Matenda a Gaucher

Matenda a Gaucher ndimatenda achilendo omwe munthu amasowa enzyme yotchedwa glucocerebrosidase (GBA).

Matenda a Gaucher ndi osowa mwa anthu wamba. Anthu aku Eastern and Central Europe (Ashkenazi) cholowa chachiyuda nthawi zambiri amakhala ndi matendawa.

Ndi matenda opatsirana pogonana. Izi zikutanthauza kuti mayi ndi bambo ayenera kupatsira mwana wawo mtundu umodzi wamtunduwu wa matendawa kuti mwana adziwe matendawa. Kholo lomwe limanyamula mtundu wabwinobwino wa jini koma lilibe matenda amatchedwa wonyamula chete.

Kuperewera kwa GBA kumayambitsa zinthu zovulaza m'chiwindi, ndulu, mafupa, ndi mafupa. Zinthu izi zimalepheretsa maselo ndi ziwalo kugwira ntchito moyenera.

Pali mitundu itatu yayikulu ya matenda a Gaucher:

• Mtundu 1 ndi wofala kwambiri. Zimakhudza matenda amfupa, kuchepa magazi m'thupi, nthenda yotakasa komanso ma platelet otsika (thrombocytopenia). Mtundu woyamba umakhudza ana ndi akulu omwe. Ndizofala kwambiri pakati pa Ayuda achi Ashkenazi.
• Mtundu wachiwiri nthawi zambiri umayambira ali wakhanda ndikumakhudzidwa kwambiri ndi ma neurologic. Fomuyi imatha kubweretsa kufa mwachangu, msanga.
• Mtundu wachitatu ungayambitse vuto la chiwindi, ndulu, ndi ubongo. Anthu omwe ali ndi mtundu uwu amatha kukhala achikulire.

Kutuluka magazi chifukwa cha kuchuluka kwa ma platelet ndi chizindikiritso chofala kwambiri cha matenda a Gaucher. Zizindikiro zina zitha kuphatikiza:

• Kupweteka kwa mafupa ndi mafupa
• Kuwonongeka kwamalingaliro (kuchepa kwamaganizidwe)
• Kuvulaza kosavuta
• Kukula kwa nthata
• Kukulitsa chiwindi
• Kutopa
• Mavuto a valavu yamtima
• Matenda am'mimba (osowa)
• Kugwidwa
• Kutupa kwakukulu pakubadwa
• Khungu limasintha

Wothandizira zaumoyo adzayesa thupi ndikufunsa za zizindikiro.

Mayesero otsatirawa akhoza kuchitika:

• Kuyezetsa magazi kuti mufufuze michere
• Kukhumba kwamfupa
• Chiwopsezo cha ndulu
• MRI
• CT
• X-ray ya mafupa
• Kuyesedwa kwachibadwa

Matenda a Gaucher sangachiritsidwe. Koma mankhwala amatha kuthandizira kuwongolera komanso amatha kusintha zizindikilo.

Mankhwala atha kuperekedwa kwa:

• Sinthanitsani GBA yomwe ikusowa (enzyme replacement therapy) yothandizira kuchepetsa kukula kwa ndulu, kupweteka kwa mafupa, ndikuwongolera thrombocytopenia.
• Chepetsani kupanga kwamafuta omwe amadzikweza mthupi.

Mankhwala ena ndi awa:

• Mankhwala opweteka
• Kuchita maopaleshoni a mafupa ndi olumikizana, kapena kuchotsa ndulu
• Kuikidwa magazi

Maguluwa atha kupereka chidziwitso chambiri pa matenda a Gaucher:

• National Gaucher Foundation - www.gaucherdisease.org
• National Library of Medicine, Buku Lofotokozera za Genetics - ghr.nlm.nih.gov/condition/gaucher-disease
• National Organisation for Rare Diseases - rarediseases.org/rare-diseases/gaucher-disease

Momwe munthu amachitira bwino zimadalira mtundu wake wamatendawo. Matenda a Gaucher (mtundu wachiwiri) angayambitse kufa msanga. Ana ambiri okhudzidwa amamwalira asanakwanitse zaka 5.

Akuluakulu omwe ali ndi mtundu woyamba wa matenda a Gaucher amatha kuyembekezera kukhala ndi moyo wathanzi ndi mankhwala a enzyme.

Zovuta za matenda a Gaucher atha kukhala:

• Kugwidwa
• Kuchepa kwa magazi m'thupi
• Thrombocytopenia
• Mavuto amfupa

Upangiri wa chibadwa umalimbikitsidwa kwa oyembekezera kukhala makolo omwe ali ndi mbiri yabanja yamatenda a Gaucher. Kuyesedwa kumatha kudziwa ngati makolo ali ndi jini yomwe ingadutse matenda a Gaucher. Kuyezetsa magazi asanabadwe kumadziwitsanso ngati mwana m'mimba ali ndi matenda a Gaucher.

Kulephera kwa Glucocerebrosidase; Kulephera kwa Glucosylceramidase; Matenda osungira Lysosomal - Gaucher

• Kukhumba kwamfupa
• Selo la Gaucher - photomicrograph
• Selo la Gaucher - photomicrograph # 2
• Matenda a hepatosplenomegaly

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Zofooka za kagayidwe ka lipids. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 104.

Krasnewich DM, Sidransky E. Lysosomal matenda osungira. Mu: Goldman L, Schafer AI, olemba. Mankhwala a Goldman-Cecil. 26 wa. Philadelphia, PA: Elsevier; 2020: chap 197.

Turnpenny PD, Ellard S, Cleaver R. Zolakwa zakubadwa zama metabolism. Mu: Turnpenny PD, Ellard S, Cleaver R, olemba. Zinthu za Emery za Medical Genetics ndi Genomics. Wolemba 16. Philadelphia, PA: Elsevier; 2022: mutu 18.