rao (lefu la Jansky-Bielschowsky)

NCL e kenyelletsa pokello ea thepa e sa tloaelehang e bitsoang lipofuscin bokong. Ho nahanoa hore NCL e bakoa ke mathata a nang le bokhoni ba boko ba ho tlosa le ho etsa liprotheine hape.

Lipofuscinoses li futsitsoe joalo ka litšobotsi tse fetelletseng tsa autosomal. Sena se bolela hore motsoali e mong le e mong o fetisetsa kopi e sa sebetseng ea lefutso bakeng sa ngoana ho holisa boemo boo.

Ke karolo e le 'ngoe feela ea motho e moholo ea NCL e futsitsoeng e le tšobotsi e ka sehloohong ea li-autosomal.

Matšoao a NCL a kenyelletsa:

• Ho eketsa molumo o sa tloaelehang oa mesifa kapa spasm
• Mathata a bofofu kapa a pono
• Dementia ea kelello
• Ho hloka tšebelisano ea mesifa
• Bokooa ba kelello
• Bothata ba motsamao
• Ho lahleheloa ke puo
  
• Ho oa
• Ho tsamaea ho sa tsitsang

Boloetse bona bo ka bonoa ha motho a hlaha, empa hangata bo fumanoa hamorao bongoaneng.

Liteko li kenyelletsa:

• Autofluorescence (mokhoa o bobebe)
• EEG (e lekanya tšebetso ea motlakase bokong)
• Electron microscopy ea biopsy ea letlalo
• Electroretinogram (tlhahlobo ea mahlo)
• Ho etsa liteko tsa lefutso
• Lisebelisoa tsa MRI kapa CT tsa boko
• Biopsy ea lisele

Ha ho na pheko bakeng sa mathata a NCL. Kalafo e ipapisitse le mofuta oa NCL le boholo ba matšoao. Mofani oa hao oa tlhokomelo ea bophelo a ka 'na a fana ka phomolo ea mesifa ho laola ho teneha le ho sithabela ha boroko. Meriana le eona e ka laeloa ho laola ho oa le ho tšoenyeha. Motho ea nang le NCL a ka hloka thuso le tlhokomelo ea bophelo bohle.

Lisebelisoa tse latelang li ka fana ka tlhaiso-leseling e batsi ka NCL:

• Setsi sa Boitsebiso ba Mafu le a Rare - rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis
• Mokhatlo oa Tšehetso le Patlisiso ea Mafu a Batten - bdsra.org

Motho e monyane lilemong ke ha lefu lena le hlaha, monyetla o moholo oa ho holofala le lefu la pele. Ba hlaolelang lefu lena kapele ba ka ba le mathata a pono a fetohang bofofu le mathata a ts'ebetso ea kelello a mpefalang. Haeba lefu lena le qala selemong sa pele sa bophelo, ho ka etsahala hore motho a shoe a le lilemo li 10.

Haeba lefu lena le hlaha ha motho a le moholo, matšoao a tla ba bobebe, a se na tahlehelo ea pono le nako e tloaelehileng ea bophelo.

Mathata ana a ka hlaha:

• Bofokoli ba pono kapa bofofu (ka mefuta ea lefu lena e qalang)
• Ho holofala kelellong, ho tloha ho tieho e kholo ea kholo ea tsoalo ho isa ho 'dementia' hamorao bophelong
• Matšoao a thata (ka lebaka la mathata a matla le methapo e laolang molumo oa mesifa)

Motho a ka its'etleha ka ho felletseng ho ba bang bakeng sa thuso ea mesebetsi ea letsatsi le letsatsi.

Bitsa mofani oa hau haeba ngoana oa hau a bontša matšoao a bofofu kapa bokooa ba kelello.

Keletso ea lefutso ea khothaletsoa haeba lelapa la hau le na le nalane e tsebahalang ea NCL. Liteko tsa bakhachane, kapa tlhahlobo e bitsoang preimplantation gene diagnostic (PGD), li ka fumaneha, ho latela mofuta o itseng oa lefu. Ho PGD, lesea le sa tsoa emoloa le hlahlojoa hore na le na le lintho tse sa tloaelehang pele le kenella ka popelong ea mosali.

Lipofuscinoses; Boloetse ba batten; Jansky-Bielschowsky; Lefu la Kufs; Spielmeyer-Vogt; Lefu la Haltia-Santavuori; Lefu la Hagberg-Santavuori

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Tsela ea Glykys J, Sims KB. Mathata a neuronal ceroid lipofuscinosis. Ka: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Melao-motheo le Tloaelo. La 6th. Elsevier; 2017: khaolo ea 48.

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